FM OCTOBER 2018 ISSUE - digital edition

₹ 250.00 

VOL 5 | ISSUE 6 

PAGES 100 

OCTOBER 2018 

FUTUREMEDICINEINDIA.COM 

COMBO-DRUGS 

ON THEIR 

WAY OUT? 

MICRODELETION: 

LOST IN 

TRANSLATION 

NON-INVASIVE PRENATAL 

SCREENING ENTERS 

EXCITING FRONTIERS 

KNOWING 

THE UNBORN 

REGULATORY DIAGNOSTICS HEAD & NECK CANCER CASE REPORT 

ORAL CANCER 

STAGING BY 

DEPTH OF INVASION 

HOW SHE 

REGAINED 

HER LOST TASTE

editor’s note 

OCTOBER AUGUST 2018 / / Vol: Vol. 5 // Issue: 46 

Founder & & Editor Editor 

CH Unnikrishnan 

Executive Editor Editor 

S Harachand 

Harachand 

Science Editor 

Science Editor 

Dr Rajanikant Vangala 

Dr Rajanikant Vangala 

Consulting Editors 

Dr Copy Shivanee Editor Shah 

Jeetha Sreejiraj D’Silva Eluvangal 

Dr Consulting Sumit Ghoshal Editors 

Copy Dr Shivanee Editor Shah 

Sreejiraj Dr Sumit Ghoshal Eluvangal 

Correspondent 

Photo Editor 

Divya 

Umesh 

Choyikutty 

Goswami 

Photo Editor 

Illustrator 

Umesh Goswami 

Mathewkutty J Mattam 

Design Editor 

Gopakumar Advisory BoardK 

Dr Devi Shetty 

Illustrator 

Mathewkutty 

Dr B S Ajaikumar 

J Mattam 

Dr Shashank Joshi 

Advisory 

Dr Prof. Arumugam 

Board 

S 

Dr Devi Shetty 

Dr I C Varma 

Dr B S Ajaikumar 

Dr Dr N Shashank K Warrier Joshi 

Dr Sekar Prof. Seshagiri Arumugam S 

Dr Knowledge I C Verma Partner 

Dr SGRF N K Warrier 

Dr Sekar Seshagiri 

Mr Business Rajesh Head R Nair 

Knowledge 

Tushar Kanchan 

Partner 

SGRF Circulation & Subscription Manager 

Business S Sanjeev Nair Head 

Tushar Design & Kanchan Graphics 

Circulation Blackboard Kochi & Subscription Manager 

S Sanjeev Nair 

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Printed and Published by Ravi Dee Cee, DC Books, Kizhakkemuri Edam, Good 

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© 2018 NextGen Science Media Pvt. Ltd, RNI Number KERENG/2012/44529 

Dear Doctor, 

Dear Doctor 

Needless to say, you, and every other honest healthcare provider truly 

hold 

We know 

a respectable 

you are busy. 

position 

It is 

in 

always 

the society. 

reassuring 

This respect 

that the 

is 

trust 

nothing 

and 

but 

faith 

the 

of 

reflection of the trust that men and women in the society have in you as 

hundreds of patients in your healing touch keeps you busy in this noble 

the custodian of their health. So, naturally, it comes to you with its own 

profession. In the hectic practice, it’s quite natural that you might miss 

share of responsibilities. In this era of transformative science and research, 

out on some of the latest developments in emerging medicine. In this era 

the responsibility has a much larger context that goes beyond mere sickcare. 

It also includes the care of the health of the society, which will in turn 

of innovation, medical science is getting redefined almost by the day. Old 

technologies are being replaced by the new in the blink of an eye. Robots 

determine the future progress of humanity. 

and artificial intelligence are taking over a good part of the procedures, 

As Future Medicine always stressed in its mission, we want to seamlessly 

while genomics and molecular science unveil the mysteries of life further. 

connect the researcher with the doctor, bridging the gap between them. It 

We are fortunate to have such breakthroughs as they help specialists like 

is the time to translate the benefits of that knowledge to the society at large 

in 

you 

the 

rise 

form 

above 

of a 

the 

real 

expectations 

transformation. 

of today’s 

And that 

informed 

is the real 

patient. 

responsibility which 

you, as a new age clinician, share. 

Similarly, 

As we all 

it is 

know, 

also a 

India’s 

time 

burden 

when India 

of non-communicable 

is witnessing revolutionary 

diseases 

growth 

is rising 

in 

rapidly. 

healthcare 

The 

industry, 

country’s 

especially 

peculiar and 

in the 

complex 

private 

population 

sector, wherein 

groups 

an 

and 

increasing 

their 

genetics number of add doctors the are load taking of inherited up multiple ailments. roles Recent of clinician, advancements researcher in and 

human entrepreneur. genomics This have requires proven expansion to be capable of your of focus tracing to a the wider genesis canvas. of many In 

of this these context, diseases it becomes accurately, important and to how control a busy them professional to a great extent. like you But can 

unfortunately, keep pace with the these awareness latest developments about such advanced in a quick technologies, and easy way. including 

parental and prenatal screening and testing that can help take informed 

decisions At Future before Medicine, birth, which is still is conceived very poor in and India. crafted by a team of senior 

journalists, We, in this scientists issue, are and taking doctors, a closer our look aim is at to the help country’s you do crucial just that. burden We of 

genetic are equipped disorders to bring and the you myths the latest and from realities the about science the of latest care technologies 

from across 

that the world the country in an interesting can take advantage and convenient of in this way, regard, supplemented along with by many the best other 

breakthroughs of views and analyses and developments from the masters in the in field each of medicine field. We and present practice. you this 

specialised Happy reading, knowledge vehicle that plugs you into the emerging world of 

care seamlessly. Come, let’s join hands in this information journey. 

CH Unnikrishnan 

editor@futuremedicineindia.com 

C H Unnikrishnan 


www.futuremedicineindia.com futuremedicineindia FutureMedIndia 

AUGUST 2018/ FUTURE MEDICINE / 3

REGULATORY DIAGNOSTICS HEAD & NECK CANCER CASE REPORT 

Vol 5 Issue 6 

October 2018 

₹ 250.00 


PAGES 100 

OCTOBER 2018 


COMBO-DRUGS 

ON THEIR 

WAY OUT? 

MICRODELETION: 

LOST IN 

TRANSLATION 

EXCITING FRONTIERS 

KNOWING 

ORAL CANCER 

STAGING BY 


NON-INVASIVE PRENATAL 

SCREENING ENTERS 

THE UNBORN 

HOW SHE 

REGAINED 

HER LOST TASTE 

28 

DIAGNOSITCS 

LOST IN 

TRANSLATION 

Microdeletion syndrome is one 

of a frequently unsuspected 

group of disorders in prenatal 

evaluation 

REGULAR FEATURES 

06 Letters 

08 News updates 

12 Research 

32 Drug approvals 

48 Education 

60 Research snippets 

62 Pharma 

64 Hospital news 

66 Head & neck cancer 

68 Insurance 

70 Health care 

72 Public health 

74 Medico legal 

80 Devices 

86 Products 

90 Events 

96 Calendar 

97 Book review 

98 Holy grail 

54 14 

CASE REPORTS 

SLEEP-ONSET 

SEIZURE 

Here is a case of long QT 

syndrome which manifested 

as a seizure-like activity while 

falling asleep 

RESEARCH 

PRETERM RISK 

HIGHER WITH 

ART: STUDY 

Lack of surveillance and 

the absence of procedural 

guidelines are leading 

to an alarming rise in ART-linked 

preterm births 

38 

REGULATORY 

FDCS ON THEIR 

WAY OUT? 

India slaps ban on 328 drug 

combos finding no therapeutic 

justification for the ingredients 

contained

76 

ETHICS 

DOCTORS OWE A 

CONSTITUTIONAL DUTY TO 

TREAT THE HAVE-NOTS: SC 

Test results 

must aid clinical 

decision-making 

and should be 

beneficial to 

patients. 

44 

STRAIGHT TALK 

“INDIA WILL SOON 

MAKE THAT BIG 

REVOLUTION OF 

CHEAPER 

ROBOTIC SURGERY” 

Maximilian 

Schmid M.D. 

Head of Medical 

Affairs, Roche 

Sequencing Solutions, 

California 

16 

COVER STORY 

KNOWING 

THE UNBORN 

Non-invasive, cfDNA-based 

approach opens exciting 

frontiers in prenatal genetic probe

CARDIOGENETICS CASE REPORT EDUCATION ONCOLOGY 

letters to the editor 

CUTTING-EDGE ADVANCES IN 

INTERVENTIONAL TECHNOLOGY 

ARE TAKING CARDIOVASCULAR 

MEDICINE BY STORM 

TRANSCATHETER 

TRANSFORMATION 

INHERITED CVD: 

BIGGEST KILLER 

GETS OFF SCOT-FREE 

HEART RHYTHM 

DISORDERS 

MIMIC EPILEPSY 

Nicely done 

DNBs SEEK 

EQUIVALENCE 

WITH MD 

Hi, 

Received the September 

edition. Useful contents and 

nicely done. Congrats. 

Dr Hisham Ahmed 

Consultant cardiologist 

Armrita Institute of Medical 

Science, Kochi. 

Excellent Concept 

₹ 250.00 


PAGES 100 

SEPTEMBER 2018 


GINGIVO-BUCCAL 

CANCERS ARE 

DIFFERENT 

Hello, 

It is a great attempt to create 

a fusion of pure science 

and clinical practice, which 

is also presented in an 

interesting way. Doctors will 

enjoy reading this. Excellent 

concept. 

Prof. Bhaskar D Goolab 

Dept. of Obstretics 

&Gynaecology 

University of Witwatersrand, 

Johannesburg, SA. 

Business insights 

Dr Moopen’s views on 

hospital entrepreneurship 

was really insightful. 

Dr Raju Patil 

Vasai Polyclinic, Maharshtra 

Insightful 

Dear Sir, 

Read your September 

edition. The interview with Dr 

Moopen was really insightful 

as far as preparation 

for healthcare startup is 

concerned. His concerns 

about unupdated medical 

curriculum in India is true 

and hope the MCI and other 

authorities listens to it. 

Dr Jayathilakan 

Anna Salai, Chennai-02 

Really good 

Hello, 

I think I must comment 

on the cover story of the 

September edition of FM.It 

is really good. Very topical. 

I appreciate the way you 

choose the topics. Ovearll, 

the layout of the magazine 

looks excellent!. Keep it up. 

Cheers, 

Dr Manish Kakodkar, 

Worli Seaface, Mumbai 

Serious crisis 

Dear Editor, 

The September edition was 

a good package on the 

heart diseases and modern 

procedures. As a practicing 

cardiologist, enjoyed reading 

the same. As reported, the 

inherited heart diseases is 

still a serious crisis in India, 

which is yet to get adequately 

addressed. 

Dr Vasudev Shirodkar 

Shirodkar Clinic, Mumbai 

Fresh look 

Hi Sir, 

Cover story on less-invasive 

technologies was interesting. 

Looking forward to more such 

tech-based articles. Also, the 

magazine has got a fresh look 

with excellent cover theme 

and design. 

Dr. Jhanvi Shankar Nagesh 

Bangalore 

CLARIFICATION 

Dr Kirti Chaddha, who shared her 

views on TAILORx study findings 

in the September issue (Page No. 

48) is vice president, Oncomet, 

Metropolis Healthcare Ltd. 

Please e-mail us your feedback on 


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news updates 

India brings HIV/AIDS Act 

into force 

India's health ministry has enforced 

the Human Immunodeficiency Virus 

and Acquired Immune Deficiency 

Syndrome (Prevention and 

Control) Act, 2017 with effect from 

September 10, 2018. 

The Act, which aims to 

safeguard the rights of people 

living with HIV and affected by HIV, 

has provisions to address HIVrelated 

discrimination, strengthen 

the existing anti-discrimination 

programme by bringing in legal 

accountability and establish 

formal mechanisms for inquiring 

into complaints and redressing 

grievances. 

Seeking to prevent and control 

the spread of HIV and AIDS, the 

Act lists various grounds on which 

discrimination against HIV positive 

persons and those living with them 

is prohibited. These include the 

denial, termination, discontinuation 

or unfair treatment with regard to: 

(i) employment, (ii) educational 

establishments, (iii) health care 

services, (iv) residing or renting 

property, (v) standing for public or 

private office, and (vi) provision of 

insurance. 

The requirement for HIV testing 

as a prerequisite for obtaining 

employment or accessing health care 

or education is also prohibited. 

Every HIV infected or affected 

person below the age of 18 years 

has the right to reside in a shared 

household and enjoy the facilities of 

the household. The Act also prohibits 

any individual from publishing 

information or advocating feelings of 

hatred against HIV positive persons 

and those living with them. 

Online pharmacy 

Netmeds raises 

Rs 247 cr 

OOnline pharmacy 

Netmeds has raised $35 

million (Rs 247 crore) from 

Southeast Asian business 

group Daun Penh Cambodia 

Group based in Singapore, a 

company statement said. 

Existing investors Sistema 

Asia Fund, the venture capital 

fund of Russian conglomerate 

Sistema JSFC, and Tanncam 

Investment, a Cambodian 

investment holding company, 

also put in money 

in 

this round, the statement 

added. 

Netmeds is planning to 

use the new funds to increase 

awareness through marketing 

efforts as well as to enhance 

customer experience, reports 

said, quoting company 

sources. 

The company had, in 

October last year, raised $14 

million from Tanncam and 

Sistema Asia Fund. 

Promoted by Dadha 

& Company, Netmeds 

provides a wide range of 

medicines listed under 

various categories, along 

with OTC products including 

wellness products, vitamins, 

diet/fitness supplements, 

herbal products, pain 

relievers, diabetic care kits, 

baby/mother care products, 

beauty care products and 

surgical supplies. 

Dr Poonam 

Khetrapal gets 

2nd term at WHO 

Dr Poonam Khetrapal Singh 

has been nominated as 

regional director of WHO 

South-East Asia for a second 

five-year term. 

The 11 member countries 

of WHO South-East Asia 

Region, which met at the 

regional committee session 

to elect the next regional 

director, selected Dr Khetrapal 

Singh unanimously, reports 

said. 

Dr Khetrapal Singh’s 

current term started on 1 

February 2014. During the 

period, she identified seven 

flagship priorities -– achieving 

universal health coverage; 

strengthening emergency 

response capacity; reversing 

non-communicable disease 

epidemics; finishing off 

neglected tropical diseases; 

combating antimicrobial 

resistance; preventing 

maternal, under-five and 

neonatal deaths, eliminating 

measles and controlling 

rubella. She further added 

eliminating tuberculosis as her 

eighth flagship in 2017. 

The region, which was 

certified polio-free in 2014, 

continues to maintain this 

status. It also succeeded 

in eliminating maternal 

and neonatal tetanus, 

8 / FUTURE MEDICINE / OCTOBER 2018

ecoming only the second 

WHO region to do so. The 

region could also bring down 

the maternal mortality rates 

by 69 per cent. 

Dr Khetrapal's next fiveyear 

term will begin on 1 

February 2019. 

EU partners with 

India to develop 

flu vaccine 

The European Union (EU) 

joined hands with India 

on research and innovation 

to develop a next-generation 

influenza vaccine. 

EUR 30 million has been 

earmarked for the research 

and development activity with 

the objective of advancing 

the efficacy, safety, duration 

of immunity and reactivity 

against a large number of 

influenza strains. 

Both the EU and the 

Department of Biotechnology 

(DBT), Government of India, 

have committed EUR 15 

million each to fund the 

joint project. The EU fund 

for this programme comes 

from its research and 

innovation 'Horizon 2020' 

programme. 

These joint efforts also aim 

to develop cost-effective and 

affordable influenza vaccine 

rapidly without compromising 

quality. Keeping this in mind, 

the participating consortia 

need to bring together 

multidisciplinary stakeholders 

who can represent any part of 

the chain from the lab to the 

market. 

Health ministry asks states 

to ban e-cigarettes 

India's health ministry 

has asked states to 

ban Electronic Nicotine 

Delivery Systems (ENDS), 

including e-cigarettes, 

vape, e-sheesha, 

e-hookah etc.. 

“As such, the states/ 

Union Territories are 

advised, in larger public 

health interest and in 

order to prevent the 

initiation of ENDS by 

non-smokers and youth 

with special attention 

to vulnerable groups, to 

ensure that any Electronic 

Nicotine Delivery Systems 

(ENDS) including 

e-cigarettes, heatnot-burn 

devices, vape, e-sheesha, 

e-nicotine flavoured 

hookah,” according to an 

advisory issued by the 

ministry. 

These devices 

enabled nicotine delivery 

“In engaging jointly on this 

topic, India and the EU are 

contributing to an important 

global public health challenge. 

Improved influenza vaccines 

would help the international 

and hence should not 

be sold either online or 

offline. The advisory 

also stated that 

these should not 

be manufactured, 

distributed, traded, 

imported and advertised 

in the state jurisdictions, 

except for the purpose 

and in the manner and 

to the extent as may 

be approved under the 

Drugs and Cosmetics Act, 

1940 and the rules made 

thereunder. 

The Indian states 

of Punjab, Karnataka, 

Kerala, Mizoram, Jammu 

and Kashmir, Uttar 

Pradesh and Bihar have 

already prohibited the 

use of e-cigarettes and 

have prohibited the 

manufacture, import, sale 

and distribution of ENDS, 

reports said. 

The Central Drugs Standard 

Control Organisation 

(CDSCO), India's top drug 

regulator, is planning to 

change the labelling norms 

for fluoroquinolone class of 

antibiotics. The intended 

change is to bolster the 

warnings about the risks of 

mental health side-effects 

and serious blood sugar 

fluctuations. 

The proposed regulation 

is close in line with a similar 

action taken by the US Food 

and Drug Administration.The 

US drug regulator announced 

safety labelling changes 

to make warnings more 

consistent across the labelling 

for all fluoroquinolones 

taken by mouth or given by 

injection. 

India's Minister of State 

for Health and Family Welfare, 

Anupriya Patel stated in 

Parliament that “in view of the 

action of US FDA on labelling 

changes of fluoroquinolones, 

the Drug Controller General of 

India is examining the issue 

in consultation with subject 

expert committee of CDSCO”. 

The list of 

fluoroquinolones approved by 

US FDA include levofloxacin, 

ciprofloxacin (Cipro), 

ciprofloxacin extendedcommunity 

to better prepare 

in the event of an influenza 

pandemic,” said Tomasz 

Kozlowski, Ambassador of the 

European Union, launching 

the programme. 

It is expected that the 

outcome of the projects 

will also contribute to the 

achievement of Sustainable 

Development Goal 3 to ensure 

health and well-being for all 

and boost the Indian National 

Health Mission. Addressing 

seasonal flu vaccination is 

also high on the EU health 

agenda with the European 

Commission urging EU 

member states to commit 

to vaccinating 75% of risk 

groups against seasonal flu 

each year. 

Govt may change 

labelling for 

fluoroquinolones 

OCTOBER 2018 / FUTURE MEDICINE / 9

BC Roy awards go to three doctors from Lucknow 

Three leading doctors from 

Lucknow were conferred 

with the country's prestigious 

BC Roy awards. 

SGPGI director Prof 

Rakesh Kapoor and KGMU 

Vice-Chancellor Prof MLB 

Bhatt have been awarded 

as ‘eminent medical 

teacher’. Dr Deepak Agarwal, 

gastroenterologist, has been 

awarded ‘to recognise the 

best talents in development of 

specialities in different 

branches in medicine’ 

for his contributions to 

gastroenterology, stated a 

press release from the Medical 

Council of India. 

Prof Bhatt, who was 

part of Operation Meghdoot 

launched by the Indian Army 

in 1984 to capture the Siachen 

Glacier, did his graduation 

from KGMU and joined the 

Indian Army’s medical corps 

under the Short Service 

Commission. 

He later did his masters 

in radiotherapy and started 

Prof Rakesh Kapoor Prof MLB Bhatt Dr Deepak Agarwal 

teaching. He served as KGMU 

medical superintendent in 

2006-07. He was appointed 

the Vice-Chancellor of KGMU 

in 2017. In the area of medical 

research, Prof Bhatt has been 

instrumental in developing 

original biomarkers for testing 

oral, breast, and urinary 

bladder cancers. 

Prof Rakesh Kapoor was 

the winner of the prestigious 

Hewett Medal in graduation. 

Also an alumnus of KGMU, 

Prof Kapoor joined SGPGI 

Chandigarh for superspeciality 

in urology. In 1988, he became 

a faculty at SGPGI Lucknow. 

A gold medallist in masters 

in general surgery, Prof Kapoor 

is credited with developing 

new vaginoplasty techniques 

wherein a vagina is created 

from a section of the small 

intestine to help women born 

without ovaries and vagina. 

Dr Deepak Agarwal is 

an expert in endoscopic 

ultrasound, laparoscopic 

surgery and gastric bypass 

surgery. 

The BC Roy Award, 

considered the highest 

medical honour in the country, 

is given in five categories. The 

award to eminent medical 

teachers includes Rs 15,000 

and a medal for each awardee. 

The selections are made 

by a managing committee 

appointed by the Medical 

Council of India. 

release tablets, moxifloxacin 

ofloxacin, gemifloxacin and 

delafloxacin. 

The US agency went on 

to insist labelling changes 

following a recent review 

that found instances of 

hypoglycemic coma where 

users of fluoroquinolones 

experienced hypoglycemia. 

The US FDA first 

added a Boxed Warning 

to fluoroquinolones in July 

2008 for the increased risk of 

tendinitis and tendon rupture. 

Dr K K Aggarwal 

is pres-elect 

of CMAAO 

Padma Shri Awardee Dr 

K K Aggarwal has been 

elected as the president-elect 

of Confederation of Medical 

Associations of Asia and 

Oceania (CMAAO). 

CMAAO represents 19 

member National Medical 

Associations (NMAs). 

Dr Aggarwal will take 

charge as the president of 

CMAAO on September 5, 2019 

at Goa. 

A leading cardiologist, 

Dr Aggarwal was the past 

national president of the 

Indian Medical Association 

(IMA) and the first vice 

president of CMAAO and 

an advisor to the ethics 

committee, World Medical 

Association. 

Dr Aggarwal, who is 

currently the president of 

Heart Care Foundation Of 

India (HCFI), was elected to 

CMAAO at the 2018 General 

Assembly held at Penang, 

Malaysia. 

docprime. com 

gets $50m 

internal fund 

docprime.com, an online 

medical services provider 

promoted by EtechAces 

Marketing and Consulting 

Private Limited (Policybazaar 

Group), has received initial 

internal infusion of US$ 

50 million from the parent 

company. 

Presently, docprime.com is 

associated with 14,000 doctors 

and 5,000 diagnostic labs. The 

online medical portal plans to 

expand its network to 1,50,000 

doctors and 20,000 labs across 

over 100 cities, according to 

the company. 

The online booking of 

appointments are currently 

restricted to doctors and labs 

located in Delhi-NCR, but the 

facility will be made available 

across all major cities including 

Mumbai, Bengaluru, Hyderabad 

& Chennai from next month 

onwards. 

docprime. com, a venture 

by the Policybazaar Group, 

connects patients with doctors 

in real time through stateof-the-art 

technology and a 

robust offline network. 


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esearch 

CANCER VAC TO COMBAT LYNCH 

Indian researchers discover that a personalised vaccine could well address a 

hereditary form of colorectal cancer 

A 

recent study by Bengaluru-based 

genetics research and diagnostics 

player MedGenome has found 

that a cancer vaccine would be the 

answer for personalized treatment for 

Lynch Syndrome (LS), a hereditary nonpolyposis 

colorectal cancer (HNPCC). 

Lynch Syndrome, one of the 

most common hereditary syndromes, 

increases the lifetime risk of developing 

cancers of other organs, such as colon, 

stomach, small intestines, liver, kidney, 

uterus, brain, pelvis and prostate. 

MedGenome, in collaboration with 

Kailash Cancer Hospital and Research 

Center (KCHRC), Goraj, examined the 

feasibility of treating Lynch Syndrome 

using a personalized cancer vaccine 

approach by identifying potential 

immunogenic tumour specific 

alterations. 

The company used its proprietary 

neoepitope prioritization pipeline 

- OncoPeptVAC - to select potential 

immunogenic peptides from wholeexome 

and RNA-seq data generated 

from patient tumour. From a list of 

over 50 predicted neoepitopes, three 

neoepitopes were tested in an ex vivo 

CD8+ T cell activation assay confirming 

their immunogenicity. 

Explaining the working of this 

potential vaccine treatment, Amit 

Chaudhuri, Vice-President, R&D 

at MedGenome, said since cancer 

mutations are recognized by the body’s 

immune system as foreign, tumour 

cells carrying these mutations are 

often eliminated. So, it is often very 

challenging to predict which mutations 

are potentially immunogenic. The 

answer to such challenging conditions 

are good cancer vaccines. 

MedGenome has built a 

bioinformatic pipeline to predict 

potential cancer vaccines by analysing a 

patient’s tumour using next generation 

SCREENING FOR GENETIC 

MUTATION IN COLORECTAL 

CANCER PATIENTS, 

ESPECIALLY THOSE WITH A 

FAMILIAL HISTORY, COULD 

HELP IN IDENTIFYING THOSE 

THAT ARE VULNERABLE TO 

THE DISEASE. 

sequencing. The process involves 

sequencing tumour DNA to identify all 

cancer mutations, using RNA sequencing 

data to ascertain the mutations that 

are expressed by the tumour cells, and 

analysing the properties of the mutated 

amino acid to predict whether it will be 

recognized by the T cell receptor. 

In the lynch syndrome study, the 

patient’s tumour contained over 900 

cancer mutations, of which about 50 

were predicted to be immunogenic 

- which means that these mutations 

or neoepitopes were predicted to be 

recognized by the T cells to mount an 

immune response. Three predicted 

neoepitopes were tested in an assay 

and were found to activate T cells, 

validating that the prediction was 

correct. These three neoepitopes can 

be used as vaccines for treating the 

patient. It is likely that many of the 

50 predicted epitopes will also be 

immunogenic, although it was not 

tested in the experiment. The assay is 

time consuming, laborious and requires 

specialized skill-sets to perform. 

According to Dr. Rakshit Shah, 

surgical oncologist, KCHRC, Vadodara, 

the screening for genetic mutation in 

colorectal cancer patients, especially 

those with a familial history, could help 

in identifying those that are vulnerable 

to the disease. 

“Such genetic-based screening 

could be an efficient way of preventing 

colorectal cancer. Families with history 

of colorectal cancer like Lynch syndrome 

should be advised to undergo genetic 

screening and if they carry mutations 

like MLH1, they are likely to develop the 

disease before the age of 50. “Our study 

is unique, as genetic screening in familial 

colorectal cancer has not been widely 

reported in India,” he added. 

“Given that Lynch syndrome has 

limited treatment options, this study 

provides a basis for considering a 

cancer vaccine approach that could 

be used either as monotherapy or in 

combination with established immunooncology 

or chemotherapy drugs,” said 

Dr. Amit Chaudhuri, who co-authored 

the study. 

Talking about the potential 

development of the vaccine, Dr 

Chaudhuri added that the company’s 

pipeline is the front-end of a long chain 

of processes that will lead to a product 

that can be given to the patient. “A 

big challenge is GMP manufacturing 

of peptides for individual patients, 

and formulating the peptides with 

appropriate adjuvants so that the 

vaccines can evoke a strong immune 

response in the patient.,” he added. 



esearch 

PRETERM RISK HIGHER 

WITH ART: STUDY 

Lack of surveillance and the absence of procedural guidelines are leading 

to an alarming rise in ART-linked preterm births 

JEETHA D’SILVA 

Advances in reproductive 

technology have benefited many 

women, but it is only recently 

that the collateral risks involved in these 

procedures have come to light. A recent 

study conducted among 113 women 

in Mumbai found that the incidence of 

preterm births was alarmingly high in 

women who have conceived through 

Assisted Reproductive Technology (ART). 

The study, conducted by the National 

Institute for Research in Reproductive 

Health (NIRRH) and the Indian Council 

of Medical Research (ICMR), found 

that 76.23% of such women had 

preterm deliveries. Pregnancy related 

complications like pre-eclampsia 

(15%), gestational diabetes (11%) and 

heterotopic pregnancy (3%) were also 

found to be significantly high in this 

cohort. 

Dr Anushree Patil, scientist, NIRRH, 

and the lead author of the study said 

that the higher incidence of preterm 

births was mostly due to the increase 

in pregnancies among women over 

the age of 35 years and the fact that 

most ART procedures have higher order 

multiple births. 

“The profile of most of the patients 

who come in for ART procedures puts 

them at high risk. The average age is 

above 37 and many of them have been 

treated for fibroids and/or diabetes and 

other conditions. In addition, some of 

them may have undergone previous 

surgeries because of which the risk of 

preterm deliveries is higher,” says Dr 

Ameet Patki, medical director, Fertility 

Associates, and the past secretary 

general of Indian Society for Assisted 

Reproduction (ISAR). 

Of the 113 women who were part 

of the study, 51 women (45.1%) had 

antepartum haemorrhage. Out of 

these, 45 women (35.9%) had bleeding 

episodes during the 1st trimester, 

of which four sustained pregnancy 

losses. Ten women had bleeding 

episodes during the second trimester, 

five of which were terminated. All 

the women were given progesterone 

supplementation to support the 

pregnancy till 12 weeks of pregnancy. 


18 women (15.9%) required the use 

of tocolytic agents to arrest or prevent 

preterm labor in the late second and 

early third trimester. 

Multiple gestations were observed 

in 51 participants (45.1%) and singleton 

pregnancies in 62 participants 

(54.9%). The high incidence of multiple 

gestations can be correlated with 

the high incidence of preterm births 

observed in this study. 

Higher in India 

The World Health Organization reports 

that about 15 million babies – or around 

10 percent – are born prematurely 

around the world every year. In India, 

the incidence is higher. According to the 

National Health Portal, preterm births 

account for about 13% of all births in 

India. Preterm births are a significant 

health problem. Complications due to 

preterm birth is the leading cause of 

mortality in neonates, accounting for 

almost 1 million deaths worldwide each 

year. 

Besides, preterm babies that survive 

might require prolonged neonatal 

intensive care and are at a greater risk 

of severe impairment and morbidities 

such as cerebral palsy, sensory deficits, 

learning disabilities and respiratory 

illnesses. The cost associated with 

providing medical care and support to 

preterm babies could run into several 

lakhs, and could hence be well out of 

the reach of many people. 

“When you talk to couples who 

wish to undergo ART, it is important to 

counsel them and inform them about 

the risks. Providing medical care for 

a baby that is born preterm could be 

financially draining as the cost could be 

between Rs 10,000 to Rs 15,000 a day,” 

said Dr Patki. 

It is also important that these 

pregnancies are closely supervised. 

With ART clinics coming up in smaller 

cities and towns, more people now have 

access to these procedures, but these 

mofussil areas often do not have the 

infrastructure to care for babies that are 

born preterm. “We also need to create 

awareness. We now have a test – called 

the fibronectin test – which costs 

approximately Rs 4,000, 

INCIDENCE OF PRETERM BIRTHS 

HIGHER IN INDIA 

WORLD 

15 

million 

through which we can ascertain the 

risk of preterm deliveries. Patients who 

show a higher risk can be identified and 

managed appropriately,” he added. 

In addition, administering 

betamethasone as a prophylactic in 

the seventh month helps to accelerate 

lung maturity in the foetus so this can 

greatly reduce complications in babies 

that are born preterm. In case of the 

early onset of labour in high-risk cases 

in remote areas, medicines should be 

given as early as possible to slow down 

the process, and the patient should be 

transferred to a medical centre that is 

equipped with NICU facilities to provide 

optimum care for the neonate, Dr Patki 

added. 

Lacking data 

10% 13% 

ART CLINICS ARE COMING 

UP IN SMALLER CITIES AND 

TOWNS. BUT MOFUSSIL 

AREAS OFTEN DO NOT HAVE 

THE INFRASTRUCTURE TO 

CARE OF BABIES THAT ARE 

BORN PRETERM. 

The findings of the Mumbai study, the 

first of its kind in India, are similar to 

INDIA 

babies are born prematurely 

around the world in a year - 

The WHO reports 

those of such studies conducted in 

the West. However, as the researchers 

point out, there is lack of data in the 

Indian context, unlike in the West 

where such pregnancies are extensively 

documented. “The Centre for Disease 

Control in Atlanta has very detailed 

records of such pregnancies, which 

make it easier for researchers to study 

the data,” Dr Patil said, emphasising the 

need for setting up a robust surveillance 

system in India. 

“With the growing use of ART, there 

is a strong need to develop a National 

ART surveillance system in India like the 

one in CDC Atlanta. Mechanisms need to 

be built into the reporting systems like 

the National ART Registry of India to get 

complete data on the pregnancy course 

and outcomes of ART conceptions,” the 

researchers stated in their study. 

The researchers also called for 

the formulation of guidelines for 

ART procedures. With multi-foetal 

pregnancies being very common in 

assisted reproductive technologies, 

the risk of preterm deliveries is also 

subsequently higher. “In most ART 

procedures, multiple embryos are 

transferred. This often leads to multifoetal 

pregnancies which could itself 

lead to preterm deliveries. Hence, there 

is a need to restrict the number of 

embryos that are transferred. This 

needs to be done at the policy level,” 

Dr Patil said. 


cover story 

KNOWING 

THE 

UNBORN 

Non-invasive, cfDNA-based approach opens exciting 

frontiers in prenatal genetic probe 


S HARACHAND 

The trajectory to determine the risk of foetal abnormalities 

of genetic origin has been made a lot simpler and safer 

for clinicians today with the advent of non-invasive 

prenatal testing (NIPT). 

Till a few years ago, the detection and diagnosis of 

autosomal aneuploidies involved a multi-step process. The 

combined first-trimester screening (FTS) to assess the risk 

comprises the analysis of the pregnancy-associated plasma 

protein A and the free beta-human chorionic gonadotropin 

in the maternal blood, plus an ultrasound measuring foetal 

nuchal translucency (NT) thickness. The detection rate of the 

two biochemical marker analysis, in combination with NT 

ultrasound, has only been around 75%, with 5% false positives. 

A positive finding invariably led to invasive procedures like 

amniocentesis or chorionic villus sampling (CVS) to confirm the 

diagnosis. Extraction of foetal samples for genetic evaluation 

causes considerable distress to both the unborn foetus and 

the pregnant woman. Besides, the method itself carries a risk 

of miscarriage, especially when carried out in locations where 

expertise and facilities are inadequate. 

Genomic abnormalities are the leading cause of birth 


defects, including foetal growth retardation and pregnancy 

complications. NIPT, in a technological breakthrough, now 

makes it possible to determine the genomic status of the 

foetus by analysing the circulating foetal DNA in the maternal 

blood. 

NIPT has a sensitivity of 99% and a specificity of 99.92% 

for trisomy 21, which detects Down’s syndrome and nearly 

similar level of accuracy for trisomy 18 and trisomy 13 -- the 

common autosomal aneuploidies. 

Cell-free foetal DNA, or the DNA of placental origin, 

comprises less than 10% of the DNA in the blood of a pregnant 

woman. The ’foetal fraction’ analysis can 

be done earlier than any other pregnancy 

screening or diagnosis. It helps to complete 

testing formalities earlier in those receiving a 

negative result. As a sufficiently informative 

test with better accuracy, it obviates the 

need for other investigations. 

The increased level of sensitivity and 

specificity in detecting aneuploidies makes 

NIPT a better option for patients and 

clinicians. Even though its use is currently 

limited to screening purposes and not for 

diagnosing, several countries, including the 

Netherlands, have already implemented NIPT as a part of their 

national prenatal screening programme. 

Evidence from studies conducted in low-risk, general 

populations shows that NIPT can be considered an 

alternative to the current first-tier testing for first-semester 

prenatal screening in many healthcare settings. Also, there 

are indications that the number of invasive foetal tests has 

decreased considerably since the introduction of NIPT in many 

parts of the world, including in the US and Australia. Many 

women who previously would have had invasive testing are 

choosing NIPT because of the small risk of pregnancy loss. 

”NIPT has seen unprecedented, rapid clinical adoption 

with studies showing a decrease in both the number of 

traditional screening tests and invasive diagnostic procedures,’’ 

says Maximilian Schmid, MD, Head of Medical Affairs, Roche 

Sequencing Solutions, California. Roche’s Harmony prenatal test 

to detect trisomy 21, 18 and 13 is currently available in more 

than 100 countries, with more than 1.4 million patient samples 

tested, he adds. 

Expanding potential 

THE ’FOETAL FRACTION’ 

ANALYSIS CAN BE DONE 

EARLIER THAN ANY 

OTHER PREGNANCY 

SCREENING 

OR DIAGNOSIS. 

Recent advances in genome sequencing have broadened 

the scope of NIPT further. Going by the trend, disorders 

of monogenic origin are logically the next in line. 

Hemoglobinopathies such as thalassaemia and sickle cell 

anaemia are already brought under its 

purview. Since the principle of cfDNA involves 

the analysis of the entire foetal genome 

in maternal plasma, NIPT can, technically, 

look beyond chromosomal abnormalities 

to Mendelian disorders and genetic risk 

profiles for multifactorial diseases, studies 

say. There is, virtually, no limit to the number 

of diseases and conditions that can be 

predicted through the technology. 

Leading companies have already 

expanded their panel portfolio to include 

microdeletion syndromes like DiGeorge. 

“Deletion of 22q11.2 is the second most common 

identifiable genetic cause of developmental delay and major 

congenital heart disease after Down syndrome. Occurring 

in as many as 1/1,000 pregnancies, it is the most common 

microdeletion syndrome,” according to Dr Schmid. 

As demonstrated with 22q11.2 deletion, Roche will 

continue to focus on adding clinically meaningful content to its 

test offerings, he added. 

NIPT is the best technology that is available today for 

screening chromosomal disorders in pregnancy, and it is being 

recommended by obstetric and gynaecological societies the 

world over, points out Dr. Priya Kadam, Programme Director 

- NIPT, MedGenome Labs, a genomics-based research and 

diagnostics company from Bengaluru. 

DOWN‘S DETECTION 

NIPT has a sensitivity of 99% and a 

specificity of 99.92% for trisomy 21, 

which detects Down’s syndrome. 

FTS/NT scan 

DETECTION RATE T21 

NIPT 

73% 99% 

Population risk 

set at 

1/800 

False-positive rate 

of FTS 

4.8% 

False-positive rate 

of NIPT: 

< 0.1% 

Iatrogenic miscarriage: 

miscarriage due to 

invasive procedures 

1% 


According to Dr Kadam, it would be a better idea to have 

all pregnant women go through NIPT irrespective of their risk 

profile because genomic changes in the foetus can occur due 

to many factors. For instance, spontaneous chromosomal 

disorders, which is the most common type of chromosomal 

disorder, including Down’s syndrome, Edwards syndrome and 

22q or DiGeorge syndrome, occurs during the pregnancy sans 

any previous family history. “In this case, not even the parents 

are carriers. The changes are spontaneous. It is important to 

note that in the case of family history or suspected genetic 

mutation in parents, one will be careful or cautious about 

the pregnancy. But, so far as spontaneous disorders are 

concerned, there is no alert factor, so it is recommended that 

every pregnancy should be screened for certain chromosomal 

disorders,” she explained 

At present, India has several tests available for detecting 

almost all the disorders. 

Of late, companies have even started marketing tests that 

track down single point mutation disorders in India. 

According to Dr Shailesh Pande, Consultant-HOD, Dept. 

of Medical Genetics, Metropolis Healthcare Ltd, a wide range 

of maternal serum screening test from dual marker to NIPS 

are available. Proper genetic counselling and appropriate test 

selection can really help to identify at risk population for foetal 

chromosomal abnormalities. 

Addressing awareness gap 

Even as genomic advances have significantly improved 

screening and diagnosis of chromosomal conditions prenatally, 

they have also created new challenges for health professionals 

and families. 

The growing number of available tests are likely to 

have positive effects on prenatal care. However, the level 

of awareness about them among patients and providers 

continues to impede their uptake. 

“Obstetricians have poor awareness of foetal therapy 

Obstetricians have 

poor awareness 

of foetal therapy 

conditions and 

tend not to advise 

patients correctly. 

Dr Anita Kaul 

Clinical Director, 

Apollo Centre for Fetal 

Medicine, New Delhi 

NIPT 

AVAILABLE 

IN INDIA* 

Down’s syndrome 

(trisomy 21) 

Edward’s syndrome 

(trisomy 18) 

Patau syndrome 

(trisomy 13) 

Cri-du-chat syndrome 

(5p minus syndrome) 

Wolf-Hirschhorn syndrome 

(deletion 4p syndrome) 

Jacobsen syndrome 

(11q deletion disorder) 

Klinefelter’s syndrome 

(presence of an additional 

X chromosome in males) 

Turner syndrome 

( presence of only a 

single X chromosome in 

females) 

XYY syndrome 

XXX syndrome 

Certain monogenic disorders 

*List incomplete 


IMPROVING GENETIC QUOTIENT 

Genetic screening to enable health assessment today for healthy tomorrow 

DR RAJANIKANTH VANGALA 

Empowering a mother is enabling 

a brighter future for the country. 

A major goal of clinicians is to bring 

down maternal mortality and premature 

births and do prenatal defect detection. 

This goal can be achieved by prenatal 

screening for birth defects, which, until 

recently, required invasive methods like 

collecting amniotic fluid, which contains 

foetal cells -- mostly of epithelial origin 

-- or chorionic villus samples, which 

have mesodermal connective tissue 

and trophoblastic cells of the placenta. 

These invasive techniques do carry a 

greater risk, including that of foetal loss. 

However, the increasing knowledge about 

circulating cell-free fetal DNA (ccffDNA) 

and its presence in the mother’s blood 

has led to the development of noninvasive 

prenatal screening or testing 

(NIPS or NIPT). Every human being carries 

cell-free DNA. However, pregnant women 

carry around 10-15% ccffDNA, depending 

on several factors such as the inverse 

association with an increase in maternal 

weight. These ccffDNA fractions from 

each chromosome can help in identifying 

specific genetic aspects or defects in the 

foetus. For example, statistically significant 

higher levels of DNA fragments from 

chromosome 21 correlate with trisomy 21 

(Down syndrome). The small amounts of 

DNA fragments are further analyzed in 

bioinformatics by comparing them with 

reference human genome to identify 

anomalies. Cost-effective, targeted 

sequencing has been developed now, for 

example, for chromosomes 13, 18, 21, X 

and Y. 

Adhering to guidelines 

NIPS was introduced in India in 2012 

and is now spreading quickly in all major 

cities. There are approximately 26 million 

births every year in India and NIPS 

could truly help improve health systems. 

WHILE NIPS MAY SOON 

BECOME POPULAR IN CITIES 

IN INDIA, THE PENETRATION 

OF RURAL AREAS WILL BE 

A HUGE HURDLE AS EVEN 

BASIC MEDICAL SERVICES 

ARE YET TO BE MADE 

UBIQUITOUS THERE. 

However, it is imperative that medical 

specialists and obstetricians be aware 

of the relevant recommendations and 

guidelines so that the test can be used 

properly. Based on the guidelines of 

American College of Medical Genetics and 

Genomics (ACMG), NIPS has been limited 

to screening assessments and is not used 

for diagnostics. This suggests that there 

may be potential residual risk of disease, 

albeit very low, even if the test comes 

back normal. However, this is true in case 

of any other biochemical or ultrasound 

study. This aspect must be explained to 

the patient clearly. Would-be parents and 

family in India may expect these tests 

to be 100% accurate, like in the case of 

invasive tests such as amniocentesis and 

chorionic villi tests. The recommendations 

and guidelines must be adhered to in 

explaining the scientific rationale of such 

tests, and probably, a simplified metaanalysis 

of relevant studies could be 

presented to the patient. 

One of the most important factors 

in a healthy pregnancy is the age of 

mother at the time of giving birth. In 

India, the proportion of women who are 

greater than 35 years of age at the time 

of delivery is increasing to 2-5%. The 

second important factor to be considered 

is the high rate of consanguineous 

marriages in the country, leading to 

increased incidences of birth defects. 

Even as chromosomal aneuploidies are 

increasing, there are very few centres 

that offer quality services for premarital 

or prenatal genetic screening / testing 

and counselling. While NIPS may soon 

become popular in cities in India, the 

penetration of rural areas will be a huge 

hurdle as even basic medical services 

are yet to be made ubiquitous there. 

One of the important mechanisms that 

can help in reaching out are referrals to 

non-governmental clinics and centres. 

Furthermore, many rural and peri-urban 

patients refuse screenings or procedures 

due to socio-cultural and religious reasons 

related to the sanctity of pregnancy. There 

is an urgent need for bringing awareness 

among all sections of the society about 

conditions and tend not to advise patients correctly,’’ says Dr 

Anita Kaul, Clinical Director, Apollo Centre for Fetal Medicine, 

New Delhi. The ever-increasing possibilities of genetic screening 

also make doctors a bit uncertain. 

“As doctors, we are not reassuring the patients in the way 

we used to, because we always keep saying that you haven’t 

done all the possible tests that can be run on this foetus, so we 

cannot allay your anxiety completely.’’ 

Earlier, the obstetrician could order for a karyotyping and 

inform the patient that “we’ve done the only genetic test 

available and as that is fine, the baby should be ok,’’ beams Dr 

Kaul. The scenario has changed completely, now. 

“There are so many tests available, so naturally there is 

confusion in the market,’’says Dr Sheetal Sharda, Consultant 

Clinical Geneticist, MedGenome. 

The bigger challenge, as far as the genetic tests are 

concerned in India, avers Dr Sharda, is the lack of awareness 

about which tests are already available in the country. 

To address this issue, MedGenome has developed certain 

modules to help doctors choose the most appropriate test, 


the value of science when adopted 

in correct ways. This also means that 

companies and the government must 

invest outside sequencing technologies 

and personnel training. 

Translating scientific knowledge 

Improving the molecular or genetic 

quotient will determine the future 

progress of humanity. Both commercial 

and not-for-profit organizations must 

come forward with unique models of 

translating scientific knowledge to the 

layman. We all know that science is the 

basis of the modern medical practices 

and progress that can truly reduce the 

disease burden. The majority of scientists 

work in their laboratories and publish 

in scientific journals which are not 

suitable for general public consumption. 

However, scientists always want to 

translate their knowledge for public 

benefit. Presently there are no platforms 

for this purpose, which opens up great 

opportunities. It is the right time for 

clinicians and scientists to join hands 

in grabbing these opportunities and 

creating platforms to translate molecular 

and clinical knowledge outcomes to 

the public. This can truly help devise 

an ethical way of bringing change in 

the society and in transmitting the true 

value of technological development. 

The ethical discussion also brings up 

the question of pricing and affordability. 

Even if prices are reduced, NIPS will 

still be a financial burden among lessadvantaged 

populations. They may, in 

spite of having knowledge of genetics. 

give religious or other reasons for not 

availing the services. A novel mechanism 

of subsidy for economically weaker 

sections may see a surge in the usage 

of the technology and give better 

value addition to scientific discoveries. 

Giving birth to a baby with genetic 

abnormalities is often seen as a huge 

burden by families in the absence of 

a support system for the parents 

and the children. This can become 

a major cause of concern when 

there are an increased number of 

women seeking abortions, and in places 

where such abortions are illegal, they 

end up receiving unsafe abortions. 

These aspects need to be understood 

thoroughly before taking NIPS services 

ahead in the future. 

The majority of NIPS offered in 

low- and middle-income countries, 

including India and China, are based 

on European or US accreditations. The 

genetic screening does not generally 

come under local regulatory oversight. 

The legal provisions in India, which tend 

to focus on abortion and reproductive 

technologies, must also consider the 

value of giving proper prenatal detection 

of foetal aneuploidy. This gives time to 

families to be prepared for the birth, 

and have all the required resources to 

deal with the complications, including 

the social, moral and psychological 

consequences. The legal provisions 

on abortions can vary, including the 

regulation on foetal sex determination 

imposed in India to prevent sex selection. 

As India prohibits sex selection, screening 

companies, medical practitioners and 

genetic counsellors must be careful to 

follow the applicable norms. Ultimately, 

the success of any genetic screening will 

depend on the inclusiveness of clinicians, 

scientists, professionals of other fields, 

the public, patients, insurance providers 

and local governments. 

The author is Full-Time 

Director at SciGenome 

Research Foundation, 

Bengaluru 

as they often put forward their queries based on patient 

observation and suspected indications. 

If there is a differential diagnosis, the scientists in the 

company can identify the main etiology or the main genetic 

components that cause a particular kind of disorder and 

suggest the right kind of tests for the patients instantly. 

There could be a number of variations or large chromosomal 

abnormalities. 

Quite often, Dr Sharda continues, MedGenome gets 

requests for spinal muscular atrophy screening after sending 


the sample for exome sequencing. Since 

this disorder is a common case of exome 

7 and 8 gene deletions, it can be initially 

tested in a PCR based small lab. If found 

positive for the said gene deletions, the 

samples can be sent to an academic lab 

for confirmation. “But, later, if they come to 

know that there are other genes such as 

SMN2, which is a pseudogene, also involved 

and that such information is important for 

the prognosis and to know the phenotype, 

then the sample needs to be tested with an 

MLPA (Multiple Ligation-Dependent Probe 

Amplification) test, where we get the ratio 

of how many genes are deleted and how 

many are duplicated. This is important for 

the correct prognosis.” This approach helps 

the patient to actually save cost by avoiding 

unnecessary tests or methods. 

Obviously, a large section of the 

obstetricians in India is lacking the 

latest advances in the field. This is partly 

because genomics is, comparatively, a new 

discipline. It is yet to be made part of the 

medical curriculum. The super-specialty 

DM curriculum has already incorporated 

genetic studies and the methods quite 

elaborately. But the graduation level courses 

are yet to get updated with this emerging, 

but crucial area of medicine. Nevertheless, 

we are moving fast into the era of 

personalised medicine, potentially the most 

accurate disease detection and treatment 

management approach. Here again, 

Obstetrical 

healthcare providers 

will need to 

incorporate more 

education into their 

care pathways. 

Kimberly Martin, M.D. 

Senior Global Medical 

Director, Women’s Health 

Natera Inc 

genetic tests play the most critical role, she 

comments. 

Educating care pathways 

In fact, clinicians have a more active role 

to play in helping pregnant women with 

meaningful options of reproductive choice 

in a milieu of overwhelming genomic 

information. 

“Obstetrical healthcare providers will 

need to incorporate more education 

into their care pathways,’’says Kimberly 

Martin, M.D., Senior Global Medical Director, 

Women’s Health at Natera Inc, a leading 

global player in cell-free DNA testing based 

in San Carlos, California. 

Delving into its practicality, Dr Martin 

observes that it is unlikely that this can 

be achieved using the traditional faceto-face 

encounters alone. There are 

many opportunities for “tech” based 

learning that are currently available and/ 

or in development, including web-based 

videos, apps for phone/computer and even 

telemedicine with online genetic counsellors. 

Constrained by time, providers are now 

receiving assistance from both the industry 

and professional societies to meet the 

growing educational needs. “This should 

translate into them having time to actually 

counsel regarding the decision making about 

testing, which is consonant with the goals 

and values of the family,’’ she recommends. 

Counselling is the most important aspect 

MARKET SHARE OF 

INDICATIONS SCREENED 

UNDER NIPT PANELS 

2017-2027 

Driven by increasing awareness and 

adoption, the global NIPT market is 

anticipated to grow at an annualized 

rate of 15% between 2017 and 2027 

44% 

56% 

24% 

28% 

22% 

14% 

2017 2027 2017 2027 2017 2027 

SOURCE: www.rootsanalysis.com 

CHROMOSOMAL 

ABNORMALITIES 

Trisomy 21 (Down syndrome) 

Trisomy 18 (Edward syndrome) 

Trisomy 13 (Patau syndrome) 

SEX CHROMOSOMAL 

ABNORMALITIES 

Turner syndrome 

Klinefelter syndrome 

Triple X syndrome 

Jacob syndrome 

MICRODELETION 

SYNDROMES 

Cri-du-chat syndrome 

DiGeorge syndrome 

Prader-Willi syndrome 

Monosomy 1p36 

Wolf-Hirschhorn syndrome 


of NIPT, underscore all the guidelines. The objective of any 

prenatal screening activity should be made explicit. In a 

country like India, where the awareness level is rather low 

and familial, social and ethical considerations galore, this 

poses an additional challenge. 

“Doctors, of course, are very open, but we have been 

confronted by situations where the parents hide the 

fact that their daughter is a carrier as it may affect her 

likelihood of marriage,’’says Dr Kaul. This sort of issue can 

present a significant challenge while implementing routine 

prenatal screening to detect hemoglobinopathies as 

proposed by India. 

All this points to the necessity of social change and the 

need to impart the correct knowledge of such conditions 

amongst the public, she adds. 

The awareness level, however, has gone up 

considerably since 2011, when NIPT was introduced, 

according to Dr Kadam. A lot of awareness programmes 

and direct education workshops among the doctors and 

diagnostics players were conducted. Of course, awareness 

about technology has been growing all over the world as 

well.It supported a positive response in the Indian market 

along with exposure to new technologies. The level of 

awareness among the parents and pregnant women is 

also high nowadays. “In fact, we and our hospital partners 

have started getting direct inquiries from pregnant women 

asking about the availability of NIPT tests,’’ says Dr Sharda. 

“But still, I would emphasise the need for more coordinated 

efforts from the industry, the government and the medical 

community to maximise the utility of such technology 

breakthroughs in India,” she adds. 

Some clinicians too seem to corroborate the view 

that the awareness among the public is growing pretty 

fast. “Many patients now come asking for the test 

(NIPT). Sometimes they insist on doing it,’’says Dr Ajay 

Kumar, Additional Professor, Department of Obstetrics & 

Gyenaecology, Government Medical College, Kottayam. 

Most of the time, patients come well-prepared and are 

thoroughly informed about genetic tests. 

Higher costs: Impeding factor? 

Another big barrier that comes in the way is the exorbitant 

cost of genetic tests. Advances in NIPT is better, from the 

provider standpoint, because they can give answers to 

more conditions now. However, for the patient, the costs 

are getting enormous. In the earlier days, a karyotyping 

was good enough and that did not cost much. But now 

a prenatal microarray as the first-line test itself is hugely 

expensive compared with earlier tests. And if the test 

proves non-informative, then going into the option of 

sequencing increases the cost manyfold, says Dr Kaul. 

Many clinicians are yet to adopt the screening test as 

part of their routine practice, though they are aware of 

NIPT. 

“We don’t generally ask patients to do NIPT unless 

we find a higher risk in an anomaly scan or the patient is 

We have started 

getting direct 

inquiries from 

pregnant women 

asking about the 

availability of 

NIPT tests. 

Dr Sheetal Sharda 

Consultant 

Clinical Geneticist, 

MedGenome 

NIPT TARGETING 

SNPS 

Single nucleotide polymorphisms 

or SNPs are small differences in 

the genetic code that do not cause 

disease but allow the creation of 

a unique DNA fingerprint for every 

individual. 

These same differences can 

now be used to tell if twins are 

identical (monozygotic) or fraternal 

(dizygotic). Identical twins have essentially 

identical DNA fingerprints. 

Dizygotic or fraternal twins share 

some of the same DNA but also 

have differences, just like siblings. 

NIPTs use SNPs to evaluate 

the 1 percent of DNA that makes 

patients genetically different from 

one another. 

Natera’s Panorama is the only 

commercially available NIPT that 

specifically analyzes SNPs to determine 

chromosome copy number, 

according to the US diagnostics 

firm. Validated at foetal fraction 

as low as 2.8%, this approach 

sequences cell-free DNA from 

maternal plasma to infer the foetal 

genotype. 

The ability to differentiate 

between maternal and foetal 

placental DNA also enables 

SNP-based tests to identify the 

presence of a vanishing twin and 

to minimize false positives due to 

maternal abnormalities. It also able 

to pinpoint triploidy and complete 

molar pregnancies. The company’s 

validation data have shown a 

combined sensitivity of >99% and 

specificity of >99 for its NIPT. 

Panorama targets 13,392 SNPs, 

covering chromosomes 21, 18, 13, 

X, and Y; additional sets of SNPs 

are targeted for identification of 

microdeletions. A patented algorithm 

is then used to determine 

the chance for foetal chromosome 

abnormalities and foetal sex (when 

requested), says Natera. 


slug 

“Many doctors still cling on to 

the old concept that genetic 

diseases have no treatment” 

Dr IC Verma, Professor and Senior 

Consultant Adviser, Institute of 

Medical Genetics and Genomics, Sir 

Ganga Ram Hospital, who is known as 

the father of human genetics in India, 

talks about the critical nature of the 

country’s genetic disease burden in an 

interview with C H Unnikrishnan. Edited 

excerpts: 

How advanced is India, as a country, 

as far as genetic screening and testing 

technologies and its access are 

concerned? 

Much effort and expense go into 

screening pregnant women for 

chromosomal disease, which affects 

almost 1 in 200 births. The commonest 

of chromosomal disorders is Down 

syndrome, in which there is an extra 

chromosome 21. Its incidence is about 1 

in 800 births, but the incidence is higher 

if the mother’s age is more advanced, 

especially after 38 years. Some doctors 

feel that it is only the older women who 

should be screened for Down syndrome 

in their baby. However, the majority 

of Down syndrome babies are born 

to young mothers. So every woman 

deserves to be offered screening for 

Down syndrome. 

Most of the genetic screening and 

testing technologies are available in 

India. However, some of the tests are 

expensive for the general population, 

and need to be subsidized by the 

government. 

How familiar are Indian doctors 

with these technologies, as genetic 

services are still not fully integrated 

into the existing medical education 

and services? 

Many doctors are ill informed about 

genetic screening and testing. They still 

harbour the old concept that genetic 

diseases have no treatment. Therefore, 

they often feel that there is no need to 

do genetic testing to make a precise 

diagnosis. Most doctors and patients in 

rural areas are not aware that many of 

the genetic disorders can be treated,. 

Do you think there is an urgent 

need of establishing medical genetics 

as an additional department in 

medical education? 

Doctors who regularly read medical 

journals to update their knowledge 

realise the importance of genetics in 

everyday practice. Even the standard 

medical books are loaded with 

information about genetics as applied to 

various diseases. 

India has already started feeling 

the tremendous scarcity of medical 

geneticists and genetic counsellors. 

Only a handful of institutions are 

providing training in medical genetics 

(Sanjay Gandhi Postgraduate Institute 

afraid of invasive procedures. This is because the cost of the 

test is too high. Most of the patients can’t afford it,’’ says an 

obstetrician practising in KIMS Hospital, Thiruvananthapuram, 

preferring anonymity. 

Apprehension about the cost remains the key factor that 

makes many refrain from genetic tests. As a matter of fact, 

the availability of a large number of tests which help pick up 

a variety of genetic disorders has helped costs to come down 

drastically in the last few years, bringing the tests within the 

affordable range of the majority of patients, notes Dr Kadam. 

Yet, many women throughout the world do not have 

access to such tests because of a lack of funds, either the 

result of restrictive terms and conditions of their health 

insurance or due to a total lack of coverage for such 

procedures. Often, these women do not have the financial 

resources required to pay for these tests out of pocket, 

observes Dr Martin of Natera. 

Tech know-how vis-a-vis clinical ability 

NIPT, as mentioned, is recommended only as a screening 

test and not as a diagnostic procedure, despite the huge 

potential of the technology. The ability of cfDNA analysis to 

detect autosomal aneuploidies is far superior to any other 

available tests and the results are nearly comparable with 

those of invasive analysis such as amniocentesis or CVS. 

Nonetheless, the results of NIPT must be confirmed through 

an invasive diagnosis before considering medical termination 

of pregnancy, mandate the guidelines. This is because NIPT is 

less than fully accurate. 

The failure, however, to touch 100% mark is purely 

technical. Most of the current NIPTs employ whole genome 

massive parallel sequencing (MPS) technology and 

use counting of cfDNA fragments to detect autosomal 

aneuploidies. The DNA sequenced comprise DNA of both 

maternal and placental origin. So, factors other than 

aneuploid foetal karyotype. including placental mosaicism, 

vanishing twin, maternal tumour etc., could inevitably signal 

false positives, studies say. 

To tide over this problem and minimise false positives, 

some commercial companies use another approach based 

on single nucleotide polymorphisms. 

Targeted sequencing that maps only the chromosome 

region of interest is yet another technology approach to NIPT. 

Though these tests can give more accurate results, only 

diagnostic techniques like amniocentesis or CVS can say 

with 100% accuracy whether the DNA has a chromosomal 

abnormality. No irreversible decisions should be made based 

upon a high-risk NIPT result in isolation. 


in Lucknow, All India Institute of Medical 

Sciences in Delhi, Postgraduate Institute 

in Chandigarh, Manipal University in 

Mangalore). The total medical geneticists 

in the country may be about 100, which 

is totally inadequate for a country the 

size of India. 

Similarly, these tests only measure the probability 

for a limited number of conditions, while amniocentesis 

and CVS can be used to test for a much broader number 

of genetic abnormalities, emphasises Nateram, which 

makes SNP-based Panorama NIPT. 

Clearly, the technical ability to test for a condition 

does not necessarily correspond with a clinical benefit. 

Hence it is important for the companies to be certain 

about the benefit of every new addition. 

“Test results must aid clinical decision-making and 

should be beneficial to patients. Each condition added to 

a screening panel adds to the overall false positive rate 

of the test and decreases the positive predictive value,’’ 

says Dr Schmid of Roche Sequencing Solutions, which 

recently included 22q11.2 microdeletion testing as part 

of its prenatal test portfolio. Therefore, additional cfDNA 

test menu options must focus on clinically relevant 

conditions and require comprehensive validation studies 

to demonstrate clinical utility in the population to be 

tested. 

Furthermore, counselling becomes more challenging 

with an increase in the complexity of testing options and 

the potential of identifying conditions with an uncertain 

prognosis, according to Dr Schmid. 

Test results 

must aid clinical 

decision-making 

and should be 

beneficial to 

patients. Each 

condition added 

to a screening 

panel adds to 

the overall false 

positive rate 

of the test and 

decreases the 

positive predictive 

value. 

Maximilian 

Schmid M.D. 

Head of Medical 

Affairs, Roche 

Sequencing Solutions, 

California 

HEARING LOSS 

MEDGONOME OFFERS 

GENETIC TESTING 

FOR COUPLES 

MedGenome Labs, a genomicsbased 

research and diagnostics 

company, offers genetic testing 

for couples with a family history of 

hearing loss. 

Awareness and early detection 

are the only ways to prevent 

genetic hearing loss disorders 

from being passed down to next 

generations. 

Couples should undergo 

pre-conception counselling with a 

genetic counsellor, especially when 

there is positive family history 

for a disorder. Such counselling 

sessions help the couple better 

understand the risk to the child as 

well as help recommend a suitable 

prenatal genetic test, according 

to Dr Sunitha Tella, head, Clinical 

Genetics and Fetal Medicine 

Department, Institute of Genetics 

and Hospital for Genetic Diseases, 

Hyderabad. 

“In one such case, the 

first born child had cognitive 

disorders. It was recommended, 

to understand if the hearing 

impairment was due to genetic 

factors basis, which appropriate 

screening measures could be 

taken when they plan a second 

child,” she said. Dr Tella suggested 

the family to undergo genetic 

testing at MedGenome Labs, 

Bengaluru. 

The blood samples of the 

parents and their first child 

revealed their first born had two 

mutations or variants in the GJB2 

gene, which is associated with 

hearing loss, while the parents 

were found to be carrying one 

mutation each, making them 

‘carriers’ of the disease. This meant 

that their child may have 25 per 

cent chance of being affected with 

hearing impairment. 

The foetus was tested 

for these two variants and 

was found that it was only 

harbouring one of the two 

mutations found in the first 

child. In this case the child 

would be a carrier of the 

disease and wouldn’t suffer 

from hearing loss, she added. 

2018 / FUTURE MEDICINE / 25

cover story 

INDIA’S HIGH GENETIC 

DISEASE BURDEN 

Thalassaemia screening could open floodgates for similar tests 

JEETHA D’SILVA 

In August this year, India’s health ministry proposed 

mandatory genetic screening of all pregnant women for 

thalassemia and sickle cell anaemia. Thalassemia is a 

significant health challenge in India with about 10,000 to 

15,000 babies with β-thalassemia major born each year. One 

of the key points of the draft policy is government’s effort to 

reduce the birth of affected children through carrier screening 

and prenatal diagnosis. 

If implemented, it will be the first instance of genetic 

testing becoming widely used in India and could open 

the floodgates for similar tests. The potential is immense. 

For instance, there are almost 3.6 to 3.9 crore carriers of 

β-thalassemia in India, and for sickle cell disease there are 

about 25,00,000 carriers of the gene (Hemoglobin AS) and 

about 1, 25,000 patients of sickle cell disease. 

In addition, India is reported to have one of the highest 

incidence of genetic disorders and birth defects. It is 

estimated that birth defect pervasiveness is 64.4 over 1,000 

live births in the country, with 1 out of every 20 newborns 

admitted to the hospital carrying a genetic disease that 

eventually accounts for nearly 1 out of 10 infant mortality, 

indicating that India has a significant burden of neonates 

with genetic disorders. Globally, the prevalence of genetic 

conditions varies depending on the use of preventive 

strategies, access to prenatal screening, diagnosis and 

the option to terminate a 

pregnancy in case of severe 

birth defects. 

Genetic testing is a relatively new 

science that involves the analysis of 

genes or genetic components, such as 

the DNA, RNA, chromosomes, proteins and 

certain metabolites, of the human body to 

detect variations that could cause disorders or 

inheritable disease. 

“Genetic testing is used quite extensively 

these days. It has applications in every field 

of medicine as many diseases have a genetic 

component,” said Dr. I. C. Verma, senior 

consultant, Institute of Medical Genetics and 

Genomics, Sir Ganga Ram Hospital, New 

Delhi. 


DISORDERS 

&CHALLENGES 

About 10,000 to 15,000 babies with 

β-thalassemia major born each year.Birth defect 

pervasiveness is 64.4 over 1,000 live births 

β-THALASSEMIA 

CRORE 

CARRIERS 

SICKLE CELL ANAEMIA 

3.6 -3.9 25,00,000 

LAKHS 

There are different kinds of genetic testing including 

newborn screening, in which neonates are tested for treatable 

genetic disorders; diagnostic testing, which is used to 

identify a specific monogenic genetic disorder, such as, Down 

syndrome or Trisomy 18. 

Genetic testing is also used for carrier testing, which is 

used to identify people who carry one copy of a mutation 

that, when present in two copies, 

can cause a genetic disorder, such as 

thalassemia and sickle cell disease, 

and predictive testing that is used to 

detect genetic mutations associated with 

disorders that appear later in life. These 

tests can identify mutations that increase 

a person’s risk of developing disorders 

with a genetic basis, such as certain 

types of cancer. 

In the West, genetic testing has 

mushroomed into an industry with 

centres offering at home diagnostic kits 

that can create a risk profile for disease ranging from cancer 

to cardiac disease and almost everything in between. 

This could potentially help patients pre-empt the disease. 

“Once you identify genetic disposition, it is possible to create 

tailor made treatments for these diseases,” Dr Verma said. 

In India, too, there is a growing awareness about genetic 

testing. An internet search leads to numerous outfits within 

India that offer to mail kits that one can send saliva samples 

to and get a detailed genetic profile. 

“More and more people are going in for genetic testing 

and facilities are widely available in bigger cities,” said Dr 

THERE SHOULD NOT BE 

INDISCRIMINATE USE 

OF GENETIC TESTING. 

INSTEAD, IT IS ADVISABLE 

TO GO FOR A TIERED 

APPROACH 

Jayesh Sheth, chairman of Ahmedabad based Institute of 

Human Genetics. “However, there should not be indiscriminate 

use of genetic testing. Instead, it is advisable to go for a tiered 

approach – the first test should ideally be a karyotype test, 

then array complete genetic hybridisation and lastly exom 

studies,” Dr Sheth said. This could ensure that the cost burden 

to the patient is minimised. 

Dr Sheth also recommended the 

setting up of regional and nodal centres 

for genetic testing. These should ideally 

be set up in government hospitals so that 

the reach of genetic tests is greater and 

that the cost is also reduced. Currently, 

though there are many centres for such 

tests, their distribution is largely in the 

urban setting and the semi-urban and 

rural areas have limited or no access. 

In the event of the government making 

pre-natal testing mandatory, the 

implementation of the same could prove 

to be a logistical nightmare. 

Dr Divya Agarwal, a New Delhi based geneticist, stated that 

in a country like ours, it may not be economically possible. 

In addition, doctors feel that the government could do 

well by recommending simpler screening tests rather than 

genetic testing. “Carrier screening for beta thalassemia could 

be done by haemoglobin electrophoresis ,” said Dr Sheth. And 

they also advocated focusing on other preventive measures 

to minimise birth defects, such as encouraging fortification 

of food with essential vitamins like folic acid, which has been 

found to reduce the incidence of spina bifida. 


diagnositcs 

LOST IN TRANSLATION 

Microdeletion syndrome is one of a frequently unsuspected group 

of disorders in prenatal evaluation 

DR PRIYA KADAM 

Thirty nine-year-old Juhi was 

cautiously delighted when she 

learned she was pregnant again. 

She had previously miscarried a foetus 

affected with Down Syndrome. During 

her current pregnancy, she consulted 

a geneticist who suggested a test 

for Down Syndrome and a group 

of disorders called microdeletion 

syndromes. She opted for the test as it 

was non-invasive and accurate. Sadly, 

this time, the foetus was diagnosed with 

another disorder - 22q11.2 microdeletion 

syndrome. Though devastated, Juhi 

appreciated the information she 

received early in pregnancy, and 

accordingly made an informed decision. 

Such information is vital to expectant 

parents for thought-through early 

pregnancy decisions and to avoid 

the distress caused by the birth of an 

abnormal baby unexpectedly. 

Down Syndrome, with an incidence 

rate of 1 in 800 pregnancies, is the most 

common genetic/chromosomal disorder 

and is reasonably known to both the 

medical fraternity and the general 

public. From the 1960s, there have been 

continuously improving approaches 

to screen for and diagnose this and a 

few other significant conditions during 

pregnancy, given the seriousness of 

these conditions. However, there is 

another group of clinically relevant 

disorders caused by the deletion (loss) 

of a small part of a chromosome, 

called microdeletion syndromes. This 

chromosomal loss occurs very early 

during development and is irreversible. 

Microdeletion syndromes are clinically 

important as they are associated 

with intellectual impairment, learning 

difficulties, autism and a host of other 

abnormalities, including those related to 

the heart and the kidneys. The reported 

incidence of microdeletion syndromes is 

1 in 1000 pregnancies. These conditions 

are not easy to detect during pregnancy. 

They were also previously considered 

rare and therefore not high-priority 

candidates for screening programmes. 

Most individuals were/are identified after 

birth, during childhood or even during 

adulthood. 

Unravelling DiGeorge 

Initially, microdeletion syndromes 

were described when patients 

with a cluster of specific features 

(phenotype) were observed together. 

The genetic basis of these conditions 

began to be identified around 30 

CAUSED BY A DELETION IN 

A SMALL AND VARIABLE 

PART OF CHROMOSOME 

22, 22Q11.2 DELETION 

SYNDROME HAS AN 

INCIDENCE OF 1 IN EVERY 

2000 BIRTHS. 

years ago, with the development of 

techniques such as fluorescent in situ 

hybridization. With the development 

of other advanced techniques such 

as chromosomal microarrays, more 

and more areas of such repeated and 

specific chromosomal losses began to 

be identified, which correlated clinically 

observed syndromes. 

22q11.2 deletion syndrome 

is commonly known as DiGeorge 

syndrome. Velocardiofacial syndrome 

and conotruncal anomaly face 

syndrome are the most commonly 

used names for the microdeletion 

syndrome. It is the second biggest 

cause of congenital heart disease and 

developmental delays. Caused by a 

deletion in a small and variable part of 

chromosome 22, it has an incidence of 

1 in every 2000 births. The syndrome 

is associated with heart defects, cleft 

palate, developmental delay, mental 

and psychiatric disorders, endocrine 

disorders, distinct facial features 

and low calcium levels among other 

features. The condition is associated 

with premature mortality, based on the 

severity of individual features. There 

is no cure and the best management 

strategy is a multidisciplinary approach 

aimed at handling individual symptoms. 

Early management of symptoms greatly 

improves outcome. Most of the cases 

occur spontaneously without family 

history, while in 5-10% of the cases, it is 

inherited with 50% risk of transmitting 

the disorder. This risk of carrying an 

affected pregnancy with microdeletion 

syndrome is not related to maternal 

age and the risk remains the same 

throughout a women’s reproductive 

period. 

The syndrome was clinically 

described in English language in 

1960s in children who presented 

with the triad of immunodeficiency, 

hypoparathyroidism and congenital 

heart disease. However, there is a huge 

variability in the presentation and the 

age of recognition of symptoms. Though 

common, the lack of awareness of the 

condition and/or testing methods and 

the huge variability in presentation 

delay diagnosis. The typical age of 

molecular diagnosis is around five 

years after numerous visits to different 

clinical specialties. Early identification 

and management is useful to improve 

the quality of life. Though the condition 

can be suspected during pregnancy 


y ultrasonography if certain structural 

defects and cardiac anomalies are 

seen, there is no regular screening 

programme. Some cases may not have 

signs that can be picked up on an 

ultrasound. 

Cell-free DNA screening 

Over the past two to three decades, 

tests for clear molecular diagnosis have 

been available. In the past four years, 

some of these conditions could be 

screened non-invasively by a new test 

that examines the cell-free DNA from 

maternal blood. Non- Invasive pre-natal 

test (NIPT) is a good screening test for 

the expectant parents, cost permitting. 

NIPT, a simple, non-invasive DNA test, 

involves taking a small amount of 

blood from the mother’s arm to test 

for chromosomal abnormalities in the 

developing foetus. Screening during 

INVASIVE TESTS, 

SUCH AS CHORIONIC 

VILLUS SAMPLING AND 

AMNIOCENTESIS POSE A 

SMALL BUT SIGNIFICANT 

RISK OF MISCARRIAGE. 

pregnancy can help empower the 

expectant parents to be more aware 

of the condition and accordingly seek 

medical help. 

Other diagnostic tests for 

microdeletion syndromes include 

Fluorescent in situ Hybridisation, 

Multiplex Ligation-dependent Probe 

Amplification, Quantitative Polymerase 

Chain Reaction and Chromosomal 

Microarrays. However, these tests are 

performed on actual foetal tissue 

obtained by invasive tests, such 

as chorionic villus sampling and 

amniocentesis. They pose a small but 

significant risk of miscarriage. 

Microdeletion syndromes are a 

group of frequently unsuspected and 

overlooked disorders at pregnancy 

evaluation. Greater awareness among 

clinical fraternity as well as general 

public and the development of a routine 

screening programme would serve the 

population well in identifying these 

disorders early. 

The author is 

Programme Director- NIPT, 

MedGenome, India 


column 

the catalyst 

Revisiting primary care 

The success of Ayushman Bharat programme will depend 

on the effective transformation of point-of-care capabilities 

MURALIDHARAN NAIR 

The Alma Ata declaration of 1978, one 

of the most significant milestones in 

the field of public health, identified 

effective primary care as the very bedrock 

of a health system that aims for universal 

healthcare. The declaration defined primary 

health care as follows: “Primary health 

care is essential health care based on 

practical, scientifically sound and socially 

acceptable methods and technology, 

made universally accessible to individuals 

and families in the community through 

their full participation and at a cost that 

the community and the country can 

afford to maintain at every stage of their 

development in the spirit of self-reliance 

and self-determination.” 

While there cannot be a debate on 

the wisdom behind the tenets of the 

declaration, it is evident from the state of 

healthcare the world over -- developed and 

developing included -- that the spirit of 

the declaration was not pursued. Instead, a 

hospital-centric model gained prominence, 

resulting in a universal challenge of a 

growing disease burden, a widening gap in 

access to care and the unsustainable cost of 

healthcare. However, there has been a call 

from the WHO in recent times to revisit the 

declaration and make it a reference point 

while designing the health systems of the 

future. 

The state of primary health care in India, 

particularly in rural areas, where 70 percent 

of our population lives, is pathetic, as 

evidenced by the statistics below. 

In such a scenario, it is very welcome to 

see the emphasis placed on primary care 

through 1.5 lakhs HWC (health and wellness 

centre) as a critical element of Ayushman 

Bharat, the incumbent government’s 

flagship programme for reforming Indian 

healthcare. However, the success of 

this endeavour will depend on the 

effective transformation of point-of-care 

capabilities: 

INVESTMENT: While 1.5 lakh HWCs is 

an adequate number for the effective 

coverage of population, there is no clarity 

on the timeline by which these will become 

operational, and also on the investment 

needed. One estimate available on the 

government website puts an amount of Rs 

10 lakhs and Rs 7 lakhs as one-time and 

recurring expenditure for enhancing an SC 

to HWC, which translates to approximately 

15,000 cr and 10,000 cr of one time 

and recurring expenditure. Where is the 

provision for this amount, as the current 

provisions being discussed are not enough 

even for the hospital care part of NHPS? 

TRAINING: The effective manning of this 

mega initiative will need innovative thinking 

to increase the supply of required human 

resource and the government has rightly 

planned to upskill nurses and Ayurveda 

doctors to man the SCs. With the expansion 

of focus to include mental health, 

non-communicable diseases and 

rehabilitative care and to leverage 


6 

5 

4 

DISORDERS & 

CHALLENGES 

Mean number of providers with 

degree by State 

MBBS Degree 

Other Degrees 

No Degrees 

3 

2 

0 

Kerala 

West Bengal 

Karnataka 

Punjab 

Andhra Pradesh 

Tamil Nadu 

Gujarat 

technology, even the traditional clinical 

staff at the PHC level will need substantial 

upgradation of their skills. Hence, it is 

imperative that effective resourcing 

on such a large scale will necessitate 

massive training capability for creating 

and sustaining the operations. It will be 

necessary to not delegate this critical 

function to the states. Instead, it should be 

tightly controlled by a central governing 

body for training and certification to ensure 

consistent quality. 

Assam 

Uttar Pradesh 

Bihar 

Rajasthan 

Odisha 

Chattisgarh 

Haryana 

Maharashtra 

Himachal Pradesh 

Madhya Pradesh 

USE OF ARTIFICIAL 

INTELLIGENCE BASED 

APPLICATIONS TO AID THE 

PRIMARY CAREGIVER 

CAN DEMOCRATISE 

CLINICAL KNOWLEDGE. 

Jharkand 

Uttaranchal 

SOURCE: Quality and 

Accountability in Health: Audit 

Evidence from Primary Care 

Providers, J Das, et al 

TECHNOLOGY: Effective use of technology 

for both enhancing point-of-care 

capabilities and bridging access to specialist 

advice when needed through telehealth 

applications will be critical. 

Use of artificial intelligence (AI) based 

applications to aid the primary caregiver 

can democratise clinical knowledge 

(applications for such use are being 

tested in the UK and other countries) and 

revolutionise the effectiveness of care at the 

last mile. 

Culture of cost containment: We have a 

very large underprivileged population and 

the budgets will never be enough. Hence, 

being efficient will be a moral need. This 

will necessitate laser-like focus on cost 

containment, complete with a dedicated 

organisation and a holistic approach, 

including infrastructure design, process 

flow, choice of formulary (e.g.: standardise 

centrally, maximise use of quality generics), 

choice of technology (e.g.: maximise frugal 

technology in diagnostics), contracting 

(e.g.: maximise central purchases for 

leveraging the economies of scale) 

productivity norms, a performance criteria 

underpinned by a robust measurement and 

a reporting framework to facilitate timely 

and effective action 

EFFECTIVE SUPPLY CHAIN: Public 

health facilities have been notorious for 

unavailability of medicines and related 

provisions. which can seriously hamper 

the outcome expectation from primary 

care. Hence it is imperative to have an 

agile supply chain management to ensure 

near 100 percent availability even while 

optimising the burden of inventories.. 

The author has long-standing association with 

EY India but the views are strictly personal. 


drug approvals 

Pembrolizumab 

in combo with 

pemetrexed 

The European Commission 

has approved 

pembrolizumab (Keytruda), 

Merck's anti-PD-1 therapy, in 

combination with pemetrexed 

(Alimta) and platinum 

chemotherapy for the firstline 

treatment of metastatic 

nonsquamous non-small 

cell lung cancer (NSCLC) in 

adults whose tumours have 

no EGFR or ALK positive 

mutations. 

This approval, the first 

in Europe for an anti-PD-1 

therapy in combination with 

chemotherapy, is based on 

data from the pivotal Phase 3 

KEYNOTE-189 trial in patients 

with metastatic nonsquamous 

NSCLC regardless of PD-L1 

tumour expression status. 

The data demonstrated a 

significant survival benefit 

for the combination of 

Keytruda with chemotherapy 

as compared with standardof-care 

chemotherapy alone 

– reducing the risk of death 

in these patients by half, the 

company said. 

The approval allows 

marketing of the Keytruda 

combination in all 28 EU 

member states plus Iceland, 

Lichtenstein and Norway, 

Cassipa sublingual film 

for opioid dependence 

The US FDA granted 

approval to Teva 

to market Cassipa 

(buprenorphine and 

naloxone) sublingual 

film for the maintenance 

treatment of opioid 

dependence. 

"We’ve taken a number 

of steps to advance the 

development of new FDAapproved 

treatments for 

opioid dependence and 

encourage health care 

professionals to ensure 

patients are offered an 

adequate chance to benefit 

from these therapies," said 

FDA Commissioner Scott 

Gottlieb, M.D. 

Opioid use disorder 

should be viewed similarly 

to any other chronic 

condition that is treated 

with medication, he added. 

Medication-assisted 

treatment (MAT) is a 

comprehensive approach 

that combines FDAapproved 

medications 

(currently methadone, 

buprenorphine, or 

naltrexone) with counseling 

at the approved dose of 

200 mg every three weeks 

until disease progression or 

unacceptable toxicity. 

Keytruda is also approved 

in Europe as a monotherapy 

for the first-line treatment 

and other behavioural 

therapies to treat patients 

with opioid use disorder 

(OUD). 

Regular adherence to 

MAT with buprenorphine 

reduces opioid withdrawal 

symptoms and the desire 

to use opioids, without 

causing the cycle of highs 

and lows associated 

with opioid misuse or 

abuse. At proper doses, 

buprenorphine also 

decreases the pleasurable 

effects of other opioids, 

making continued opioid 

abuse less attractive. 

According to the 

Substance Abuse and 

Mental Health Services 

Administration, patients 

receiving MAT for treatment 

of their OUD cut their risk 

of death from all causes in 

half, according to an FDA 

release. 

In June, the FDA also 

approved the first generic 

versions of Suboxone 

(buprenorphine and 

naloxone) sublingual film in 

multiple strengths. 

of metastatic squamous 

or nonsquamous NSCLC in 

patients whose tumours have 

high PD-L1 expression with 

no EGFR or ALK positive 

tumour mutations and for 

previously-treated patients 

with locally advanced or 

metastatic NSCLC whose 

tumours express PD-L1. 

Lumoxiti to 

treat hairy cell 

leukaemia 

T 

he US Food and Drug 

Administration gave its 

nod to Lumoxiti 

(moxetumomab pasudotoxtdfk) 

for the treatment of 

adult patients with relapsed 

or refractory hairy cell 

leukaemia (HCL). 

Lumoxiti was approved 

under FDA’s Priority Review. 

The approval is based on data 

from the phase III, singlearm, 

open-label ‘1053’ trial of 

Lumoxiti monotherapy in 80 

patients who have received 

at least two prior therapies, 

including a purine nucleoside 

analog. 

The primary endpoint of 

the trial was durable complete 

response, AstraZeneca and 

MedImmune said in joint 

press communication. 

The median time to 

haematologic remission was 

1.1 months. At data cut-off, the 

median duration of complete 

response was not yet reached 

after a median 16.7 months of 

follow-up. 

Capillary leak syndrome 

(CLS) and haemolytic uraemic 

syndrome (HUS), including 

life-threatening cases of each, 

have been reported among 

patients treated with Lumoxiti. 

In the combined safety 

database of 129 HCL patients 

treated with Lumoxiti, Grade 3 

or 4 CLS occurred in 1.6% and 

2% of patients, respectively. 

Grade 3 or 4 HUS occurred 

in 3% and 0.8% of patients, 

respectively. 

In the ‘1053’ trial of 80 

patients, the most common 

Grade 3 or 4 adverse 

reactions were hypertension, 

febrile neutropenia, and HUS. 

HUS was the most common 

adverse reaction leading to 

discontinuation. 

Lumoxiti, which targets 

CD22 transmembrane protein, 


is AstraZeneca's first antibodydrug 

conjugate (ADC). 

Merck to launch 

two new HIV-1 

medicines 

Delstrigo and Pifeltro are 

cleared for sale in US to 

treat HIV-1 infection, Merck 

said. 

Delstrigo is a once-daily 

fixed-dose combination 

tablet of doravirine (100 

mg), lamivudine (3TC, 300 

mg) and tenofovir disoproxil 

fumarate (TDF, 300 mg). 

Pifeltro (doravirine, 100 mg) 

is a new non-nucleoside 

reverse transcriptase inhibitor 

(NNRTI) to be administered 

in combination with other 

antiretroviral medicines. 

Both Delstrigo and 

Pifeltro are indicated for 

the treatment of HIV-1 

infection in adult patients 

with no prior antiretroviral 

treatment experience, and 

are administered orally once 

daily with or without food. 

Delstrigo contains a boxed 

warning regarding posttreatment 

acute exacerbation 

of hepatitis B infection. 

The approvals are based 

on findings from the pivotal, 

randomized, multicenter, 

double-blind, active controlled 

Phase 3 trials, DRIVE-AHEAD 

and DRIVE-FORWARD, 

evaluating the efficacy and 

safety of Delstrigo and 

Pifeltro, respectively, in 

participants infected with 

HIV-1 with no antiretroviral 

treatment history. 

Jivi cleared for 

hemophilia A 

treatment 

Jivi (BAY94-9027) has 

been granted approval 

for the routine prophylactic 

treatment of hemophilia A in 

previously treated adults and 

adolescents 12 years of age or 

older in the US. 

The recommended initial 

prophylactic regimen for Jivi is 

twice weekly, with the ability 

to dose every five days and 

further individually adjust to 

less or more frequent dosing 

based on bleeding episodes, 

Bayer said. 

The FDA also approved 

Jivi for on-demand treatment 

and the perioperative 

management of bleeding in 

the same population. 

The US FDA approval is 

based on the results of the 

pivotal Phase 2/3 PROTECT 

VIII trial comprised of 

prophylactic dosing, ondemand 

treatment, and 

perioperative management in 

previously treated adults and 

adolescents 12 years of age 

or older with severe 

hemophilia A. 

BAY94-9027 was 

engineered to have an 

Mepolizumab as an add-on therapy for paediatric asthma 

Mepolizumab (Nucala) 

has been cleared for 

marketing by EC as an addon 

treatment for severe 

refractory eosinophilic asthma 

in paediatric patients aged six 

up to 17 years. 

Mepolizumab is the 

first and only approved 

biologic therapy that targets 

interleukin-5 (IL-5), which 

plays an important role in 

regulating the function of 

eosinophils, GSK said. 

Mepolizumab is the firstin-class 

monoclonal antibody 

that targets IL-5. It is believed 

to work by preventing IL-5 

from binding to its receptor 

on the surface of eosinophils. 

Inhibiting IL-5 binding in 

this way reduces blood 

eosinophils. The drug was first 

34 / FUTURE MEDICINE / OCTOBER 2018 

approved in 2015 for severe 

eosinophilic asthma, 

Mepolizumab has been 

studied in over 3,000 patients 

in 16 clinical trials across 

a number of eosinophilic 

indications and has been 

approved in the US, Europe 

and in over 20 other markets, 

as an add-on maintenance 

treatment for patients with 

severe eosinophilic asthma. 

In the US, Japan and 

Canada, it is approved 

as add-on maintenance 

treatment for patients with 

eosinophilic granulomatosis 

with polyangiitis (EGPA). 

Mepolizumab is currently 

being investigated for severe 

hypereosinophilic syndrome, 

nasal polyposis and COPD. 

This marketing 

authorisation is based on a 

partial data extrapolation 

approach which was agreed 

with the paediatrics committee 

(PDCO) of the EMA. With this 

approach, efficacy and safety 

data from the Phase III studies 

included in the mepolizumab 

severe asthma development 

programme for patients 12 

and over were extrapolated to 

children.

extended half-life by 

harnessing proven PEGtechnology 

that delivers 

higher sustained levels of 

FVIII, which extends the 

blood’s ability to coagulate 

for longer. As a site-specific 

PEGylated FVIII, Jivi has a 

half-life of 17.9 hours that 

delivers sustained levels in the 

blood. 

The FDA also approved 

Jivi for on-demand treatment 

and the perioperative 

management of bleeding in 

the same population. 

Eravacycline for 

intra-abdominal 

infections 

The US FDA has granted 

marketing authorisation 

EU nod for Taf-Mek combo for adjuvant 

melanoma therapy 

The EC has approved 

dabrafenib (Tafinlar) 

in combination with 

trametinib (Mekinist) for 

the adjuvant treatment of 

stage III patients with BRAF 

V600 mutation-positive 

melanoma after complete 

surgical resection. 

The approval is based 

on results from the Phase 

III COMBI-AD global study, 

which enrolled more than 

870 patients with stage 

III, BRAF V600E/K-mutant 

melanoma without prior 

anticancer therapy, and 

who were randomized 

within 12 weeks of 

complete surgical resection. 

The BRAF gene 

provides instructions for 

making a protein that 

helps transmit chemical 

signals from outside the 

cell to the cell's nucleus. 

This protein is part of a 

signalling pathway known 

as the RAS/MAPK pathway, 

which controls several 

important cell functions. 

Specifically, the RAS/ 

MAPK pathway regulates 

the proliferation of cells, 

the process by which cells 

mature to carry out specific 

functions, migrations and 

apotheosis. 

This approval is 

the third for Tafinlar in 

combination with Mekinist 

in Europe across a variety 

of tumour types identified 

with a high level of BRAF 

mutation, Novartis said. 

Combination use 

of Tafinlar + Mekinist in 

patients with unresectable 

or metastatic melanoma 

who have a BRAF V600 

mutation is approved 

in the US, EU, Japan, 

Australia, Canada and other 

countries. 

The combination of 

Tafinlar + Mekinist is also 

approved for the treatment 

of metastatic non-small cell 

lung cancer (NSCLC) with 

a BRAF V600E mutation 

in the US and advanced 

NSCLC with a BRAF V600 

mutation in the EU. 

to eravacycline (Xerava) for 

the treatment of complicated 

intra-abdominal infections 

(cIAI). 

In clinical trials, 

eravacycline was welltolerated 

and achieved 

high clinical cure rates 

in patients with cIAI, 

demonstrating statistical noninferiority 

to two widely used 

comparators – ertapenem 

and meropenem, according 

to Tetraphase 

Pharmaceuticals, Inc. 

Eravacycline is indicated 

for the treatment of cIAI in 

patients 18 years of age and 

older. 

The antibiotic drug 

was investigated for the 

treatment of cIAI as part 

of IGNITE (Investigating 

Gram-Negative Infections 

Treated with Eravacycline) 

phase 3 programmes. In the 

first pivotal phase 3 trial in 

patients with cIAI, twice-daily 

intravenous (IV) eravacycline 

met the primary endpoint 

by demonstrating statistical 

non-inferiority of clinical 

response compared to 

ertapenem and was welltolerated. 

In the second phase 

3 clinical trial in patients 

with cIAI, twice-daily IV 

eravacycline met the primary 

endpoint by demonstrating 

statistical non-inferiority of 

clinical response compared 

to meropenem and was 

well-tolerated. In both trials, 

the drug achieved high cure 

rates in patients with Gramnegative 

pathogens, including 

resistant isolates, the drug 

maker said. 

Lanadelumab 

to prevent HAE 

attacks 

Following priority review, 

the US FDA has approved 

lanadelumab-flyo (Takhzyro) 

injection, for prophylaxis to 

prevent attacks of hereditary 

angioedema (HAE) in patients 

12 years of age and older, 

Shire plc said. 

Lanadelumab is a 

monoclonal antibody that 

provides targeted inhibition 

of plasma kallikrein, an 

enzyme which is chronically 

uncontrolled in people with 

HAE, to help prevent attacks. 

The recommended starting 

dose of lanadelumab is 300 

mg every two weeks. A dosing 


interval of 300 mg every four 

weeks is also effective and 

may be considered if the 

patient is attack free for more 

than six months. 

The FDA approval of 

lanadelumab was based 

on data from four clinical 

trials, including the HELP 

(Hereditary Angioedema 

Long-term Prophylaxis) Study, 

the largest prevention study 

conducted to date in HAE, 

according to Shire. 

In the Phase III HELP 

study, lanadelumab reduced 

the number of monthly HAE 

attacks an average of 87% 

(n=27) vs. placebo (n=41) 

when administered at 300 

mg every two weeks and 73% 

(n=29) vs placebo (n=41) 

when administered at 300 mg 

every four weeks. 

Lanadelumab has a halflife 

of approximately two 

weeks and is administered 

as one subcutaneous selfinjection 

every two weeks at 

the recommended starting 

dose. 

Shire added lanadelumab 

to its HAE portfolio with the 

acquisition of Dyax Corp. 

Oral RTK inhibitor 

lenvatinib to 

treat HCC 

The EC has granted a 

marketing authorization 

for the oral receptor tyrosine 

kinase (RTK) inhibitor 

lenvatinib (Lenvima), as a 

single agent for the firstline 

treatment of adult 

patients with advanced or 

unresectable hepatocellular 

carcinoma (HCC) who have 

received no prior systemic 

therapy. 

Lenvatinib is the first 

new, first-line treatment for 

advanced or unresectable HCC 

in a decade to show an overall 

survival treatment effect by 

statistical confirmation of noninferiority 

against standard of 

care, according to a joint press 

statement by Eisai and Merck. 

Lenvatinib's approval 

was based on results from 

REFLECT (Study 304), an 

open-label, phase 3 trial 

where the drug demonstrated 

a treatment effect on 

overall survival by statistical 

confirmation of non-inferiority 

when compared with the 

standard of care, sorafenib, in 

954 patients with previously 

untreated unresectable HCC. 

Lenvatinib also demonstrated 

statistically significant 

superiority and clinically 

meaningful improvements in 

progression-free survival and 

objective response rate. 

Currently, Lenvima is 

marketed in Japan for 

the treatment of HCC and 

in the United States for 

the treatment of first-line 

unresectable HCC. 

In March 2018, Eisai 

and Merck entered into a 

strategic collaboration for the 

worldwide co-development 

and co-commercialization of 

Lenvima. 

Loteprednol for 

pain following 

ocular surgery 

The US FDA has approved 

loteprednol etabonate 

ophthalmic suspension 1% 

(Inveltys) for the treatment of 

post-operative inflammation 

and pain following ocular 

surgery. Inveltys is the first 

twice-daily (BID) ocular 

corticosteroid approved for 

this indication. 

All other ocular steroids 

are approved for four-times-aday 

dosing. The use of ocular 

steroids post-surgery is to 

achieve a rapid reduction of 

inflammation and to promote 

healing of the eye. Therefore, 

ensuring close adherence 

to the steroid regimen is a 

critical factor for physicians in 

the post-surgery care of the 

patient and eventual overall 

success of the procedure, Kala 

Pharmaceuticals, Inc said. 

Kala has initiated a third 

Phase 3 clinical trial, STRIDE 

3 (STRIDE - Short Term Relief 

In Dry Eye), evaluating KPI-121 

0.25% for the temporary relief 

of the signs and symptoms of 

dry eye disease.The company 

expects to report top-line 

results for STRIDE 3 in the 

fourth quarter of 2019. 

Kala also plans to submit 

a New Drug Application (NDA) 

for KPI-121 0.25% during 

the second half of 2018. The 

NDA will include data from 

three clinical trials studying 

approximately 2,000 patients, 

including one Phase 2 trial and 

two Phase 3 efficacy and safety 

trials (STRIDE 1 and STRIDE 2), 

the company said. 

Oxervate, first rhNGF to treat 

neurotrophic keratitis 


Oxervate (cenegerminbkbj 

ophthalmic solution) to 

treat neurotrophic keratitis 

(NK), Dompé announced. 

Neurotrophic keratitis, 

characterised by corneal 

scarring and vision loss, is a 

rare orphan condition. 

Oxervate represents the 

first-ever topical biologic 

medication approved in 

ophthalmology, and is the 

first ever application of 

a human NGF as drug or 

treatment, according to the 

company. 

Oxervate is based on 

cenegermin-bkbj, a novel 

recombinant human nerve 

growth factor (rhNGF) that 

is structurally identical to 

the nerve growth factor 

(NGF) protein that is made 

in the human body, including 

in the ocular tissues. 

The endogenous protein 

supports corneal integrity 

though several mechanisms. 

NGF acts directly on 

corneal epithelial cells to 

stimulate their growth and 

survival. In addition, NGF 

is known to bind receptors 

on lacrimal glands to 

promote tear production, 

which may provide the 

eye with lubrication and 

natural protection from 

pathogens and injury. The 

protein also has been shown 

experimentally to support 

corneal innervation, which is 

lost in neurotrophic keratitis. 


egulatory 

FDCs ON THEIR WAY OUT? 

India slaps ban on 328 drug combos finding no therapeutic justification 

for such concoctions 

The recent ban of 328 Fixed Dose 

Combinations (FDC) drugs with 

immediate effect by the Union 

Health Ministry is set to cost roughly 

Rs 2500 crore to the pharmaceutical 

industry in India. The ban is likely to hit 

40-60 pharmaceutical companies and 

around 6000 brands, according to the 

industry experts. 

The health ministry banned 

manufacture, sale and distribution of 

328 FDC drugs after an expert panel, 

which was set up by the Drugs Technical 

Advisory Board (DTAB) to study safety, 

efficacy and therapeutic justification of 

the drugs, recommended that there 

is no therapeutic justification for the 

ingredients contained in 328 FDCs 

and that these FDCs may involve risk 

to human beings. The list of banned 

FDCs include many popular drugs. 

Meanwhile, the ministry has restricted 

manufacturing, sale and distribution of 

six other FDCs drugs subject to certain 

conditions. FDCs are drugs 

in combinations of two or more 

active ingredients in a fixed ratio in a 

single dosage. 

“The industry will see an erosion 

of about Rs 2500 crores following the 

ban of the FDC drugs. There are certain 

companies who have majority of these 

products and they will be affected 

badly,” said Daara B. Patel, Secretary 

General, Indian Drug Manufacturers’ 

Association (IDMA). However, he added 

that it won’t have much impact on the 

pharmaceutical industry in India, which 

has a size of over Rs 1 lakh crore. 

FDCs unsafe 

Welcoming the ban, All India 

Drug Action Network (AIDAN), an 

RATIONALITY NEEDS 

TO BE DEMONSTRATED 

BY SAFETY, EFFICACY 

AND THERAPEUTIC 

JUSTIFICATION, SAYS AIDAN 

independent network of several non 

government organizations working to 

increase access and improve the rational 

use of essential medicine, said in a 

statement that none of the FDCs meet 

the criteria of a rational and safe FDC. 

The people of India have been made 

the consumers of unsafe medicines 

for too long and this is one step 

towards rectifying the grave situation 

of a pharma market brimming with 

innumerable irrational FDCs. 

“It reinforces our constant demand 

for approval, and use, of only rational 

medicines in India. Rationality needs 

to be demonstrated by safety, efficacy 

and therapeutic justification. None of 

the FDCs meet the criteria of a rational 

and safe FDC. The people of India have 

been made the consumers of unsafe 

medicines for too long and this is 

one step towards rectifying the grave 

situation of a pharma market brimming 

with innumerable irrational FDCs,” said 

AIDAN. 

Under section 26 A of the Drugs 

and Cosmetics Act 1940, the Health 

Ministry had banned the manufacture, 

sale and distribution of 344 FDCs for 

human use in March 2016. Later five 

more FDCs were added to the list. The 

health ministry banned these FDCs 

after an expert committee headed by 

Prof CK Kokate declared them unsafe. 

However, many affected manufactures 

contested the ban in Supreme Court 

and various high courts. The ministry 

moved the apex court challenging a 

Delhi high court order that quashed 

the ban. AIDAN had also filed a petition 

in the top court against the Delhi high 

court order. 

In December 2017, the Supreme 

Court had asked DTAB, the country’s 

top drug advisory body to review 

manufacture and sale of FDCs. 


BORON+ 

SWEPT BY 

REGULATORY WAVE 

The ban on 328 fixed dose 

combinations will lead to a loss of 

industry revenue amounting to 

₹2500cr 

+ 

CETIRIZINE+ 

CAFFEINE 

+ 

LEVOFL 

DICLO 

NIMES 

OXACIN+ 

FENAC+ 

ULIDE+ 

CEFURO 

LIN 

XIME + 

EZOLID+ 

ZINC+ 

XICAM+ 


slug 

HIGH COURT 

ALLOWS DRUG 

MAKERS TO SELL 

EXISTING STOCK 

OF FDCS 

The Delhi High Court has 

allowed the sale and 

distribution of already 

manufactured stock of the 

328 fixed-dose combination 

(FDC) drugs banned by the 

government on September 7. 

Offering an interim 

relief to ten pharmaceutical 

companies, the Court directed 

the firms to file an affidavit 

with the court indicating 

the ‘batches already 

manufactured’ by them as a 

measure to ensure the quality 

of the drugs. 

The Court further ordered 

that no coercive action 

would be initiated against 

the manufactures, stockists 

as well as dealers of the 

banned FDC drugs, as per 

the court directive which 

allows the sale of FDC drugs 

for the time being. The High 

Court, however, directed 

the companies to stop all 

manufacturing operations 

with regard to the banned 

FDC drugs. 

Subsequent to the apex court direction, 

an expert panel was formed under the 

chairmanship of Dr. Nilima Kshirsagar, 

Professor, Head, Clinical Pharmacology, 

G. S. Medical College, KEM Hospital, to 

review safety, efficacy and therapeutic 

justification of the FDCs. The panel 

recommended ban of these drugs citing 

safety issues and lack of therapeutic 

justification. The board in its report 

concluded that there was no therapeutic 

justification for the ingredients in 328 

FDCs and that these FDCs may involve 

risk to human beings. It recommended 

banning the manufacture, sale or 

distribution of the FDCs in larger public 

interest. But 15 out of 344 FDCs in the 

original list, which were claimed to be 

manufactured prior to September 1988, 

were excluded from the current as the 

Supreme Court had stated that the 

government cannot ban the 15 FDCs on 

the basis of DTAB report. 

Tip of iceberg? 

“When the ban on FDCs was notified, 

pharma companies in court cases 

questioned the locus standi and powers 

of the Central government to ban drugs 

in India. That issue has been settled 

decisively with the recommendations of 

the sub-committee led by Dr. Kshirsagar” 

said AIDAN in its statement. 

AIDAN has also urged the 

government to take swift action on 

the 15 FDCs that were excluded from 

the notification on the basis of safety 

and efficacy considerations. “We note 

however, that the FDCs under scrutiny 

account for approximately Rs. 2,500 

crore in sales and represent only the 

tip of the iceberg. In our estimation, the 

market of unsafe, problematic FDCs in 

India is at least one fourth of the total 

pharma market valued at Rs. 1.3 trillion,” 

it said. 

Meanwhile, another round of legal 

tussle is expected to ensue in the 

coming days with many companies 

approaching courts against the ban. 

The Supreme Court allowed sale of 

Saridon, Dart, a pain killer and Piriton 

Expectorant, which is used for common 

cold, cough and other conditions, in 

September. The apex court’s interim 

order came on petitions filed by 

GlaxoSmithKline, Piramal Healthcare 

and Juggat Pharma. While Saridon is 

manufactured by Piramal Healthcare, 

Piriton is owned by GlaxoSmithKline 

and Dart by Juggat. The court in its 

interim order permitted the companies 

to manufacture and sell the drugs until 

final judgement is passed. Challenging 

the ban, the companies reportedly 

claimed that the only reason given 

in the notification was that FDCs 

had no therapeutic value. In another 

development, Indian pharma major 

Wockhardt approached Delhi High Court 

against the ban as its anti-inflammatory 

drug Ace Proxyvon. According to 

industry sources, more companies are 

expected to approach courts in future 

against the ban. 

Clinicians say that before banning 

the combinations, drug authorities 

should ensure that the individual 

drugs are available in the market. 

Otherwise, it could lead to the shortage 

of some crucial medications. “There 

were occasions where the ban of 

a particular combination drug, for 

example, the drugs containing codeine, 

was banned leading to severe shortage 

of this important medication,’’says Dr 

Vinod B Nair, an otolaryngologist from 

Kochi, adding that “so long as it is 

not going to affect the availability of 

the crucial medications the ban 

wouldn’t make much impact in day to 

day practice.” 


column 

trialomics 

Harnessing AI 

for healthcare 

Artificial intelligence is unlikely to replace doctors, but is 

expected to optimize and improve their medical skills 

DR ARUN BHATT 

Writer is a consultant 

on clinical research & 

development from 

Mumbai. 

arun_dbhatt@hotmail.com 

“I 

believe this artificial intelligence is 

going to be our partner. If we misuse it, 

it will be a risk. If we use it right, it can 

be our partner.” - Masayoshi Son, Japanese 

business magnate. 

Artificial intelligence (AI) is the name 

given to techniques that use software to 

mimic human cognition in the investigation 

of complex health data and information. AI 

is revolutionizing healthcare with its access 

towards a large amount of health data and 

rapid advances in analytical techniques. AI is 

considered augmented intelligence as it can 

help in reducing diagnostic and therapeutic 

errors and provide real-time interpretations 

for health risk signals and health outcome 

prediction. AI systems analyse a variety 

of data – clinical examination, laboratory 

data, diagnostic imaging, genetic testing 

and electrodiagnosis – to improve medical 

decisions. 

AI devices consist of 1) machine learning 

(ML) techniques and 2) natural language 

processing (NLP) methods. ML procedures 

analyse structured medical data - e.g., 

imaging, genetic and electrophysiology, 

to cluster patients’ characteristics or to 

determine the probability of disease 

outcomes. NLP methods evaluate information 

from unstructured data - e.g., clinical case 

notes and medical journals to complement 

and enrich structured health data. 

AI applications have the potential to be 

used in diverse health conditions. However, 

most of the AI research focuses on disease 

areas with high mortality - e.g., cancer, 

nervous system disease or cardiovascular 

disease. AI systems have been used for 

diagnosis of skin cancer from clinical 

images, diagnosis of cardiac disease using 

cardiac images, to restore the control of 

movements in patients with quadriplegia, 

early detection of Alzheimer’s disease, early 

stroke prediction by employing a movementdetecting 

device and predicting and analysing 

the performance of stroke treatment. AI 

has also been utilized to detect congenital 

cataract disease using ocular image data and 

diagnose diabetic retinopathy through retinal 

fundus photographs. The accuracy, specificity 

and sensitivity of AI diagnostic systems are 

high and superior to those of experienced 

physicians. However, AI is still in the early 

stages of research and adoption in medical 

care. Besides, its real-life implementation is 

facing regulatory challenges. 

AI pose a new challenge for physicians, 

some of whom are concerned that this 

advanced technology will replace them. But 

the fears seem unfounded. AI is unlikely 

to replace the doctors but is expected to 

optimize and improve their medical skills. 

Dr Abraham Verghese, a well-known author 

from Stanford University, opined that “the two 

cultures – computer and physician – must 

work together (JAMA Jan 2, 2018).” AI has 

the potential to reduce tedious administrative 

tasks, handle large volumes of medical 

data and information, and provides an 

opportunity to integrate the expertise 

of medical practitioners and intelligent 

automation. 

AI is called the stethoscope of the 21st 

century, says Dr Bertalan Meskó. The techsavvy 

physician of the 21stcentury should not 

fear AI tools, but should be ready to harness 

benefits of augmented intelligence in her 

practice. 


straight talk 

“INDIA WILL SOON MAKE THAT 

BIG REVOLUTION OF CHEAPER 

ROBOTIC SURGERY” 

One of the major breakthroughs 

in the area of gynaecological 

endoscopy that the world is now 

waiting for is cheaper robotic 

surgery. And, it is shortly expected 

from India, a country that has 

already produced many innovative 

endoscopic devices and is also 

home to many of the the world’s 

most skilled endoscopic surgeons, 

says PROF. LISELOTTE METTLER, 

who is loved and respected as a 

great teacher by most of India’s 

well-reputed endoscopists. 

Prof. Mettler,an Austrian- 

German surgeon specialised 

in endocrinology, reproductive 

medicine, gynaecological 

endoscopyand gynaecological 

oncology, is a professor emeritus 

of the Department of Gynaecology 

and Obstetrics at Kiel University, 

Germany. Mettler, who conducted 

one of India’s first endoscopic 

surgeries at Mumbai’s Breach 

Candy Hospital in 1973 and has 

also authored more than 600 

publications and several books 

on gynaecological endoscopy, 

spoke to C H UNNIKRISHNAN for 

Straight Talk on the sidelines of 

a three-day International Society 

for Gynaecologic Endoscopy 

(ISGE) conference held in Pune in 

September. Edited excerpts: 

You have been very regular to India as many of your 

students successfully practice here and you have also 

conducted several endoscopic surgeries in Indian hospitals. 

What are the key differences that you see in India and the 

West as far as the practice of this speciality is concerned? 

There is not much of difference in both these markets as far 

as the technology and the skill-set of doctors are concerned. 

In the field of endoscopy in particular, the technology 

and procedures are almost the same that Kiel Hospital -- 

Gynaecological Endoscopy Department in the University of 

Kiel,introduced in the early seventies. But, Indian doctors have 

really put more skills into it. I would say Indian doctors are far 

more efficient as they manage complex surgeries here despite 

limited infrastructure and low affordability of patients. Since 

most patients in the West are insured and they don’t have to 

pay out of pocket, costly equipment and advanced procedures 

are easily affordable there. But, the situation in India is different 

and the doctors actually use their capabilities much more 

efficiently to overcome the limited resources. Many of the 

devices that Indian doctors use in endoscopic surgeries today 

are indigenous and very innovative, which have made these 

surgeries cheaper here. 

But, does it make the surgeries poor in quality as well here 

as compared to the West? 

Not at all. You have brilliant doctors in India, who are 

capable of using the limited resources for optimum utility by 

putting their skills in it. The country has technical as well as 

manufacturing talent to innovate products that suit this market 

in terms of cost. The other important fact that I would like to 

add here is that many brilliant doctors in India are also quite 

passionate about the work that they do and they put their 

hundred percent in such surgical procedures. I have seen 

that Indian doctors, who are well-versed with endoscopic 

procedures, have really modified the techniques and modalities 

to make it much easier for the doctor as well as the patient. 

If that is the case, India can very well attract patients from 

even Western countries isn’t it? 

Of course, there have been patients coming from the West 

for such surgeries. I have sent a couple of my own patients 

from Germany to India for gynec-oncology surgeries to a 

hospital in Pune, where one of my old students, who is a 

brilliant endoscopic surgeon, operated on them. I am sure 



healthcare set-ups, except a few centres 

of excellence, are still poor in terms of 

infrastructure and latest technologies, many 

in the private sector are comparatively 

much better now. Indian hospitals in general 

were in a very bad condition as far as 

infrastructure and quality standards were 

concerned earlier. I myself have witnessed 

doctors and other staff eating even in the 

operation theatres and throwing the bones 

on the floor, which is no more the case 

now. Indian hospitals are getting better 

and cleaner, though there is still scope for 

improvement. 

What are the latest breakthroughs in 

endoscopic surgery? 

Thoughthe basic technologies that are 

used in the endoscopic surgery are more or 

less the same today as I mentioned earlier, 

there have been a lot of improvisations and 

modifications that have taken place in the 

I myself have witnessed doctors 

and other staff eating even in the 

operation theatres and throwing 

the bones on the floor, 

which is no more the case now. 

there are all possibilities that patients can come from even 

developed countries to India as the procedures and expertise 

that is available are not less than any other place and there is 

also a significant cost difference as compared to the US and 

Europe. I would say that the cost here would be around one 

tenth of the cost that prevails in those markets. 

How equipped are Indian hospitals as far as quality 

standards and the overall healthcare systems are concerned 

to cater to patients, who are used to an evolved set-up in the 

developed markets? 

Indian hospitals are no more the same as they were in 

the seventies or eighties. Though the public or government 

devices and supportive systems over the 

last few years as medical technology is a 

fast evolving area. While 3D endoscopy and 

robotic surgeries are comparatively later 

breakthroughs, it is still very expensive all 

over the world. This is the same situation 

in India too, though there are only very 

few hospitals that have facilities for robotic 

surgery and 3D endoscopy here at present. 

In this context, one of the most soughtafter 

and shortly expected breakthroughs in 

endoscopy is a robotic surgery developed 

by India using its inherent talent in inventing 

cheaper and better variants of expensive 

products and systems. As far as I know, the 

efforts for developing a cheaper robotic 

surgery in India are at a very advanced stage 

currently, and once it is out in the market, 

it will be a big revolution across the world. 

I am eighty now, and I hope I will see this 

revolution. 


education 

DOCTORS SUE MCI ON NEW TEQ RULES 

Petitioners argue that there was no age limit when they joined 

A 

group of doctors in Tamil Nadu 

has filed a petition in Madras 

High Court challenging the 

maximum age limit of 40 set by the 

Medical Council of India (MCI) 

for the post of senior resident or 

assistant professor in medical 

colleges. In their petition, the doctors 

have requested the court to 

declare the amendment as 

unconstitutional, ultra vires, 

discriminatory and illegal. 

The public interest litigation (PIL), 

which came up for hearing before 

the bench of Justice S. Manikumar 

and Justice Subramaniam Prasad, 

was posted for the next hearing on 

September 19 as the MCI sought time 

for filing counter affidavit. 

Last year, MCI had made certain 

changes in Teachers Eligibility 

Qualifications (TEQ) rules. The changes 

include the maximum age limit of 

40 for appointment to the post 

of senior resident with effect from 

June 8, 2017. In their affidavit, the 

petitioners stated that they joined 

for post graduate courses before the 

changes were effected in rules and 

there was no age limit when they 

joined. In November 2017, the state 

government sent a proposal to the 

central government asking it to drop 

the criteria of age limit as it would 

affect medical administration and 

career of the doctors who have joined 

for PG courses. The government has 

also stated that the move will prove 

counterproductive. 

Subsequent to the notification, MCI 

clarified that amendments would be 

applicable prospectively from the date 

of notification and will not have any 

effect on appointments or promotions 

made before the date of notification. 

Therefore, residents already working 

on the post of senior resident after 

passing DNB or Diploma Course can 

continue to hold the same post. It 

has further clarified that those who 

are doing post graduation after the 

age of 40 years will not be eligible 

for the post of Senior Resident and 

MCI CLARIFIED THAT 

AMENDMENTS WOULD 

BE APPLICABLE 

PROSPECTIVELY FROM THE 

DATE OF NOTIFICATION. 

they cannot be appointed as Assistant 

Professor directly after PG and 

promoted as Associate Professor after 

gaining five years of experience as 

assistant professor. It further clarified 

that if a person has done DNB from 

MCI recognised institute, then he or 

she will be considered equivalent 

to MD/MS to be eligible as Senior 

Resident. If the person had done 

DNB from institutes not recognised by 

MCI, then he or she has to do three 

years of Junior Residency in 

the concerned subject from MCI 

approved institute to be eligible to 

become SR. 

MCI later clarified that a candidate 

having MBBS and DLO (ENT) 

qualification has worked as JR for 

a period of one year in ENT after 

PG would require MD degree in the 

subject concerned. Thereafter one-year 

senior residency is mandatory for the 

post Assistant Professor 

in the subject concerned. It has also 

clarified that requirement of one 

year senior residency for the post of 

assistant professor is applicable 

only to those disciplines where posts 

of senior residents is prescribed 

as per the minimum standard 

requirement of MCI. 


case reports 

HOW SHE REGAINED 

HER LOST TASTE 

A new lease of life to a 70-year-old lady crippled by multiple progressive 

heart disorders —thanks to TAVR 

DR ANOOP AGRAWAL 

Mrs. Sharma (name changed) couldn’t taste her food 

anymore. “Just like my hair, my tastebuds are also 

aging,” she thought. Mrs. Sharma, at 70 years of age, 

had been a well-kept lady until the previous year. She had 

enjoyed a healthy, active lifestyle in her youth and adulthood. 

With an academic bend of mind, she used to teach until her 

early 60s. At around 61 years of age, she was diagnosed with 

a bicuspid aortic valve (BAV) that had led to severe aortic 

stenosis (AS), and was advised 

to undergo surgical aortic 

valve replacement (SAVR). 

Overwhelmed by the flow 

of information, Mrs. Sharma 

ended up refusing surgery 

at the time. Over the next 

few years, she continued to 

function independently and 

forgot about the deformed 

valve sitting in her heart. 

Last year, she started 

noticing exertional shortness 

of breath upon walking a few 

hundred meters. Over the 

ON THE TOP OF SEVERE 

AS, SHE HAD DEVELOPED 

SEVERE AORTIC 

REGURGITATION, SEVERE 

MITRAL REGURGITATION 

AND SEVERE LEFT 

VENTRICULAR SYSTOLIC 

DYSFUNCTION. 

next few months, she slowed down her life to compensate 

for her exertional symptoms. Slowly, she started developing 

dyspnea on walking within her house. She lost interest in 

her food. Her sleep was interrupted with frequent episodes 

of breathing difficulty. By the time she touched 70, she had 

lost almost 9 kg over a period of six months due to early 

satiety and ageusia. She was restricted to her room due to 

her inability to walk longer distances. Lately, she also started 

fainting at home, only to regain her senses after a minute 

or two. It was so frequent that it almost became routine for 

her and her family. She did seek medical attention for her 

progressive illness and came up with unanimous feedback: 

“She needed SAVR, but the risk was too high.” Not ready to 

undergo a surgery risking her life, she decided to continue 

with medicines alone, which obviously 

weren’t working. 

Sometime during this hustle, she was 

referred to me for further evaluation. What 

I saw was a thin, frail lady who had to take 

periodic pauses in between her sentences to 

catch her breath. Even before taking a look 

at her medical records, I knew that patients 

with that degree of cardiac cachexia rarely 

do well with heart surgery. Her medical 

records made me concerned. On the top of 

severe AS, she had developed severe aortic 

regurgitation, severe mitral regurgitation and 

severe left ventricular systolic dysfunction. 

Essentially, the blood in her heart was flowing 

the wrong way. I voiced my concerns to Mrs. 

Sharma and her family regarding the gravity 

of the situation and that there wasn’t an 

easy way out, with or without surgery. I asked 

her about her goals in life. “I want to get 

back to shopping,” she replied without any 

hesitation. We discussed at length about her 

options, what we can do without imposing 

a significant procedural risk on her. We 

discussed about transcatheter aortic valve 

replacement (TAVR). 

TAVR is a procedure where a 

bioprosthetic valve is crimped and loaded 

on to a catheter, inserted through groin in 

a minimally invasive fashion, and implanted 

in place of the diseased aortic valve. TAVR 

is approved for patients with severe AS 

who are considered higher risk for SAVR. 

We discussed Mrs. Sharma’s case with 

cardiothoracic surgeons for her eligibility 

for surgery. After the surgeons deemed 

her very high risk for surgery, we opted for 

TAVR, knowing that TAVR will only address 

problems related to the aortic valve. This was 

nonetheless her best chance. 


After essential investigations, she underwent successful 

TAVR without any complications. The procedure was 

performed in the cardiac catheterization laboratory in a 

complete sutureless fashion. She was extubated immediately 

after the procedure, was able to talk and eat food that 

evening. The major hurdle was over and she recovered in 

a predictable fashion. She was transferred to the room on 

the third day, was discharged home on day 4. Her postprocedural 

events were nothing short of magical. She was 

able to hold long conversations on the 

evening of the procedure itself. The ability 

to talk was a luxury to her and she wanted 

to talk just about anything. That night she 

slept lying flat on the bed without gasping 

for breath, something she couldn’t do for 

the past one year. Next day, she finished 

her entire meal for the first time in months. 

On the third day, she reached out for the 

television remote and watched a random 

show for more than 30 minutes. Her son was 

amazed at her behaviour as previously she 

would get fatigued at home just by watching 

television for less than 10 minutes. She 

climbed the stairs up one floor for the first 

time in more than three years. On her follow 

up in the out-patient clinic after a few weeks, 

she reported that she had gained almost 3 

kg weight by virtue of being able to eat. Her 

taste buds were back, which added pleasure 

to what she was eating. And yes, she was 

back shopping. 

TAVR is the most disruptive medical 

innovation that modern medicine has seen 

in the past decade. Life-changing outcomes, 

as seen in this case, are not exclusive to Mrs. 

Sharma. The majority of the patients with 

severe AS who have high surgical risk can be 

expected to have a similar outcome. TAVR 

has evolved into both a bail-out strategy in 

otherwise extreme surgical risk patients, as 

well as first-line therapy for patients with 

intermediate surgical risk profile. 

The author is Consultant, 

Interventional Cardiology, 

CARE Hospitals, Banjara 

Hills, Hyderabad 


case reports 

A BOON OR BANE? 

Prenatal diagnosis can help parents make a choice about the foetus in a manner 

that is more acceptable - emotionally and rationally 

Prenatal testing and its perceived benefits have been 

in focus for a long time. There has been widespread 

debate and passionate arguments on both sides. In 

India, where the law allows termination of pregnancy before 

20 weeks, there are several prenatal tests that are available 

only after 20 weeks. This dichotomy produces considerable 

anxiety and stress to would-be parents who may need 

such information within the legal timeline for pregnancy 

termination. 

Here is a success story in which prenatal tests were able 

to relieve the parents of their stress and sleepless nights. 

Maya (name changed) was extremely excited at being 

pregnant and was looking 

forward to a healthy baby. 

However, the 12-week routine 

sonography was about to 

WHILE THE AMBIGUITY IN 

change her perspective on 

the pregnancy. Ultrasound REGULAR SONOGRAPHY 

imaging identified a small FINDING WAS THE REASON 

dorso-lumbar swelling in the FOR MANY SLEEPLESS 

foetus. The doctors treating NIGHTS, AN IN-DEPTH 

her, in her rural town of STUDY SUCH AS THE 

Maharashtra, were unable to 

FOETAL MRI WAS ABLE 

provide her further guidance 

and decided to follow-up TO ALLEVIATE HER ANXIETY 

with a sonogram. The 22- AND CONCERNS. 

week sonography confirmed 

the presence of the cyst, 

while the foetus displayed 

normal movement with no other abnormalities detected. 

The swelling could be indicative of either a meningocele or 

meningomyelocele, which are common congenital defects 

caused perhaps due to folic acid deficiency, exposure to 

certain drugs such as antiepileptic valproate, or other illnesses 

such as diabetes. Genetic and environmental components 

may also be involved. In the case of Maya, the cause of the 

swelling was not determined. 

Meningocele is a cystic swelling formed by the protrusion 

of the dura and arachnoid mater without the involvement of 

the spinal cord. Treatment is rather straightforward, involving 

postnatal surgical repair. By contrast, meningomyelocele is a 

far more serious condition where, in addition to meningeal 

protrusion, there is the involvement of the spinal cord. 

This results in the weakness of both lower 

limbs, bowel and bladder incontinence 

and ultimately, a wheelchair-bound life. 

Hydrocephalus is another associated 

condition with meningomyelocele that 

involves the enlargement of brain cavities 

due to fluid accumulation, resulting in 

cognitive dysfunction, papilledema, optic 

atrophy and blindness. Though shunt 

placement surgery alleviates symptoms of 

hydrocephalus, the procedure comes with its 

own set of neurosurgical complications. Thus, 

the prognosis for a meningomyelocele is far 

worse compared to meningocele. 

In the case of Maya, since sonography 

could not help in differentiating the type of 

lesion in the foetus, the patient was referred 

to Mumbai to a leading gynecologist and 

obstetrician, Dr. Nikhil Dattar, who further 

referred Maya to a paediatric neurologist, Dr. 

K. N. Shah, to advice on the prognosis of the 

foetus. A foetal MRI was done as a further 

diagnostic test. The MRI confirmed that there 

was no hydrocephalus, and the condition 

was diagnosed to be meningocele. Based on 

these results, Maya was advised to continue 

with the pregnancy and then consult a 

neurosurgeon for surgical removal of the cyst 

postnatally. 

The foetal MRI turned out to be a boon 

for the patient. While the ambiguity in 

regular sonography finding was the reason 

for many sleepless nights for Maya and her 

family, a more robust and in-depth study 

such as the foetal MRI was able 

to alleviate her anxiety and 

concerns. “The parents are 

extremely relieved and 

very happy that 

their unborn 

foetus 


has a good prognosis and the condition is treatable 

by postnatal surgery. They are tremendously 

thankful for the advances in prenatal testing and 

the closure they have received,” says Dr. Shah. 

The outcome for Maya was good. However, had 

the foetal MRI indicated a meningomyelocele 

as the diagnosis, this narrative would have 

been entirely different. The parents would 

have had to undergo counselling and 

would need to consider aborting the 

foetus. Indian laws dictate that 

pregnancies beyond 20 weeks 

cannot be legally aborted. 

Since the pregnancy had already run into the 

23rdweek at the time of the foetal MRI, this 

case would have needed to be considered 

by the Supreme Court. In recent past, the 

Supreme Court has been lenient in granting 

permission for late abortions for mothers 

who request them in the light of poor 

prognosis for their foetus. Specially, Dr. Nikhil 

Dattar has been instrumental in highlighting 

such cases and has been successful in 

helping parents in their cause. Prenatal 

testing can be a boon not only to alleviate 

anxiety, but also in helping parents make a 

choice about the foetus in a manner that 

would be more mentally, emotionally and 

rationally acceptable. 

DR SHIVANEE SHAH 


case reports 

SLEEP-ONSET SEIZURE 

Here is a case of long QT syndrome which manifested as a seizure-like activity 

while falling asleep 

Genetic testing can go a long way in determining the 

treatment and outcome of a disease in a patient. Here 

is a case of a 19-year old girl who presented with a 

history of seizures at the neurological department at Amrita 

Hospital, Kochi, but turned out to have a heart condition. 

Genetic testing helped identify the exact mutations which 

dictated her treatment modality. 

This patient had a history of seizures, where during 

each episode she was reported to become unresponsive 

with seizure-like activity while falling asleep. These episodes 

were short lived; during her 

first attack, she was only 

unresponsive for a brief period, 

and did not receive any ABOUT 75% OF THE 

medical attention. However, 

INHERITED LONG QT 

during her subsequent 

episodes, she had up-rolling SYNDROME IS CAUSED DUE 

of eyeballs along with TO MUTATIONS IN 3 ION 

unresponsiveness and was CHANNEL PROTEINS THAT 

brought to the hospital. CAN RESULT IN ONE OF 

Brain CT was normal, and THREE TYPES OF LONG QT 

she was diagnosed with 

SYNDROME — TYPE 1, 2 OR 3. 

epilepsy. She was started 

on sodium valproate as the 

anti-epileptic drug, but since 

she also complained of a vague chest pain, she was referred 

to the cardiology department for a consultation. Here she 

underwent an ECG, which showed a prolonged QT interval of 

506 milliseconds (QTc), which is markedly above-normal. The 

working diagnosis was that of ‘long QT syndrome’. 

Long QT syndrome may occur in response to certain 

medications. However, in the majority of the cases, it is an 

inherited autosomal dominant syndrome typically caused 

due to a mutation in one of 17 cardiac ion channel proteins. 

Symptoms include transient loss of consciousness, seizures 

and irregular beating of the heart which prevents circulation 

of blood to the brain and can result in loss of consciousness. 

About 75% of the inherited long QT syndrome is caused due 

to mutations in 3 ion channel proteins that can result in one 

of three types of long QT syndrome — type 1, 2 or 3. Type 

1 (LQ1) is caused due to a disruption of the potassium ion 

channel activity and the consequent disruption of the heart’s 

electrical activity. Arrhythmias in such cases are typically 

triggered due to physical exertion and such episodes tend to 

stop without medical intervention and are 

less likely to be fatal. Type 2 (LQ2) is caused 

due to insufficient potassium ion activity 

in the heart and can be triggered due to 

emotional stress and loud noises. While types 

1 and 2 are due to mutations in potassium 

ion channels, type 3 (LQ3) is due to 

mutations in sodium ion channels and occurs 

due to low levels of sodium flow in the 

heart, leading to arrhythmia. Such episodes 


are typically triggered during sleep or rest and are more 

likely to be fatal. Molecular testing is an important aspect of 

identifying the type of long QT syndrome and can help in 

confirming clinical diagnosis as well as in guiding treatment 

strategy. LQT1 and LQT2 are caused due to mutations in the 

potassium channel genes, KCNQ1and KCNH2, respectively, 

while LQT3 is caused by mutations in a sodium channel gene, 

SCN5A. 

‘For accurate treatment modality, we recommended 

our patient to undergo molecular testing,’ said Dr. Hisham 

Ahamed, Associate Professor in Cardiology, Amrita Institute 

of Medical Sciences and Research, Kochi. Her family agreed, 

and her blood sample was sent to MedGenome Labs, 

Bengaluru, for a cardiac channelopathy panel. This panel 

can identify mutations in cardiac ion channels that may 

result in any abnormal variation in QT interval. The genetic 

panel results showed that the patient had a mutation in 

KCNH2and was therefore diagnosed as having type 2 long 

QT syndrome. 

While type 1 patients show good response to using 

medications such as beta-blockers, type 2 patients generally 

do not respond as well to such treatment and are typically 

advised for implantable devices such as 

an implantable cardioverter defibrillator 

(ICD), if they are considered high-risk. Until 

the patient’s family could agree for such a 

procedure, the patient was started on betablockers, 

since a subset of type 2 patients 

can benefit from such medication as well. 

The beta-blocker therapy has been effective 

thus far for this patient. Two years later, she 

has experienced no further episodes and 

her heart rhythm has returned to normal 

on its own. ‘’Our patient has been fortunate 

that the beta-blocker treatment has worked 

for her, although we would like to see the 

patient follow through on the recommended 

ICD implant,” says Dr. Ahamed. ‘’The lesson 

learnt from this case is that ECG should be 

performed in young individuals with a history 

of seizures to rule out cardiac concerns.” 



case reports 

A LONG-WINDING PATH TO 

SPENCDI 

Many a time, a definitive diagnosis is the result of a difficult trajectory 

A 

one-year-old female child was brought to a tertiary 

case hospital in Mumbai with fever, pallor, and 

conjunctival and intracranial hemorrhage. Blood 

tests revealed low platelet counts and hypothyroidism. 

Bone marrow aspirates indicated the presence of platelet 

precursors, and suggested that the platelets were being 

destroyed. An MRI was also done and showed multifocal 

hemorrhagic areas in the cerebral parenchyma and 

cerebellum. The patient was thought to have immune 

thrombocytopenic purpura (ITP) and was treated with 

packed RBCs, platelets, intravenous immunoglobin 

(IVIg), methylprednisolone and dapsone for ITP, and for 

hypothyroidism with L-thyroxine. Steroids 

and dapsone were tapered and stopped 

after 6 months along with L-thyroxin. The 

patient did well for a few months and then 

returned to the hospital at age 2 with fever, 

cough, cold, and thrombocytopenia. This 

time she was treated with antibiotic therapy, 

oral steroids and dapsone. The patient had a 

3rd admission to the hospital at age 3 with 

purpura and she was started on cyclosporine 

syrup and discharged. This treatment regime 

was effective for a few years. 


However, at age 4, the 

child was brought to Lilawati 

Hospital and Research DURING DISCUSSIONS 

Center, Mumbai, to consult WITH OTHER DOCTORS, SHE 

with Dr. Swati Kanakia, a REALIZED THAT PERHAPS 

pediatric hemato-oncologist. 

HER CHOICE OF KEYWORDS 

The patient presented with 

WAS NOT CORRECT. 

bleeding in the skin, another 

intracranial hemorrhage, 

and low platelet count. An 

MRI showed calcification in 

the basal ganglia and evidence of the previous intracranial 

bleeding. Based on the history, the patient was started on 

IVIg for treating low platelets. Further, even though normally 

platelets are not given as therapy in such cases as they 

would be expected to be destroyed in the body, this patient 

was again given platelets as well because of the intracranial 

hemorrhage, and started with cyclosporine syrup. 

In addition, Dr. Kanakia observed certain morphological 

abnormalities including short stature, high arched palate, 

low set ears, and wider wrists than normal. Wider wrists are 

typical signs of rickets and an X-ray of the wrist was done 

which indeed showed typical signs of rickets. Blood tests 

for vitamin D, calcium, and phosphorous however did not 

corroborate with the clinical findings for rickets. 

This was indeed an atypical case where the patient 

had an early onset of ITP, was not responsive to treatment 

over long periods of time, had two intracranial hemorrhages, 

calcification of basal ganglia and showed signs of 

abnormal facies. In addition to these, she was strongly 

positive for alloantibodies against red blood cells as 

evidenced in a direct Coomb’s test and thyroid antibodies 

causing hypothyroidism. Such autoantibodies are 

evidence of autoimmunity. Dr. Kanakia was not satisfied 

with the diagnosis and treatment being offered to the 

patient, and continued to search for a more accurate 

diagnosis and better treatment options. She searched the 

OMiM database for other similar cases, but was not able to 

come up with anything similar. During discussions with other 

doctors, she realized that perhaps her choice of keywords 

was not correct. She was including the 

keyword ‘rickets’ due to the wider wrists 

that are characteristic of rickets. However, 

once she replaced ‘rickets’ with ‘metaphyseal 

dysplasia’, she was able to find a very similar 

condition called spondyloenchondrodysplasia 

with immune dysregulation (SPENCDI). 

As per the description, ‘SPENCDI is an 

immunoosseous dysplasia combining the 

typical metaphyseal and vertebral bone 

lesions of spondyloenchondrodysplasia 

(SPENCD) with immune dysfunction and 

neurologic involvement’ The patient’s 

condition seemed to fit well with the 

description. 

SPENCDI is caused by a homozygous 

mutation in the APC5gene on chromosome 

19p13. Genetic testing was carried out, and 

consistent with the clinical symptoms, the 

patient was found to carry a homozygous 

deletion in the APC gene that results in a 

truncated protein. The patient’s parents also 

underwent genetic testing, and they were 

found to carry the heterozygous mutations. 

Based on this genetic identification, the 

patient had a confirmed diagnosis of 

SPENCDI and was accordingly continued on 

cyclosporine. The dosage of cyclosporine 

was kept at a minimum dose just to maintain 

the platelet levels at a safe count of 30,000- 

40,000/uL. The patient is doing well as of 

now. 

The genetic identification was not only 

important for adequate treatment and 

management of the patient, but would also 

be important in case the parents decided to 

have another child. Prenatal testing can be 

used to determine whether the child would 

be homozygous or heterozygous, allowing 

for the option to terminate the pregnancy if 

required. Such prenatal testing may therefore 

prevent another child with the same genetic 

disorder. Genetic testing can also be done for 

close family members to assess hereditary 

mutations. 

“Accurate diagnosis gives the patient/ 

patient’s family a sense of closure and helps 

them prepare for their next child. Even in 

this age of technological advances, clinical 

judgement is extremely important. To be 

able to diagnose accurately, it is important to 

understand which tests to run,” Dr. Kanakia 

shares her learnings from this case. 



case reports 

EXON SKIPPING FOR DMD 

Treatment for muscle dystrophy can vary depending on the type. 

But it is crucial to carry out a differential diagnosis by genetic testing 

Muscular dystrophy is group of muscle disorders 

characterized by progressive muscle weakness, 

with Duchenne Muscular Dystrophy (DMD) being 

the most common. DMD is an X-linked recessive disorder 

primarily affecting males, with women being carriers. DMD 

is characterized by initial proximal muscle weakness of the 

pelvic girdle that eventually progresses to the shoulder 

girdle muscles. The onset of symptoms typically occurs 

between 3 to 5 years of age and by the age of 13-15 years, 

the child is generally wheelchair-bound. DMD is caused due 

to mutations in the dystrophingene which lies on the short 

arm of the X-chromosome (Xp21.2). The dystrophingene 

encodes the protein dystrophin, which plays a key role in 

maintaining the integrity of the cell membrane of skeletal 

and cardiac muscle cells. In the absence of dystrophin, 

muscle fibres disintegrate, 

resulting in the muscle 

weakness observed in DMD. 

One such nine-anda-half-year-old 

boy was 

brought to consult Dr. K. N. 

Shah at Lilawati Hospital 

and Research Centre, 

Mumbai. His previous history 

revealed that he was born 

to parents from a nonconsanguineous 

marriage 

and had one female sibling. 

DYSTROPHIN GENE IS 

ONE OF THE LARGEST 

KNOWN GENES, CONSISTING 

OF 79 EXONS, MANY OF 

WHICH ARE REPEATING 

SEGMENTS. 

He was born via a normal, full-term pregnancy, and showed 

normal milestones up to 2 years of age. However, after two 

years, his parents noticed that his walking was delayed, 

though his social and cognitive milestones were normal. It 

was also reported that he was unable to climb stairs and 

his calf muscles had begun show pseudohypertrophy. As 

his condition slowly progressed, he was unable to get up 

from a sitting position without additional support to his 

knees, an observation that is commonly called the Gower’s 

sign and is classically observed in DMD children. Creatinine 

phosphokinase (CPK) levels, a marker of muscle injury, are 

consistently elevated in patients with Duchenne’s and even 

this child had a very high level (20,000 U/L) of CPK, strongly 

indicative of muscle dystrophy. However, Dr. Shah also 

cautions that elevated CPK levels cannot specifically confirm 

a diagnosis of DMD, since it is simply an indicator of muscle 

damage, and not indicative of DMD specifically. 

While the gold standard of diagnosis 

for DMD is muscle biopsy followed by 

immunohistochemistry or western blot 

for dystrophin protein, new technological 

advances involve diagnosis via genetic 

testing. To appreciate how genetic testing 

can help diagnose DMD, it is first important 

to understand the dystrophingene at the 

genetic level and the types of mutations 

that have been identified in the recent 

past. Dystrophin gene is one of the largest 

known genes, consisting of 79 exons, many 

of which are repeating segments. Typically, 

mutations in this gene are either deletions 

or duplications of single or multiple exons. 

A deletion or duplication of an exon can 

result in a change wherein dystrophin 

cannot be expressed at all. Such a mutation 

is called an ‘out-of-frame’ mutation. 

Alternatively, in some instances, even 

though some exons maybe deleted 

or duplicated, the protein may still be 

expressed, albeit one that is not as effective 

as the wild-type one. Such mutations are 

called ‘in-frame’ deletions. Thus, the type of 

mutation can determine quantitative as well 

as qualitative changes in the expression of 

the dystrophin protein, resulting in different 

disorders. For instance, if the mutation 

results in the deletion of an exon due to 

which dystrophin cannot be expressed at 

all, the resulting dystrophy is DMD. However, 

if the mutation results in an exon being 

deleted, despite which dystrophin can be 

formed, then the resulting dystrophy is 

a milder version called Becker muscular 

dystrophy or BMD. 

Since the progression of BMD is much 

slower than in DMD, and the treatment 

and management can vary depending on 

the particular muscle dystrophy, it is often 

critical to carry out a differential diagnosis 

by genetic testing. 

Multiplex Ligation-Dependent Probe 

Amplification (MLPA) is a commonly 


employed genetic detection 

test, which can detect up to 

70% of DMD positive cases. EXON SKIPPING IS A 

In the event of a negative MUTATION-SPECIFIC 

MLPA result, clinicians THERAPY IN WHICH A 

still have the option of 

SMALL PIECE OF DNA CAN 

confirming the disease using 

BE INTRODUCED SUCH 

next generation sequencing, 

which can pick up about THAT IT WILL BIND TO A 

98-99% of the positive PARTICULAR EXON. 

cases. However, muscle 

biopsy still remains the 

final confirmatory test. In 

this case, Dr. Shah proposed that MLPA be done, and the 

results revealed that exon 43 was deleted, which confirmed 

the clinical diagnosis of DMD. Genetic counselling would be 

important in case the parents wish to have another child, 

since prenatal genetic testing via MLPA at early stages of 

pregnancy can help determine whether the male child 

would have DMD. The prenatal tests can also help parents 

decide whether they should terminate such a pregnancy. 

Further, the parents of the boy were advised to get his sister 

also genetically tested to determine if she was a carrier for 

DMD mutation. 

While currently there is no known cure for DMD, there is 

hope for the future. Several research studies 

have been carried out for different genetic 

therapy approaches. Exon skipping is a 

mutation-specific therapy in which a small 

piece of DNA can be introduced such that it 

will bind to a particular exon and encourage 

the cell to skip reading that exon, thereby 

effectively converting an out-of-frame 

mutation to an in-frame mutation. Such 

a therapy would allow DMD-type clinical 

conditions to mimic BMD-type clinical 

conditions, which are far more manageable 

and have better prognosis. However, till 

date, only a few specific therapies are 

approved. For Dr. Shah’s patient, there is no 

therapy for a deletion of exon 43. The only 

US FDA approved therapy is for deletions 

that can be corrected by skipping exon 51, 

involved in about 13-20% of DMD cases. 

However, research is ongoing, and it is likely 

that other, newer exon-skipping targets 

become available in the future. 



esearch snippets 

Grass pollen exposure in utero shows possible risk 

recent study provides new 

A insights into the effect of grass 

pollen exposure, at birth and shortly 

after, being responsible for possible 

allergic respiratory diseases. Three 

birth cohort studies based in 

Australia, Denmark and Germany 

conducted by Susanto et al,from 

La Trobe University, analyzed the 

umbilical cord blood collected from 

hundreds of babies born during and 

soon after peak grass pollen season. 

Immunoglobulin E (IgE), which is 

used as a marker to predict the 

development of allergic diseases, 

were found to be higher in cord 

blood of babies born during grass 

pollen seasonsin cities from both 

hemispheres. But increased pollen 

loads in the environment during 

the entire pregnancy appeared 

protective, which indicates possible 

development of a sensitization 

barrier. Thus, the study focused 

on the effect of pollen exposure 

in utero, which was previously a 

mere suspected concept relating 

to respiratory disorders. The 

researchers also stressed the fact 

that not all babies born during the 

high pollen seasons developed 

respiratory diseases or other 

allergies. They also emphasized the 

need for more research to be done, 

though the current study helps 

predict and manage diseases like 

asthma which are relevant public 

health burden. 

Source: https://www.sciencedirect.com/ 

science/article/pii/S0160412017320469 

Scientists find more 

than 500 new genes 

allied to BP 

recent study unveils new gene 

A areas conferring blood pressure 

traits, helping understand the biological 

pathway for blood pressure regulation 

and thereby controlling the major 

risk factors like heart attack or stroke 

associated with it. The study was 

conducted by a group of researchers 

from Queen Mary University of London 

(QMUL) and Imperial College London. 

The researchers analyzed DNA of more 

than 1 million people, which revealed 

535 new genetic loci linked with 

blood pressure traits. The scientists 

found that all of the genetic variants 

identified were shown to increase a 

person’s risk of high blood pressure 

by 3.34 times, and that people in the 

higher genetic risk group exhibited a 

1.52 times higher possibility to suffer 

from consequent cardiac diseases. 


The researchers suggest that knowing 

the genes responsible for high blood 

pressure may help us to spot the 

people who are at risk before the 

damage is done, so that they can be 

prognosticated earlier and therefore 

can be administered for implementing 

a healthy lifestyle to prevent the 

adverse consequences. The study 

also indicates potential new targets 

for drug development, suggesting 

that some drugs like canagliflozin 

prescribed for other diseases like type- 

2 diabetes could be repurposed for 

treating hypertension due to similar 

gene regions targeted by the drug. 

The identification of a new biological 

pathway for blood pressure regulation 

therefore potentiates improved 

cardiovascular disease prevention in 

future. The study reports to be the 

largest genetic association study of 

blood pressure traits to date. 

Source: https://www.sciencedaily.com/ 

releases/2018/09/180917111619.htm 

“Lab-in-a-drop” tech: 

Way to detect deadly 

diseases from home 

A 

new medical breakthrough, 

which could diagnose millions 

via a completely portable home 

kit, has been designed to detect 

how likely a person is to suffer from 

grave diseases like cancer and other 

ailments. Xing Technologies Pty 

Ltd developed this nanodiagnostic

technology, claimed to be a game 

changer, which would enable rapid, 

point-of-care diagnosis, screening and 

ongoing monitoring of cancer and 

other diseases like tuberculosis, heart 

diseases, diabetes and Alzheimer’s, 

without requiring access to laboratory 

facilities and highly trained personnel. 

The technology convenes a whole 

laboratory into a single cartridge 

which can perform the tests. Each 

cartridge has a specific application, 

either to diagnose a cancer or an 

infectious disease. A sample of the 

patient’s urine, sputum or blood 

is inserted into the cartridge and 

analysed via its portable reader. 

Results are transmitted to a cloud 

software platform and a report is 

then transmitted back to the doctor, 

nurse or healthcare worker. The kit is 

in insulin resistant adipocyte models 

developed from human mesenchymal 

stem cells (hMSC). The study found 

that overexpression of miR-876-3p 

in insulin resistant cells decreased 

the adiponectin hormone levels, 

which elevated insulin resistance by 

altering specific performed adipokine 

expression. Lentivirus-mediated 

overexpression and suppression 

studies were performed in insulinresistant 

adipocytes differentiated from 

hMSC and high fat-diet fed C57BL/6 

obese mice models to validate the 

findings in vivo, which were shown 

to ameliorate insulin resistance with 

inhibition of miR-876-3p. The study 

provides a new perspective and the 

findings show greater implications 

in the development of therapeutic 

targets for type-2 diabetes. 

Source: Bioscientifica.com 

Journal of Endocrinology (2018) 239, 1–17 https:// 

doi.org/10.1530/JOE-17-0387 

currently designed to be sent to 

third world countries, and communities 

in regional Australia, and promises 

to be a revolutionary, life-saving 

technology. 

Source: https://xingtech.com.au/xing-media/ 

media-releases 

https://www.9news.com.au/videos/ 

cjm8y9sg9000j0goyupfjy9xe/medicalbreakthrough-could-change-diagnosis-process 

miRNA alteration to 

control type-2 diabetes 

Regulation of miRNA becomes a 

potential target for therapeutic 

interventions towards the treatment 

of type-2 diabetes and obesityassociated 

metabolic syndrome. 

miRNA has been increasingly known to 

play an important role in the regulation 

of various cellular and metabolic 

processes. Based on this aspect, a 

team of scientists from CSIR-CDRI, 

Lucknow, CSIR-IHBT, Palampur and 

CSIR-IGIB, New Delhi,investigated the 

effect of altered expression of miRNA 

Targeting senescent cells may promote 

memory restoration 

recent research shows causal 

A link between senescent cells and 

neurodegenerative disease, suggesting 

that targeting the former may provide 

a therapeutic avenue for the treatment 

of these pathologies. Mayo Clinic 

researchers, involving J. Bussian et 

al, found that senescent cells, on 

elimination from naturally aged mice, 

were found to extend their healthy 

life span. These cells accumulate 

with advancing natural age at sites 

related to diseases of aging, including 

osteoarthritis and atherosclerosis; 

and neurodegenerative diseases, 

such as Alzheimer’s and Parkinson’s. 

The researchers used a mouse 

model afflicted with tau-dependent 

neurodegenerative disease, which 

accumulates p16 positive senescent 

cells showing tangles of tau protein 

in neurons. Ablation of these cells 

using genetically modified, INK-ATTAC 

transgenic mice model capable of 

eliminating the senescent cells was 

shown to prevent the neurofibrillary 

tangle deposition and degeneration 

of cortical and hippocampal neurons, 

thus preserving the cognitive functions, 

retaining their memory. Thus the study 

puts forward a best case scenario 

where prevention of brain damage 

was shown to avoid the diseased state. 

Since a different approach is required 

for clinical establishment, scientists 

have started working on models 

to examine the specific molecular 

attenuation that occur in the affected 

cells. 

Source:https://www.nature.com/articles/s41586- 

018-0543-y 

www.sciencedaily.com/ 

releases/2018/09/180919133024.htm 

—Compiled by Divya Choyikutty 


pharma 

UNCERTAIN ABOUT VALSARTAN 

India initiates a probe even as recall of valsartan pills, suspected to be tainted 

with a potential carcinogenic impurity, continues in leading markets 

MANJIT BABU 

In July, India’s drug regulator said the 

agency was starting an investigation 

on all companies importing the active 

pharmaceutical ingredient (API) to make 

heart drug valsartan from Zhejiang 

Huahai Pharmaceuticals of China. This 

unprecedented action by the Drug 

Controller General of India (DCGI) came 

in the wake of a recall of the medicines 

containing valsartan by countries 

including the US and Germany. 

The ongoing probe in the US and 

Europe to check for the presence of a 

potential carcinogen in valsartan has 

put regulators all over the world on high 

alert. Valsartan, a commonly prescribed 

angiotensin-II-receptor antagonist (ARB) 

to manage hypertension, is used for 

heart failure indication as well. 

The DCGI’s announcement prompted 

drug control offices in the country 

to be vigilant on the import of the 

raw materials for the drug. The drug 

regulator said all port offices were asked 

to check the consignments imported 

into the country and conduct tests on 

each batch to address the issue. 

Even as Indian manufacturers Torrent 

Pharmaceuticals and Hetero Drugs 

voluntarily withdrew their valsartan 

drugs from the US market, latest reports 

indicate that India’s Central Drug 

Standard Control Organisation (CDSCO), 

the top regulator’s office, has assured 

that the ingredient that is suspected to 

have the impurity is not present in the 

drugs available in India. 

NDMA: The suspect 

The entire issue came to the fore when 

Prinston Pharmaceuticals, Inc. contacted 

ZHEJIANG HUAHAI HAD 

DETECTED AN IMPURITY 

– A CHEMICAL KNOWN AS 

N-NITROSODIMETHYLAMINE 

(NDMA) — IN THE 

VALSARTAN API. 

the USFDA’s Center for Drug Evaluation 

and Research (CDER) about 

some of its products containing 

valsartan API manufactured by 

Zhejiang Huahai Pharmaceutical 

Co. (ZHP), on 19th June, 2018. 

Prinston informed CDER that 

they had stopped making valsartan 

products because ZHP had detected 

an impurity – a chemical known as 

N-nitrosodimethylamine (NDMA) -- in 

the API. NDMA is a probable cancercausing 

chemical found in trace 

amounts in water and some foods. The 

levels of NDMA in ZHP’s valsartan API, 

though only in trace amounts, were 

unacceptable. 

“Although the risk to patients 

taking the affected products is 

extremely low, we take matters of 

pharmaceutical quality very seriously. 

We took immediate steps to address 

these findings,” said a statement from 

FDA Commissioner Scott Gottlieb, M.D., 

and Janet Woodcock, M.D., director 

of the Center for Drug Evaluation and 

Research, on FDA’s ongoing investigation 

into valsartan impurities and recalls. 

The US drug regulator is closely 

coordinating with the European 


Medicines Agency (EMA), European 

Directorate for the Quality of Medicines 

(EDQM), Regulatory Operations and 

Regions Branch and Therapeutic 

Products Directorate of Health Canada, 

and the Pharmaceuticals and Medical 

Devices Agency (PMDA) in Japan, 

sharing the developments on the 

investigation. 

International regulators have since 

identified another API manufacturer, 

Zhejiang Tianyu Pharmaceutical Co., with 

NDMA in its valsartan API. The USFDA 

said that no valsartan products in the US 

market use this API. 

The FDA estimates that if 8,000 

people took the highest valsartan 

dose (320 mg) from NDMA-affected 

medicines daily for four years (the 

amount of time it believes the affected 

products have been on the U.S. market), 

there may be one additional case of 

cancer over the lifetimes of these 8,000 

people beyond the average cancer rate 

among Americans. 

“This estimate represented the 

highest possible level of NDMA 

exposure. It was a measure of the risk 

under the most extreme circumstances. 

Most patients who were exposed to the 

impurity through the use of valsartan 

received less exposure than this worstcase 

scenario,” it said. 

Difficult to determine 

NDMA’s properties make it difficult to 

find. To determine if valsartan products 

do contain this impurity, CDER’s 

scientists have developed the gas 

chromatography-mass spectrometry 

(GC/MS) headspace testing method. 

It has posted this method to the web 

to help manufacturers and regulators 

detect NDMA in valsartan API and 

tablets. 

“Specifically, a combination of 

conditions, which include certain 

chemicals, processing conditions and 

production steps, could lead to the 

formation of the NDMA impurity. We 

believe that these risks are introduced 

through a specific sequence of 

steps in the manufacturing process, 

where certain chemical reactions are 

needed to form the active ingredient. 

Before we undertook this analysis, 

USFDA finds second impurity 

The US FDA has found an 

additional unexpected impurity 

N-Nitrosodiethylamine (NDEA) in the 

active pharmaceutical ingredient (API) 

valsartan. 

NDEA, a known animal and 

suspected human carcinogen, 

was found in three lots of Torrent 

Pharmaceuticals’ recalled valsartan 

drug products, the USFDA said while 

updating the public on the agency’s 

ongoing investigation surrounding the 

recent voluntary recall of several drug 

products containing valsartan API. 

These Torrent products were included 

in the company’s recall on August 23, 

2018 

Like N-Nitrosodimethylamine 

(NDMA), which was found in the 

recalled valsartan products, NDEA is 

also formed from a specific sequence 

IF 8,000 PEOPLE TOOK THE 

HIGHEST VALSARTAN DOSE 

(320 MG) FROM NDMA- 

AFFECTED MEDICINES DAILY 

FOR FOUR YEARS, THERE 

MAY BE ONE ADDITIONAL 

CASE OF CANCER OVER 

THEIR LIFETIMES, 

THE FDA ESTIMATES. 

neither regulators nor industry fully 

understood how NDMA could form 

during this process,” said the FDA 

officials. 

The US drug watchdog has been 

conducting a review of ARBs from 

2010, according to the documents. In 

light of the valsartan issue, the FDA is 

conducting a study on all ARBs to check 

for the presence of NDMA. 

Low risk potential? 

The EMA officials in August said that 

the NDMA levels detected in batches of 

valsartan from Zhejiang Tianyu are much 

lower than the levels seen in the active 

substance from Zhejiang Huahai, which 

of manufacturing steps and chemical 

reactions. 

In addition to the FDA’s testing, the 

agency will post a preliminary method 

for detecting NDEA. Manufacturers and 

global regulators can use this method 

to screen other products for the 

potential presence of this impurity. 

triggered a recall of several valsartan 

medicines in July 2018. 

While the DCGI assures that the 

contaminated batches of the ingredient 

has not touched Indian shores, experts 

say that there are alternatives available 

for the drug and that doctors can switch 

to other products in order to avoid any 

possible risk. 

In India, valsartan is available 

as a single drug as well as in fixeddose 

combinations. Patients taking 

this drug should not stop the drug 

without consulting their doctors for 

two reasons: First, not all valsartan 

containing products are recalled and 

second, many equally efficacious 

alternatives to valsartan are available, 

alert experts. "Physicians should take 

caution prescribing drugs containing 

valsartan unless they can confirm that 

the particular API is not sourced from 

the companies mentioned above,'' 

says Dr Anoop Agrawal, Consultant, 

Interventional Cardiology, CARE 

Hospitals, Hyderabad. FDA has listed the 

recalled manufacturers on their website. 

He suggests that in India, authorities 

should aggressively test the available 

drugs for the said impurity and put out 

our own list of recalled and not-recalled 

brands. 


hospital news 

Aster DM partners with 

Nigerian university hospital 

CK Birla Hospitals-CMRI 

conducts sepsis 

programme 

CK Birla Hospitals – Calcutta Medical 

Research Institute (CMRI) conducted 

a comprehensive sepsis management 

programme in Eastern India on the 

occasion of World Sepsis Day. 

Organised in association with the 

Indian Sepsis Forum, Hospital Infection 

Society of India, SEMI WB chapter and 

Indian Society of Critical Care Medicine 

(ISCCM), the initiative enlightened the 

clinicians about the ways to combat 

sepsis in a holistic manner. 

The Basic Sepsis Life Support 

Programme (BSLS), which included an 

in-depth review of sepsis along with its 

management and practical application 

required for dealing with patients 

suffering from sepsis, shared clinical 

knowledge, management guidance and 

organisation skills with doctors, nurses 

and healthcare personnel to improve 

clinical outcome. 

India currently tackles 7,50,000 

cases of sepsis every year, in which the 

mortality rate is 12.08 per cent in ICU 

patients and 59.26 per cent in those 

with critical stage sepsis. More than 

90,000 people die every year in India 

due to sepsis, making it one of the most 

alarming causes of death in the country, 

according to Dr Arindam Kar, director & 

HOD, critical care unit, CK Birla Hospitals 

- CMRI. 

Every year, World Sepsis Day 

is celebrated internationally on 13 

September with awareness campaigns 

to facilitate a more comprehensive 

outlook into the management of sepsis. 

The BSLS programme was one such 

national level initiative which promised to 

mark the beginning of a more inclusive, 

updated and evidence-based approach 

to tackle the severity and life-threatening 

situations caused by sepsis. 

Aster DM Healthcare has entered 

into a partnership agreement 

with Afe Babalola University Ado Ekiti 

(ABUAD), a leading university hospital 

in Nigeria. 

As part of the deal, Aster would 

set up centres of excellence across 

specialties in association with ABUAD 

to address the need gaps in the 

Nigerian healthcare sector. 

Aster Centers of Excellence 

provide quaternary care across various 

specialties such as neuroscience, 

cardiac, orthopaedic and oncology. 

The agreement also aims to build 

a telemedicine unit managed by Aster 

DM Healthcare’s certified specialists 

chosen from Aster’s network of 11 

hospitals in India. 

The telemedicine unit in ABUAD 

BR Life SSNMC Super Speciality 

Hospital, Bengaluru, has joined 

hands with Brains Neurosciences to 

establish a Centre of Excellence (CoE). 

Located at Ideal Homes Layout, 

Rajarajeshwari Nagar, Bengaluru, the 

centre will provide comprehensive 

diagnosis, treatment and rehabilitation 

services for brain and spine related 

problems. 

In addition to this, there will be 

specialty clinics for the management of 

stroke, headache, dementia, epilepsy, 

Parkinson’s and Alzheimer’s. A fully 

equipped neurotrauma center for 

will provide services such as tele 

consulting, tele diagnosis and tele 

management, enabling patients to seek 

expert advice and virtual treatment 

from Aster’s specialists 

from across the world, including in 

India. 

Nigeria spends an average of 

US$ 118 per capita on healthcare. 

In terms of the doctor-patient ratio, 

Nigeria currently has 1:2,500, as 

opposed to a minimum ratio of 1:1000 

recommended by WHO. 

“Our partnership will address 

the gaps in the healthcare sector in 

Nigeria which is in urgent need of 

quality services,'' said Dr Azad Moopen, 

founder chairman and managing 

director of Aster DM Healthcare, in a 

press release. 

BR Life SSNMC and Brains Neuro set up CoE 

trauma and head injury treatment will be 

operational 24x7. 

The CoE has set-up the Brain 

Wellness Clinic to facilitate early 

detection of Alzheimer’s disease. 

Early diagnosis, prevention and 

identification of treatable dementias as 

a therapy goal can help provide effective 

treatment and improve the living 

conditions of the patient, according to Dr 

Venkataramana NK, head, SSNMC-Brains 

Neurosicience Center of Excellence. 

BR Life SSNMC Super Specialty 

Hospital is promoted by Dr BR Shetty, an 

Abu Dhabi-based Indian entrepreneur. 


head&neck cancer 

REVISED AJCC TNM GUIDELINES 

DEPTH OF STAGING 

New recommendations bring fresh concepts into head and neck cancer staging. 

They, however, face certain definitive hurdles in terms of practicality in India 

DR KRISHNAKUMAR THANKAPPAN 

The American Joint Committee on 

Cancer (AJCC), 8th Edition marks 

a major change in the Tumour 

Nodal Metastasis (TNM) staging of 

head‐and‐neck cancers. It introduces 

many new concepts to stage and 

prognosticate patients better, with 

distinct therapeutic implications. 

In oral cancer, it introduces the 

depth of invasion as a determinant of 

T(tumour)‐stage. This standardises the 

staging of oral cancer tumours and 

acknowledges the significance of depth 

of invasion in nodal spread and overall 

survival. It also eliminates “extrinsic 

muscle invasion” from stage T4 for oral 

tongue cancer; this was a constant 

source of confusion since the depth of 

invasion required to involve the extrinsic 

muscles of the tongue was highly 

variable depending on the position of 

the tumour in relation 

to the tongue. Even very superficial 

tumours could invade the extrinsic 

muscles of the tongue. The nodal 

staging recommendations have also 

upstaged extranodal extension, which 

has been shown to be a high‐risk 

adverse feature associated with worse 

survival. 

In oropharyngeal cancer, human 

papillomavirus (HPV) expression of 

tumours has been used to reclassify 

tumours into two separate entities 

with distinct staging systems. For 

HPV‐positive tumours (p16 positive), 

the T‐stage no longer has T4b, or 

very advanced local disease, which 

represents the improved prognosis that 

these patients have when compared 

to their non‐HPV counterparts. For 


HPV‐positive tumours, nodal staging 

has been divided into clinical staging 

and pathological staging for better 

prognostication of HPV‐positive 

diseases treated with surgery. 

In carcinoma of unknown primaries 

with cervical nodal metastasis, 

immunohistochemical staining of 

nodal tissue for HPV and Epstein–Barr 

virus (EBV) has been recommended 

in all cases. This recognizes the high 

incidence of metastasis from an 

HPV‐positive oropharyngeal or an 

EBV‐positive nasopharyngeal primary 

tumour, and the need to standardize 

the diagnostic evaluation in these 

patients to avoid inadequate evaluation 

and inappropriate treatment. 

These recommendations are 

based on high‐quality evidence aimed 

at personalizing cancer therapy to 

optimize outcomes, while minimizing 

morbidity. The practice of oncology in 

India, however, is markedly different 

from that in the western world. 

India spends a small fraction (under 

2%) of its gross domestic product 

on health‐care services, with an 

estimated 65% of all healthcare‐related 

expenditure being spent out‐of‐pocket. 

This results in a clear majority of 

patients with cancer receiving an 

insufficient quality and standard of care. 

This context of resource constraint has 

a significant impact on the practice of 

resource‐heavy medical specialties such 

as oncology, where newer diagnostic 

and therapeutic techniques are often 

ORAL CANCER 

STAGING BY 


New guidelines standardise the staging of 

oral cancer tumours and acknowledges the 

significance of depth of invasion in nodal 

spread and overall survival. 

T4b 

20 and 

more than 

20 

T1 

invasion 

5 mm or 

less 

T3 

more than 

10 and 

less than 

20mm 

T2 

invasion 

6-10 mm

out of reach for many patients in 

developing countries. 

Depth of invasion in oral cancers 

Tumours having a depth of invasion of 

5 mm or less are classified as T1, those 

having a depth of invasion 6–10 mm 

are classified as T2, and those with a 

depth of invasion higher than 10 mm 

and less than 20 mm are classified as 

T3. Tumours more than 20 mm depth 

or crossing the midline are T4b cancers. 

The subjectivity and interobserver 

variability in determining the clinical 

depth of invasion may be challenging. 

For those treated with surgery, the 

measurement of the depth of invasion 

is pathological, where a plumb line is 

dropped from the adjacent mucosa to 

the deepest point of tumour invasion. 

The issue with this parameter, as seen in 

other malignancies, is the interobserver 

variability; studies have shown a variable 

concordance rate among pathologists 

with respect to the depth of invasion. 

A significant number of patients 

with oral cancer in India are 

treated with radiotherapy, either 

as brachytherapy or external beam 

radiotherapy. The measurement of the 

depth of invasion in these patients 

poses a bigger challenge, and there 

is no consensus on radiological 

determination of the depth of invasion 

in oral cancer. 

Nodal staging in 

oropharyngeal cancer 

For HPV‐positive oropharyngeal 

cancer, clinical nodal staging is 

now similar to the nodal staging 

for nasopharyngeal cancer: N1 is 

one or more ipsilateral nodes with 

none >6 cm, N2 is contralateral or 

bilateral lymph nodes with none >6 

cm, and N3 comprises nodal disease 

>6 cm. Pathological staging is N1 

when metastasis occurs to ≤4 lymph 

nodes. N2 is when metastasis occurs 

to >4 lymph nodes. This is meant 

to better prognosticate HPV‐related 

oropharyngeal cancers at two distinct 

points – with a clinical determination 

of staging at presentation, and 

a definitive pathological staging 

following surgery. This is most likely 

CATEGORY 

a reflection of the increasing use of 

transoral robotic surgery (TORS) in the 

treatment of oropharyngeal cancer 

in the United States. Access to TORS, 

however, has been shown to correlate 

with socioeconomic status even in a 

developed country; and the number of 

patients with head‐and‐neck cancer in 

India with access to TORS is minuscule. 

Unknown primary 

CRITERIA 

THE TECHNICAL EXPERTISE 

AND EQUIPMENT REQUIRED 

TO PERFORM ROUTINE 

IMMUNOHISTOCHEMISTRY 

ARE LACKING IN MANY 

CENTRES THAT PROVIDE 

CANCER CARE IN INDIA. 

For patients with squamous cell 

carcinoma demonstrated in cervical 

lymph nodes without any demonstrable 

primary site of malignancy, strong 

recommendations have been 

made regarding the addition of 

immunohistochemistry to the diagnostic 

evaluation. Acknowledging that 

around 90% of all unknown primaries 

are associated with an HPV‐related 

oropharyngeal cancer in the United 

States, the AJCC has recommended 

that HPV in situ hybridization, 

p16 immunohistochemistry, and 

OROPHARYNGEAL CANCER 

NODAL STAGING 

Clinical nodal staging is now recommended 

for HPV-positive oropharyngeal cancer 

N1 N2 N3 

One or more 

ipsilateral lymph 

nodes, none larger 

than 6 cm 

Contralateral or 

bilateral lymph 

nodes, none larger 

than 6 cm 

EBV‐encoded RNA in situ hybridization 

be performed for all unknown primaries 

of the cervical lymph nodes. Whether 

this recommendation is feasible 

in an Indian context is debatable; 

the number of unknown primaries 

associated with HPV in India is likely 

to significantly fewer when compared 

to that of the West. The technical 

expertise and equipment required to 

perform routine immunohistochemistry 

and techniques such as in situ 

hybridization are also lacking in many 

centres that provide cancer care in 

India. 

In short, the new recommendations 

made by the AJCC 8th Edition for the 

treatment of head‐and‐neck cancers 

address many of the shortcomings of 

the previous editions. The majority of 

these recommendations are universal. 

However, some are likely to face hurdles 

in their implementation in India. The 

recommendations represent a step 

toward standardization in radiological 

and pathological reporting. However, 

the degree of compliance that can be 

attained to these recommendations 

remains to be seen. 

The author is Professor, 

Department of Head 

and Neck Surgery and 

Oncology Amrita Institute 

of Medical Sciences, 

Kochi, India 

drkrishnakumart@gmail.com 

Lymph node(s) 

larger than 6 cm 


insurance 

INSURANCE COVER FOR 

INFERTILITY TREATMENT 

Infertility treatment may soon be made part of standard insurance policies 

DR DURU SHAH 

Infertility is fast becoming a huge 

concern in India. With 30 million 

infertile couples currently, it is 

estimated that in the year 2020, 

2,50,000 IVF cycles will be performed 

in the country. Needless to say, the cost 

of infertility treatments too continues 

to rise, making it unaffordable to a 

large number of couples. There is a 

huge need for the government to make 

necessary budgetary provisions and 

insurance companies to cover infertility 

procedures as well. 

The Indian Society for Assisted 

Reproduction (ISAR) had last year 

strongly campaigned with insurance 

companies and the government to make 

necessary provisions to bring infertility 

treatment under insurance cover 

in India. The change has now been 

brought about by the efforts of the Govt 

of India, especially the division heading 

the Ayushman Bharat programme, and 

the Insurance Regulatory Authority of 

India. 

In August 2018, the Insurance and 

Regulatory Authority of India (IRDAI), 

asked for the removal of around 10 

items, including procedures such 

as dental, stem cell, infertility and 

psychiatric treatment, from the list of 

“optional cover” for health insurance. 

This would mean that these procedures 

could be made part of standard 

insurance policies. Some of them 

could even be made mandatory! It is 

heartening to note that infertility has 

been included in this list—the fact that 

the Indian insurance sector will now 

provide insurance cover for infertility 

treatment will definitely make it more 

affordable to the millions of couples 

ISAR HAD LAST YEAR 

STRONGLY CAMPAIGNED 

WITH INSURANCE COMPANIES 

AND THE GOVERNMENT 

TO MAKE NECESSARY 

PROVISIONS TO BRING 

INFERTILITY TREATMENT 

UNDER INSURANCE COVER. 

who need it. 

ISAR had proposed to the Ministry 

of Health and Family Welfare to make 

infertility treatment easier for couples 

seeking treatment for infertility by 

having it covered under their health 

insurance plan. And now, with the 

Ministry of Health considering this 

proposal, the efforts are bearing fruit. 

Research has shown that one 

in every six couples has a problem 

conceiving on their own, which is a 

clear indication of the large number of 

people who need assistance to fulfill 

their need to have children. Very often, 

simple advice or a little help from the 

gynecologists can help them in their 

pursuit of having their own biological 

child. But, occasionally they require 

advanced procedures like IVF, ICSI, egg 

donation, etc. While simpler treatments 

are manageable and affordable 

with every gynecologist, advanced 

procedures need to be undertaken at 

centres that offer assisted reproduction. 

However, the fact is that the cost of IVF 

ranges upwards of ₹1.5 lakh to ₹2 lakh 

per cycle of treatment, mainly because 

the cost of the consumables used for 

IVF and the expenditure involved in 

maintaining a high-quality embryology 

lab are high. Hence, a huge number of 

couples desist from seeking treatment 

or resort to poor-quality care. Infertility 

treatment not only involves expenditure, 

but it also involves a huge amount of 

investment from the couple seeking 

treatment. This includes daily injections, 

the time spent on treatment, giving up 

on their careers due to frequent visits to 

the clinic, financial loss, mental agony, 

and many a times, disappointment 

when the pregnancy test is negative 

after such a long ordeal. 

Their journey while seeking infertility 

treatment will definitely be easier now, 

thanks to IRDAI’s change in policy. We 

will soon begin to see the effect of 

this change in the number of patients 

seeking affordable medical treatment 

for infertility. In addition, if India can 

reduce the dependence on imported 

consumables for infertility procedures by 

manufacturing them, we will be able to 

make IVF much more affordable. 

The author is Director, 

Gynaecworld Center for 

Assisted Reproduction & 

Women’s health 

Panel Consultant – Breach 

Candy Hospital & Jaslok 

Hospital, Mumbai. 


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health care 

INDIA LAUNCHES WORLD’S LARGEST 

PUBLIC FUNDED HEALTHCARE SCHEME 

Industry lauds Ayushman Bharat, but says there are areas that need focus 

India, a country of 1.3 billion people 

with just a fraction of them covered 

under medical insurance, has kickstarted 

the world’s largest public funded 

healthcare programme -- Ayushman 

Bharat - Pradhan Mantry Jan Arogya 

Yojana. The scheme is expected to 

benefit around 10 crore economically 

backward families with an annual 

healthcare coverage of Rs 5 lakh each 

and aims to cover around 550 million 

people across the country. 

As announced on the country’s 

71st Independence Day in August, 

Prime Minister Narendra Modi launched 

the programme on September 23 in 

Jharkhand. Launching the scheme at the 

state capital Ranchi, the Prime Minister 

said: “It is a big step towards providing 

good quality and accessible healthcare 

to the poor of India.” 

As per the nationwide launch plan, 

nearly 31 states and Union Territories 

will implement the programme now. As 

part of the launch, the Prime Minister 

also inaugurated 10 wellness centres in 

Jharkhand. 

“The government is pursuing 

a holistic approach towards the 

betterment of the health sector. As 

it focuses on affordable healthcare 

on one hand, emphasis is also being 

laid on preventive healthcare on the 

other,” Modi said, while launching the 

programme. 

“This is the world’s largest such 

scheme and the number of Ayushman 

THE SCHEME WILL BE 

FUNDED WITH 60% 

CONTRIBUTION COMING 

FROM THE CENTRAL 

GOVERNMENT AND THE 

REMAINING FROM THE 

STATES. 

Bharat beneficiaries is almost equal to 

the population of Canada, Mexico and 

the US put together,” Modi added. 

The scheme became operational on 

September 25 on the birth anniversary 

of Pandit Deendayal Upadhyay and 

will be funded with 60% contribution 

coming from the central government 

and the remaining from the states. Five 

states, including Telangana, Odisha, 

Delhi, Kerala and Punjab, are yet to sign 

the agreement on the scheme with the 

centre. 

Eligible people can avail the benefits 

in government and listed private 

hospitals. The beneficiaries are identified 

based on mainly four “deprivation” 

categories. They need to establish 

their identity to avail benefits under 

the scheme and it could be through 

Aadhaar card or election ID card or 

ration card. 

In case of hospitalisation, members 

of the beneficiary families do not need 

to pay anything, provided they go to a 

government or an empanelled private 

hospital. 

Even as the healthcare industry 

welcomed the historical launch of the 

scheme, it reminded the government 

that there are areas that need to 

be addressed to ensure that such a 

large-scale health-cover programme is 

successfully implemented. 

“On the historic launch of the 

world’s largest health coverage scheme 

- Ayushman Bharat, I feel as happy as I 


did when we launched the first universal 

insurance scheme in my village in the 

year 1999. I am also filled with a sense 

of anticipation on the positive effect 

this scheme will have on the health of 

the 50 crore beneficiaries,”said Pratap 

C Reddy, founder and chairman of the 

country’s largest corporate hospital 

chain, Apollo Hospitals. 

“While we all work together to 

ensure the success of this scheme, 

there are areas that need focus and 

fine tuning. These include ensuring the 

robustness of the IT backbone, weeding 

out potential fraud, ensuring coverage 

to only identified beneficiaries and 

ensuring more adoption by the private 

sector, who are rightly worried about 

the pricing and reimbursements. These 

issues must remain paramount moving 

forward,”he said, adding that he strongly 

believes that the scheme is for the 

greater public good and everyone must 

strive to ensure its success. 

Earlier, after the first announcement 

of the programme in August, Tedros 

Ghebreyesus, Director General of World 

Health Organisation, lauded the initiative 

by the government of India, calling it a 

great commitment. 

However, healthcare industry 

consultants have expressed concerns 

about the lack of clarity in the budgetary 

allocation and the availability of funds. 

There are also concerns about the 

extent of geographical coverage 

and the paucity of accredited hospital 

capacity. 

Mumbai-based healthcare industry 

consultant and Future Medicine 

columnist Muralidharan Nair had 

earlier shared his views saying the 

operational success of the programme 

will be contingent upon customising 

the programme to address the ground 

conditions, which vary significantly from 

state to state and even within the state. 

“This includes the availability of 

IT IS IMPERATIVE THAT A 

COMPLEX PROGRAMME LIKE 

THIS DEPEND HEAVILY ON 

TECHNOLOGY SUPPORT FOR 

EFFECTIVE EXECUTION, BE IT 

FOR PROCESS EFFICIENCY, 

PROCESS INTEGRITY, FRAUD 

PREVENTION ETC. 

relevant human resource, the maturity 

of private providers, public health 

capability, morbidity profile and the 

cost of care. I am certain, the learned 

managers of this programme are fully 

seized of this matter, but I have a few 

other concerns too,” he wrote in a 

previous column. 

It is imperative that a complex 

programme like this depend heavily 

on technology support for effective 

execution, be it for process efficiency, 

process integrity, fraud prevention, 

optimization strategies or customer 

feedback. It is unlikely that the 

technology capabilities will be 

fully deployed before a while, and 

importantly, given the rural reach that 

is planned. Therefore, it is crucial that 

there is a robust plan for the interim and 

a sustainable operational ecosystem for 

carrying out technology operations in 

the future, Nair added. 

The critics of the Central 

programme say that State cooperation 

is important for successfully 

implementing a programme of this 

scale. Since the many of them are 

still not in agreement, it may have a 

negative impact on the nation roll out 

of the programme. 

While Odisha government has 

already rejected the programme 

saying the existing state government 

programme--Biju Swasthya Kalyan 

Yojana covers many more people 

than Ayushman Bharat and provides 

Rs. 7 lakh to women as opposed to 

the central programme’s Rs. 5 lakh, 

the Southern state Kerala was critical 

about the feasibility of the new central 

programme. Delhi and Telengana 

states were also in disagreement with 

Ayushman Bharat. WhileTelangana 

rejected the scheme on the grounds 

that its Aarogyasri scheme covers 70 

per cent of the state’s population while 

the Ayushman Bharat will only benefit 

80 lakh people, Delhi government said 

the central programme’s proposed 

target of 6 lakh families covers just 

3 per cent of its 2-crore population. 

Similarly, the state of Punjab had also 

held certain reservations against new 

health coverage scheme launched by 

the Centre. 


public health 

A QUARTER OF THE WORLD’S 

POPULATION HAS TB: WHO 

Although global efforts have averted an estimated 54 million TB deaths since 

2000, TB remains the world’s deadliest infectious disease 

WHO’s 2018 Global TB Report 

calls for an unprecedented 

mobilization of national and 

international commitments. It urges 

political leaders gathering for the firstever 

United Nations High-level Meeting 

on TB to take decisive action, building on 

recent moves by the leaders of India, the 

Russian Federation, Rwanda, and South 

Africa. Nearly 50 Heads of State and 

Government are expected to attend the 

meeting. 

“We have never seen such high-level 

political attention and understanding 

of what the world needs to do to end 

TB and drug-resistant TB, said Dr.Tedros 

Adhanom Ghebreyesus, WHO Director- 

General. “We must capitalize on this 

new momentum and act together to end 

this terrible disease,” in an official release 

To meet the global target of ending 

TB by 2030, countries need to urgently 

accelerate their response – including by 

GLOBALLY, AN ESTIMATED 

10 MILLION PEOPLE 

DEVELOPED TB IN 2017. THE 

NUMBER OF NEW CASES IS 

FALLING BY 2% PER YEAR. 

increasing domestic and international 

funding to fight the disease. The WHO 

report provides an overview of the status 

of the epidemic and the challenges 

and opportunities countries face in 

responding to it. 

TB epidemic: Falling numbers 

Overall, TB deaths have decreased over 

the past year. In 2017, there were 1.6 

million deaths (including among 300 

000 HIV-positive people). Since 2000, 

a 44% reduction in TB deaths occurred 

among people with HIV compared with 

a 29% decrease among HIV-negative 

people; 

Globally, an estimated 10 million 

people developed TB in 2017. The 

number of new cases is falling by 2% 

per year, although faster reductions have 

occurred in Europe (5% per year) and 

Africa (4% per year) between 2013 and 

2017. 

Some countries are moving faster 

than others - as evidenced in Southern 

Africa, with annual declines (in new 

cases) of 4% to 8% in countries such as 

Lesotho, Eswatini, Namibia, South Africa, 

Zambia, and Zimbabwe, thanks to 

better TB and HIV prevention and care. 

In the Russian Federation, high-level 

political commitment and intensified TB 

efforts have led to more rapid declines 

in cases (5% per year) and deaths (13% 

per year) 

Drug-resistant TB remains a global 

public health crisis: In 2017, 558 

000 people were estimated to have 

developed disease resistant to at least 


ifampicin – the most effective first-line 

TB drug. The vast majority of these 

people had multidrug-resistant TB 

(MDR-TB), that is, combined resistance 

to rifampicin and isoniazid (another key 

first-line TB medicine). 

Under-diagnosis: Big challenge 

Underreporting and under-diagnosis of 

TB cases remains a major challenge. Of 

the 10 million people who fell ill with TB 

in 2017, only 6.4 million were officially 

recorded by national reporting systems, 

leaving 3.6 million people undiagnosed, 

or detected but not reported. Ten 

countries accounted for 80% of this 

gap, with India, Indonesia and Nigeria 

MDR-TB were reported to have received 

treatment with a second-line regimen. 

China and India alone were home to 

40% of patients requiring treatment for 

MDR-TB, but not reported to be receiving 

it. Globally, MDR-TB treatment success 

remains low at 55%, often due to drug 

toxicity making it impossible for patients 

to stay on treatment. A month ago, 

WHO issued a Rapid Communication 

on key changes to treatment of drugresistant 

TB based on the latest scientific 

evidence. These changes should result 

in better treatment outcomes and more 

lives saved. WHO is already working with 

countries and partners to roll out these 

changes. 

to facilitate greater access to preventive 

services for those who need it. 

Insufficient funds 

One of the most urgent challenges is 

to scale up funding, the agency said. 

In 2018, investments in TB prevention 

and care in low- and middle-income 

countries fell US$3.5 billion short of 

what is needed. The report flags that 

without an increase in funding, the 

annual gap will widen to US$ 5.4 billion 

in 2020 and to at least US$ 6.1 billion in 

2022.A further US$ 1.3 billion per year is 

required to accelerate the development 

of new vaccines, diagnostics and 

medicines. 

topping the list. 

Less than half of the estimated one 

million children with TB were reported 

in 2017, making it a much higher gap in 

detection than that in adults. 

Treatment coverage lags behind at 

64% and must increase to at least 90% 

by 2025 to meet the TB targets. 

To urgently improve detection, 

diagnosis and treatment rates, WHO, 

the Stop TB Partnership and the Global 

Fund launched the new initiative in 

2018, Find. Treat. All. #EndTB, which set 

the target of providing quality care to 

40 million people with TB from 2018 to 

2022. 

Only around half of the estimated 

920,000 people with HIV-associated TB 

were reported in 2017. Of these, 84% 

were on antiretroviral therapy. Most of 

the gaps in detection and treatment 

were in the WHO African Region, where 

the burden of HIV-associated TB is 

highest. Only one in four people with 

TREATMENT COVERAGE 

LAGS BEHIND AT 64% AND 

MUST INCREASE TO AT 

LEAST 90% BY 2025 TO 

MEET THE TB TARGETS. 

WHO predicts that at least 30 million 

people should be able to access TB 

preventive treatment between 2018 and 

2022, based on new WHO guidance. 

Although preventive treatment for latent 

TB infection is expanding, most people 

needing it are not yet accessing care. 

WHO strongly recommends preventive 

treatment for people living with HIV, 

and children under 5 years living in 

households with TB. Related new 

guidance was issued by WHO in 2018, 

WHO is guiding national and global 

actions to reach everyone with care, 

including those with TB, through a 

transformative health agenda and push 

towards Universal Health Coverage. This 

includes proactive engagement with 

civil society and other key stakeholders 

to jointly help countries get on track to 

end TB. 

Ending the TB epidemic 

requires action beyond the health 

sector to address the risk factors 

and determinants of the disease. 

Commitments at the level of Heads of 

State will be essential to galvanize multisectoral 

action. 

In June this year, an Interactive Civil 

Society Hearing was organized by the 

Office of the President of the General 

Assembly, with the support of WHO, the 

Stop TB Partnership, civil society, and 

other stakeholders as a key preparatory 

step towards high-level meeting, WHO 

said. 


medico legal 

INDIA RELEASES CHARTER 

OF PATIENT RIGHTS 

The draft charter proposes a multi-tier redressal mechanism for patients. 

India's health ministry has released the draft 

statute of the country’s first ‘charter of patients' 

rights’ to address issues in the healthcare sector. 

Prepared by the National Human Rights 

Commission (NHRC), the draft will act as a guidance 

document for the Union government and state 

governments to formulate concrete mechanisms so 

that patient’s rights are given adequate protection 

and operational mechanisms are set up to make 

these rights functional and enforceable by law. 

RIGHTS OF THE PATIENTS AS PER THE DRAFT PATIENT CHARTER 

RIGHT TO FACTUAL 

INFORMATION 

Every patient has a right 

to adequate relevant 

information about the nature, 

cause of illness, provisional/ 

confirmed diagnosis, 

proposed investigations and 

management, and possible 

complications To be explained 

at their level of understanding 

in a language known to 

them. The treating physician 

has a duty to ensure that 

this information is provided 

in simple and intelligible 

language to the patient to 

be communicated either 

personally by the physician, or 

by means of his / her qualified 

assistants. 

Every patient and his/her 

designated caretaker have the 

right to factual information 

regarding the expected cost of 

treatment based on evidence. 

The hospital management 

has a duty to communicate 

this information in writing 

to the patient and his/her 

designated caretaker. 

RIGHT TO RECORDS 

AND REPORT 

The relatives/caregivers of 

the patient have a right to 

get discharge summary or in 

case of death, death summary 

along with original copies of 

investigations. 


has a duty to provide these 

records and reports and 

to instruct the responsible 

hospital staff to ensure the 

provision of the same are 

strictly followed without fail. 

RIGHT TO EMERGENCY 

MEDICAL CARE 

It is the duty of the hospital 

management to ensure the 

provision of such emergency 

care through its doctors and 

staff, rendered promptly 

without compromising on 

the quality and safety of the 

patients. 

RIGHT TO INFORMED 

CONSENT 

It is the duty of the hospital 

management to ensure that 

all concerned doctors are 

properly instructed to seek 

informed consent, that an 

appropriate policy is adopted 

and that consent forms with 

the protocol for seeking 

informed consent are provided 

for patients in an obligatory 

manner. 

It is the duty of the primary 

treating doctor administering 

the potentially hazardous test/ 

treatment to explain to the 

patient and caregivers the 

main risks that are involved in 

the procedure, and after giving 

this information, the doctor 

may proceed only if consent 

has been given in writing by 

the patient/caregiver or in 

the manner explained under 

Drugs and Cosmetic Act Rules 

2016 on informed consent. 

RIGHT TO CONFIDENTIALITY, 

HUMAN DIGNITY, AND 

PRIVACY 

All female patients have 

the right to the presence of 

another female person during 

physical examination by a 

male practitioner. It is the duty 

of the hospital management 

to ensure the presence of 

such female in the case of 

female patients. 

RIGHT TO SECOND OPINION 

Every patient has the right to 

seek the second opinion from 

an appropriate clinician of 

patients’ / caregivers’ choice. 

The hospital management has 

a duty to respect the patient’s 

right to second opinion, and 

should provide to the patients 

caregivers all necessary 

records and information 

required for seeking such 

opinion without any extra cost 

or delay. 

RIGHT TO TRANSPARENCY 

IN RATES 

Every patient has a right to 

receive health care services 

within the range of rates 

for procedures and services 

prescribed by Central and 

State Governments from time 

to time, wherever relevant. 

However, no patient can 

be denied choice in terms 

of medicines, devices and 

standard treatment guidelines 

based on the affordability of 

the patients’ right to choice. 

RIGHT TO NON- 

DISCRIMINATION 


must regularly orient and 


instruct all its doctors and staff 

regarding the same. 


a duty to ensure that no form 

of discriminatory behaviour or 

treatment takes place with any 

person under the hospital’s 

care. 

RIGHT TO SAFETY AND 

QUALITY CARE ACCORDING 

TO STANDARDS 


a duty to ensure the safety 

of all patients in its premises 

including clean premises 

and provision for infection 

control guidelines and to 

avoid medical negligence or 

deficiency in service. 

RIGHT TO CHOOSE THE 

SOURCE FOR OBTAINING 

MEDICINES OR TESTS 

When any medicine is 

prescribed by a doctor or a 

hospital, the patients and 

their caregivers have the 

right to choose any registered 

pharmacy of their choice to 

purchase them. 

RIGHT TO CONTINUITY 

OF CARE 

The patient and caregivers 

have the right to be informed 

by the hospital about any 

continuing healthcare 

requirements following 

discharge from the hospital. 


has a duty to ensure proper 

referral and transfer of 

patients regarding such a shift 

in care. 

RIGHT TO TAKE DISCHARGE 

OF THE PATIENT, OR RECEIVE 

THE BODY OF DECEASED 

FROM THE HOSPITAL 

A patient has the right to 

take a discharge and cannot 

be detained in a hospital, 

on procedural grounds such 

as a dispute in payment of 

hospital charges. Similarly, 

caretakers have the right to 

the dead body of a patient 

who had been treated in 

a hospital and the dead 

body cannot be detailed 

on procedural grounds, 

including nonpayment/dispute 

regarding payment of hospital 

charges against wishes of the 

caretakers. 

RIGHT TO CHOOSE 

ALTERNATIVE TREATMENT 

OPTIONS IF AVAILABLE 

In case a patient leaves a 

healthcare facility against 

medical advice on his / her 

own responsibility, then 

notwithstanding the impact 

that this may have on the 

patient’s further treatment 

and condition, this decision 

itself should not affect the 

observance of various rights 

mentioned in this charter. 

RIGHT TO PATIENT 

EDUCATION 

The hospital management and 

treating physician have a duty 

to provide such education 

to each patient according 

to standard procedure in 

the language the patients 

understand and communicate 

in a simple and easy to 

understand manner. 

RIGHT TO BE HEARD AND 

SEEK REDRESSAL 

Patients and caregivers have 

the right to seek redressal in 

case they are aggrieved, on 

account of infringement of 

any of the above-mentioned 

rights in this charter. This 

may be done by lodging a 

complaint with an official 

designated for this purpose 

by the hospital/healthcare 

provider and further with an 

official mechanism constituted 

by the government such as 

Patients’rights Tribunal Forum 

or Clinical establishments 

regulatory authority as the 

case may be. 

Every hospital and clinical 

establishment has the duty 

to set up an internal redressal 

mechanism as well as to fully 

comply and cooperate with 

official redressal mechanisms 

including making available 

all relevant information 

and taking action in full 

accordance with orders of 

the redressal body as per the 

Patient’s Right Charter or as 

per the applicable existing 

laws. 

RIGHT TO PROTECTION 

FOR PATIENTS INVOLVED IN 

CLINICAL TRIALS 

RIGHT TO PROTECTION OF 

PARTICIPANTS INVOLVED IN 

BIOMEDICAL AND HEALTH 

RESEARCH 


ethics 

perspectives 

DOCTORS OWE A CONSTITUTIONAL 

DUTY TO TREAT THE HAVE-NOTS: SC 

The Supreme Court of India has observed that a doctor cannot refuse treatment 

to a person merely on the ground that he cannot afford it 

India’s Supreme Court, while 

deliberating on the case pertaining 

to the Delhi government’s circular 

to hospitals built on subsidised 

land, has observed that members 

of the medical profession owe a 

constitutional duty to treat the 

poorer sections of the society. 

Doctors cannot refuse to treat 

a person who is in dire need of 

treatment by a particular medicine or 

by a particular expert merely on the 

ground that he is not in a position 

to afford the fee payable for such an 

opinion or treatment, the court ruled. 

Setting aside the Delhi High Court 

order that had dismissed the circular 

issued by the Delhi government, the 

SC bench directed all the hospitals in 

Delhi to go by the conditions imposed 

by the government. 


What the Supreme Court said 

THE COURT UPHELD THE 

DELHI GOVERNMENT 

CIRCULAR SAYING THAT 

STIPULATION FOR FREE 

TREATMENT DOES NOT 

AMOUNT TO RESTRICTION 

UNDER ARTICLE 19(6) ON 

THE RIGHT ENSHRINED 

UNDER ARTICLE 19(1)(G). 

The circular issued by the 

Government of NCT of Delhi had asked 

the hospitals built on subsidized land 

to provide free treatment to 10% 

indoor patients and 25% outdoor 

patients from the economically 

backward people. 

The court upheld the Delhi 

government circular saying that such 

stipulation for free treatment does not 

amount to restriction under Article 

19(6) on the right enshrined under 

Article 19(1)(g). 

The bench also directed the 

government to file periodic reports 

for one year on the compliance of the 

conditions by hospitals in Delhi. 

Describing the denial of proper 

treatment to a person belonging to the 

lower economic strata of the society as 

inhuman, Justice Arun Mishra made some 

observations about medical profession and 

ethics in his 124-page judgement. 

Medical profession deals with the life 

of human beings. There has to be a 

balancing of human rights with the 

commercial gains. 

Members of the medical profession 

owe a constitutional duty to treat the 

have-nots. They cannot refuse to treat a 

person who is in dire need of treatment 

by a particular medicine or by a particular 

expert merely on the ground that he 

is not in a position to afford the fee 

payable for such an opinion/treatment. 

The moment it is permitted, the medical 

profession would become purely a 

commercial activity. It is not supposed to 

be so due to its nobleness. 

It would be inhuman to deny a person 

who is not having sufficient means, or no 

means, to afford life-saving treatment, 

simply on the ground that he is not 

having enough money. If treatment is 

refused due to financial reasons, it would 

be against the very basic tenets of the 

medical profession and the concept of 

charity in whatever form we envisage the 

same. Besides being unconstitutional, it 

would be violative of basic human rights. 

By and large, hospitals have now 

become centres of commercial 

exploitation and instances have come 

to notice when a dead body is kept as 

security for clearance of bills, which is 

per se illegal and a criminal act. In future, 

whenever such an act is reported to the 

police, it is supposed to register a case 

against the management of the hospital 

and all concerned doctors involved in 

such an inhumane act which destroys 

the basic principles of human dignity and 

is tantamount to a criminal breach of the 

trust reposed in the medical profession. 

The state spends and invests a huge 

amount of public money on the making 

of a doctor, and it is the corresponding 

obligation on the part of the doctor 

to serve the needy. Treatment cannot 

be refused on the ground of financial 

inability of the patient. 

Besides wrong reporting, uncalled for 

investigation -- inclusive of invasive tests 

on the heart and other parts of the body, 

which are wholly unnecessary -- are 

performed. It is time for soul-searching 

for big hospitals in and around Delhi, 

Gurgaon and other places. They must 

ponder what they are doing. Is it not 

a criminal act? The fact that action is 

not taken does not absolve them of 

the responsibility. Time has come to 

fix accountability and to set right the 

evils which have rotten the system. The 

medical profession had never been 

intended to be an exploitative device to 

earn money at the cost of the patients 

who require a godly approach and 

the helping hand of doctors. Every 

prescription starts from Rx, not from 

the amount of bill. Big commercial 

international hospitals, are not above 

the ethical standards which they have 

to maintain at all costs, including by 

extending financial help to the have-nots. 

The hospitals nowadays have five-star 

facilities. The entire concept has been 

changed to make commercial gains. They 

are becoming unaffordable. The charges 

are phenomenally high, and at times 

unrealistic compared with the service 

provided. The dark side of such hospitals 

can be illuminated only by the sharing 

of the obligation towards economically 

weaker sections of the society. It would 

be almost inhuman to deny proper 

treatment to the poor owing to economic 

conditions. 


devices&gadgets 

MRI-compliant cochlear 

implant cleared in US 

Once-weekly 

exenatide pen 

gets EC nod 

The European Commission 

(EC) has approved 

Bydureon BCise (exenatide 

2mg prolonged-release 

suspension for injection in prefilled 

pen) for the treatment of 

patients with type-2 diabetes. 

The new formulation of 

once-weekly Bydureon is an 

improved single-dose, pre-filled 

pen device that requires no 

titration and is approved for 

use in combination with other 

glucose-lowering medicines, 

said AstraZeneca, the maker of 

the device. 

The EC approval is based 

on the data from two clinical 

trials, Duration-Neo-1 and 

Neo-2. Duration-Neo-1 is a 

28-week, randomised, openlabel, 

comparator-controlled 

trial (n=375), which showed 

that once-weekly Bydureon 

BCise demonstrated an HbA1c 

reduction of 1.4% vs. 1.0% for 

twice-daily Byetta (exenatide) 

injection at 28 weeks (baseline 

HbA1c 8.5% and 8.4%, 

respectively). Additionally, 

Bydureon BCise demonstrated 

a mean weight reduction of 

-1.5 Kg as monotherapy vs. -1.9 

Kg (baseline was 97 Kg) when 

combined with certain oral 

antidiabetic medicines. 

This new formulation of 

once-weekly Bydureon BCise 

was approved by the US FDA in 

October 2017. 

HiRes Ultra 3D cochlear 

implant, produced by 

Advanced Bionics, has 

received clearance from the 

USFDA. 

The new magnet design 

provides alignment with an 

external magnetic field in any 

direction. This allows cochlear 

implant recipients to move 

freely around in the strong 

magnetic field of an MRI 

machine without feeling 

pain or discomfort, and 

without restrictions 

to the orientation of the 

head. Even for high resolution 

MRI examinations, there is 

no need to remove the 

magnet and no requirement 

for head bandaging, 

meaning no hearing 

downtime for the patient, 

the company said. 

Previously, patients and 

Philips launches 

computational 

path software 

R 

oyal Philips has launched a 

new version of TissueMark, 

an AI-driven application to 

address most critical primary 

tumours encountered for 

surgeons had to contend with 

the strong magnetic field 

from MRI machines exerting 

force on the magnet, causing 

torque and subsequent pain if 

the magnet remained in situ, 

even with head bandaging. 

Therefore, it was common to 

remove the magnet for high 

resolution MRI examinations, 

requiring outpatient surgery 

and interrupting the patient’s 

molecular research testing. It 

now supports region-of-interest 

detection for the majority of 

molecular testing and helps 

research labs improve the 

accuracy of tumour estimation. 

The new version leverages 

deep learning AI to aid in 

prostate and ovarian tumour 

tissue identification. 

The updated TissueMark 

hearing during the healing 

process. 

Advanced Bionics is 

developing hearing solutions 

for individuals with severe-toprofound 

hearing loss who 

no longer benefit from 

hearing aids. 

software now provides tumour 

sufficiency guidance for lung 

histology, lung cytology, colon 

and breast tissue samples in 60 

seconds in addition to guidance 

to whole slide images (WSI) 

of adenocarcinoma prostate 

tissue and high-grade serous 

carcinoma ovarian tissue. 

Using a microscope for 

tumour estimation is subjective 

and leads to high variability 

amongst pathologists, 

according to Philips. By 

digitizing the tissue slide and 

analysing the image with 

computational software and 

intelligent algorithms, it can 

better support pathologists’ 

workflows and help labs 

enhance quality and reliability, 

while reducing costs by limiting 

the number of molecular tests 

performed with insufficient 

tumour content. 

AI-powered solutions 

also have great potential to 

make solutions adaptive to 

the needs of clinicians to help 


them further improve patient 

outcomes. 

Baxter's new 

bone graft 

gets US nod 

The US FDA has granted 

approval for the Actifuse 

Flow Bone Graft Substitute for 

use in a variety of orthopaedic 

surgical procedures, said Baxter 

International Inc. 

Actifuse Flow offers 

accelerated bone growth in a 

new, easy-to-use, prepackaged 

delivery syringe for precise 

placement into small bony 

voids or gaps in the skeletal 

system. It comes ready to use 

with no mixing or preparation 

involved and maintains 

its flowable consistency 

throughout surgery. 

The bone graft substitute 

is delivered directly from a 

preloaded syringe with the 

ability to start and stop delivery, 

making it compatible with 

open and less invasive surgical 

techniques and well-suited for 

filling small bone defects and 

complex geometries. As the 

graft substitute resorbs, it is 

replaced by the patient’s own 

bone during the body’s healing 

process. 

Actifuse Flow is a bone 

void filler intended only for 

orthopaedic applications as a 

filler for gaps and voids that 

are not intrinsic to the stability 

of the bone structure. It is 

indicated to be packed gently 

into bony voids or gaps of the 

skeletal system, i.e., extremities, 

pelvis, and spine, including use 

in posterolateral spinal fusion 

procedures with appropriate 

stabilizing hardware. These 

defects may be surgically 

created osseous defects or 

osseous defects created from 

traumatic injury to the bone. 

Baxter expects it to be 

used in a variety of orthopaedic 

surgeries in the pelvis, 

extremities, and posterolateral 

spine. 

NephroPlus 

launches buttonhole 

needles 

N 

ephroPlus, a network of 

dialysis centres in India, 

has introduced the buttonhole 

needles for painless dialysis. 

Buttonhole cannulation is a 

technique used often in home 

hemodialysis where blunt 

needles are used instead of 

sharp ones. 

Most dialysis patients 

report pain during the insertion 

of the needles as their biggest 

fear in a dialysis treatment. The 

Buttonhole needles addresses 

this issue by reducing the 

amount of pain drastically, 

according to a release. 

In this technique, first a 

tract is formed in the flesh 

by pricking a sharp needle 

at the same point at the 

same angle during five to six 

successive dialysis sessions. 

Subsequently, a blunt needle 

is used for cannulation that 

goes through this tract without 

Apple Watch Series 4 to 

track ECG 

The US Food and Drug 

Administration has 

cleared the Apple Watch 

Series 4 to operate as an 

OTC device to monitor ECG. 

The FDA approval makes 

Apple Watch the first device 

available to consumers over 

the counter to monitor ECG. 

The new Apple Watch 

Series 4 version has 

electrodes placed in the 

sapphire crystal and digital 

crown that allows users to 

take an ECG at any time 

using the app provided. The 

Apple Watch can show 

its first ECG to users 

without a doctor 

review. 

The Health app 

allows all ECG 

recordings stored 

in so that they 

can be shared 

with healthcare 

professionals at a 

later time. 

Apple plans to add 

more capabilities in the 

device later this year to 

aid detect atrial fibrillation. 

Health-care products 

on ubiquitous devices, like 

smart watches, may help 

users seek treatment earlier 

and will empower them 

with more information 

about their health, the FDA 

Commissioner Scott Gottlieb 

said in a statement. "The 

FDA worked closely with the 

company as they developed 

and tested these software 

products, which may help 

millions of users identify 

health concerns more 

quickly," he added. 

The Apple Watch Series 

4 line starts at $399. It is 

$70 more than the starting 

price of last year's model. 


much pain. Buttonhole needle 

method is not only pain free; it 

is safer and easier for dialysis 

patients. Patients undergoing 

dialysis through this method 

have reported reduction of 

pain more than 95 per cent 

compared with the previous 

method. 

NephroPlus has 128 centres 

currently in 82 cities across 18 

states in India. 

Novaerus launches 

plasma air 

purifier in India 

Novaerus, an Irish company 

specializing in non-chemical 

air disinfection, launched the 

Defend 1050 in India. 

Defend 1050 is a portable, 

easy to use device for rapid 

disinfection and purification 

of the air in large spaces and 

high-risk situations such as 

operating-theatres, ICUs, 

IVF labs, emergency 

and waiting rooms, and 

construction zones. 

Defend 1050 uses patented 

dielectric-barrier discharge 

(DBD) ultra-low energy plasma 

technology. It utilises specifically 

designed multi-stage pre-filters, 

HEFA filters and carbon filter 

systems to reduce infection, 

absorb odours, neutralize 

volatile organic compounds 

(VOCs), and trap particulate as 

small as 0.3µm. 

“With time, we have seen 

a high contamination rate 

in the air, which is resulting 

toin an alarming increase in 

airborne diseases and causing 

adverse results to human 

health. The plasma technology 

Kleresca launches new biophotonic treatment 

Kleresca has released a new biophotonic 

technology for the treatment of rosacea. 

The treatment uses fluorescent light 

energy to stimulate the skin’s own repair 

mechanisms through photobiomodulation. 

The system consists of a patented, 

multi-LED Kleresca lamp designed with 

specific, pre-programmed wavelength 

settings and a specially formulated 

photoconverter gel. Chromophores in the 

gel convert light waves from the lamp 

into dynamic, pulsing fluorescent energy 

that stimulates the skin’s own repair 

mechanisms. The treatment is non-invasive 

and generally perceived as comfortable 

even to rosacea patients with enhanced skin 

sensitivity. 

brought by Novaerus has been 

studied by NASA that has 

shown how the technology is 

an answer to this crisis,” said 

Una Ni Raghallaigh, Business 

Development Director, EMEAA 

region for Novaerus Inc while 

launching Defend 1050 at ISAR 

(Indian Society for Assisted 

Reproduction) conference 

organized in Aurangabad, 

recently. 

Roche's 

diagnostic test 

for NSCLC 


Roche’s cobas EGFR 

Mutation Test v2 as a 

companion diagnostic test 

(CDx) with gefitinib (Iressa). 

Gefitinib is a targeted 

monotherapy for the treatment 

of patients with advanced or 

metastatic epidermal growth 

factor receptor (EGFR) exon 19 

deletions or exon 21 (L858R) 

substitution mutation-positive 

NSCLC. Iressa acts by inhibiting 

the tyrosine kinase enzyme in 

the EGFR, thus inhibiting the 

transmission of signals involved 

in the growth and spread of 

tumours. 

A CDx test provides 

information that is essential for 

the safe and effective use of 

a corresponding therapeutic 

product. Clinical studies have 

demonstrated that patients 

diagnosed with NSCLC who test 

positive for defined mutations 

of EGFR gene benefit from 

tyrosine kinase inhibitor (TKI) 

therapies. 

The treatment for rosacea is now available 

to patients through aesthetic clinics across 10 

markets including Denmark, UK, France, Spain, 

Italy, Germany, Belgium, Norway, Australia and 

Switzerland. 

Apart from reducing inflammation, the 

in-clinic treatment lowers the presence 

of papules and pustules; cuts down 

erythema and blushing by improving 

microvascularisation; mitigates the overall 

stress level of the skin, thereby reducing the 

feeling of burning and stinging and induces a 

healing response. 

The Kleresca biophotonic system has 

been available on the market since 2014. The 

company recently obtained own CE-mark on 

all its products. 

The cobas EGFR Mutation 

Test v2 is currently the only 

FDA-approved diagnostic test 

for NSCLC using liquid biopsy. 

EGFR testing in plasma offers a 

non-invasive option for patients 

using a simple blood draw for 

those who are not eligible for a 

tissue biopsy. 

The cobas EGFR Mutation 

Test v2 is a real-time 

polymerase chain reaction 

(PCR) test for the qualitative 

detection of 42 defined 

mutations of the EGFR gene in 

exons 18-21, including L858R, 

exon 19 deletions, and T790M 

mutations. 

Clinical studies such as 

AURA, AURA2, FLAURA, 

ENSURE, EURTAC, and 

FASTACT2, have demonstrated 

the reliability of the cobas EGFR 

Mutation Test v2, Roche said. 


Non-surgical 

option for 

hearing loss 

Med-El has been granted 

marketing approval 

for Adhear, a non-surgical 

bone conduction hearing 

technology. 

Adhear offers an option 

for people with conductive 

hearing loss who are not 

candidates for, or who would 

not like to undergo, bone 

conduction implant surgery. 

It is also a treatment option 

for candidates with singlesided 

deafness and normal 

hearing on the contralateral 

side. 

Adhear is easy to use. An 

adhesive adapter is placed 

onto the skin behind the 

ear and is worn for three to 

seven days at a time. The 

lightweight audio processor is 

simply clicked on and off each 

day. The audio processor picks 

up sound waves, converts 

them into vibrations and 

transmits them onto the bone 

via the adhesive adaptor. 

The bone then transfers the 

vibrations through the skull to 

the inner ear where they are 

processed as normal sound. 

Bone conduction uses the 

bones of the skull to transmit 

sound waves directly to the 

inner ear and may be an 

appropriate option for people 

who have hearing loss due to 

problems with the eardrum, 

ear canal or middle ear. 

Unlike available nonsurgical 

bone conduction 

devices that cause discomfort 

for the user, Adhear 

comfortably stays in position 

without applying pressure 

onto the skin, while its 

discreet location behind the 

ear makes it cosmetically 

appealing. 

Med-El acquired the 

device’s technology from 

Swedish medical device 

company Otorix in 2016 and 

further developed Adhear 

at Med-El’s headquarters in 

Innsbruck, Austria. 

Conductive hearing loss is 

caused by problems with the 

ear canal, ear drum, or middle 

ear and its tiny bones. Causes 

of conductive hearing loss 

include congenital absence 

of the ear canal or failure of 

the ear canal to be open at 

birth, and congenital absence, 

malformation, or dysfunction 

of the middle ear structures. 

AI algorithm 

to detect wrist 

fractures 

Imagen’s OsteoDetect, a type 

of computer-aided detection 

and diagnosis software 

designed to detect wrist 

fractures in adult patients, will 

soon be available in the US 

market. 

The Osteo Detect software 

is a computer-aided detection 

and diagnostic software that 

uses an artificial intelligence 

algorithm to analyse twodimensional 

X-ray images for 

signs of distal radius fracture, 

a common type of wrist 

fracture. The software marks 

the location of the fracture on 

the image to aid the provider 

in detection and diagnosis. 

Osteo Detect analyses 

wrist radiographs using 

machine learning techniques 

to identify and highlight 

regions of distal radius 

fracture during the review of 

posterior-anterior and mediallateral 

X-ray images of adult 

wrists. 

OsteoDetect can be 

used by clinicians in various 

settings, including primary 

care, emergency medicine, 

urgent care and specialty 

care, such as orthopedics. 

It is an adjunct tool and 

is not intended to replace 

a clinician’s review of the 

radiograph or his or her 

clinical judgement. 

Imagen submitted a 

retrospective study of 1,000 

radiograph images that 

assessed the independent 

performance of the image 

analysis algorithm for 

detecting wrist fractures and 

the accuracy of the fracture 

localisation of OsteoDetect 

against the performance 

of three board-certified 

orthopedic hand surgeons. 

Imagen also submitted 

a retrospective study of 24 

providers who reviewed 

200 patient cases. Both 

studies demonstrated that 

the readers’ performance in 

detecting wrist fractures was 

improved using the software, 

including increased sensitivity, 

specificity, positive and 

negative predictive values, 

when aided by OsteoDetect, 

as compared with their 

unaided performance 

according to standard clinical 

practice. 

Deep TMS system to treat OCD 

BrainsWay Ltd has received clearance 

from the US FDA for its deep transcranial 

magnetic stimulation (Deep TMS) system 

for the treatment of obsessive-compulsive 

disorder (OCD) in adults. 

Deep TMS system is the first non-invasive 

medical device for the treatment of OCD. 

The system was granted approval in 2013 for 

the treatment of treatment-resistant major 

depressive disorder (MDD). 

BrainsWay’s Deep TMS technology differs 

from that of other focal TMS devices as it 

can directly stimulate areas of the brain at a 

greater depth and breadth. The device can 

target previously unreachable areas of the 

brain with its H7-coil, allowing it to effectively 

treat OCD as well. Clinics that have a Deep 

TMS systems can now treat MDD and OCD 

patients, the company said. 


ADVERTORIAL 

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VOLUMETRIC IMPEDANCE PHASE SHIFT SPECTROSCOPY (VIPS) 

DETECTS STROKE IN 30 SECONDS 

The Cerebrotech Visor, a new 

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the University of TennesseeHealth 

Sciences Center and elsewherein 

an article published in the Journal 

ofNeurointerventional Surgery. 

The volumetric impedance phase 

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bysending low-energy radio waves 

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The Cerebrotech Visor is a 

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In the study, the VIPS device 

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Both healthy participants and 

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This places theVIPS device above 

standard physicalexamination tools used 

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specificity scoresbetween 40 and 89 

percent. 

This is a sponsored article. FM editorial holds no responsibility for the information therein. 


ADVERTORIAL 

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This is a sponsored article. FM editorial holds no responsibility for the information therein. 


events 

debate 

ISGE-Pune kicks off debate over 

open vs telescopic surgery 

Experts debate the shift from vaginal to endoscopic surgeries to find 

the optimal approach for patients 

The three-day regional meeting 

of International Society of 

Gynaecology Endoscopy (ISGE) 

in Pune shined the spotlight on one 

of the most critical discussions in 

the field: Should new generation 

gynaecology surgeons restrict 

themselves to telescopic procedures 

or also look at the benefits of a 

complementary approach involving 

traditional surgeries? The debate came 

up in the wake of the increasing trend 

of promoting endoscopic surgeries 

in India despite the fact that both 

procedures have their merits and 

demerits as far as patient safety is 

concerned. 

The conference, which had several 

theoretical lectures presented by 

renowned speakers in the field of 

gynaecological endoscopy, was also 

Doctors should not get 

carried away by technology 

campaigns and blindly say 

that they are exclusively 

laparoscopic surgeons. 

Prof. Bhaskar D Goolab 

Department of Obstetrics and 

Gynaecology, University of 

Witwatersrand, Johannesburg 

filled with panel discussions and 

practical workshops on different 

aspects of endoscopic surgical skills 

and the relay of live surgeries from 

different parts of the world. 

Though the event could 

successfully highlight the latest 

technical advances and innovations 

which are making surgeries safer and 

cost effective, a discussion over the 

traditional approach versus the new 

was an eye-opener, especially to new 

age clinicians. 

Sharing his decades-long 

experience in open as well as 

endoscopic gynaecological surgeries 

in India and abroad, Prof. Bhaskar 

D Goolab, Department of Obstetrics 

and Gynaecology, University of 

Witwatersrand, Johannesburg, South 

Africa, said that there are merits 


Although the cost of 

laparoscopic surgeries 

are higher compared to 

conventional procedures, 

these new methods help 

reduce the days of hospital 

stay. 

Dr P G Paul 

Chairman of Paul Hospital 

in both procedures. But, doctors, 

especially new-age gynec-surgeons, 

should not get carried away by 

technology campaigns and blindly say 

that they are exclusively laparoscopic 

surgeons. These kind of conferences 

are there to put such issues in 

perspective, he added.. 

“There is a debate that has come 

up now as to what is the role of 

telescopic surgery and what is the 

role of the conventional and longtrusted 

open surgery. There are merits, 

indications and pitfalls on both sides 

of the equation, but the key point 

of contention here is the paradigm 

shift that is predominantly driven by 

technology players towards these 

expensive surgeries. Gynaecologists 

simply follow the trend of telescopic 

surgery, unnecessarily turning some 

simple traditional procedure into 

an expensive technology procedure 

instead of weighing the specificity, fit 

case, patient choice and safety,” Dr 

Goolab said. 

“Of course, there is merit in 

suitably chosen cases. For example, 

diseases like endometriosis or massive 

uterine fibroids, which makes the 

removal process difficult through 

the vaginal route, need to be done 

Since the hospital meter 

starts running from the 

very moment the patient 

gets admitted, a reduced 

hospital stay is often a big 

saving for the patient. 

Dr Rishma Dhillion Pai 

Senior Gynaecologist & 

Endoscopist 

through telescopic surgery, depending 

on the skill of the doctor. There 

are also risk factors like burn and 

other complications associated with 

endoscopic surgeries as it uses electric 

power,” he added. 

While others agreed with the view 

that the debate remains relevant as far 

We wanted to showcase the 

Indian skill-set in endoscopy 

to the world through this 

event and, at the same 

time, wanted our young 

gynaecologists to learn from 

the experienced doctors 

from all over the world. 

Dr Sunita Tandulwadkar 

Organising Chairman, ISGE-Pune 

as some specific cases are concerned, 

they argued that laparoscopic 

technologies have actually made 

procedures much easier for the patient 

and the surgeon, both technically and 

in terms of indirect costs. 

According to Dr P G Paul, one 

of the most senior gynaecology and 

endoscopic surgeons in India and the 

chairman of Paul Hospital, it is natural 

that technology development drives 

the industry to better options, though 

doctors always have the opportunity 

to choose the best according to 

his/her skill-set and the benefit of 

the patients. 

“It is not only the procedure cost 

that matters in the overall treatment. 

Although the cost of laparoscopic 

surgeries are higher compared to 

conventional procedures, these new 

methods help reduce the days of 

hospital stay and the patients can 

resume their routines faster after the 

surgery,” Dr Paul said. 

“The advanced and innovative 

technologies in endoscopy have 

effectively helped in saving both 

cost and time for patients, though 

the cost of the procedure as such 

is comparatively higher. Since the 

hospital meter starts running from 

the very moment the patient gets 

admitted, a reduced hospital stay is 

often a big saving for the patient,” 

said Dr Rishma Dhillion Pai, Senior 

Gynaecologist & Endoscopist and 

President, Indian Association of 

Gynaecological Endoscopists (IAGE). 

Dr Sunita Tandulwadkar, the 

organising chairman of the 2018 

regional conference, said the 

conference was unique in several 

aspects, including the presence of 

live workshops, academic sessions 

and a number of senior national and 

international speakers. 

“Also, we wanted to showcase 

the Indian skill-set in endoscopy to 

the world through this event and, at 

the same time, wanted our young 

gynaecologists to learn from the 

experienced doctors from all over the 

world, who shared their 25-30 years’ 

experience in handling unique cases,” 

she said. 


events 

KENTCON-2018 highlights 

advancements in otolaryngology 

The 3-day event stressed the need for exchanging ideas in multifarious 

areas of ENT practice 

DIVYA CHOYIKUTTY 

The 17thannual conference 

of Association of 

Otorhinolaryngologists of India 

highlighted emerging technology 

breakthroughs and surgical techniques, 

such as computer assisted navigation, 

endoscopic skull base surgery and facial 

reanimation. 

KENTCON-18, which was held 

from 7th to 9th September in 

Kochi, was attended by over 500 

otorhinolaryngologists from across 

the globe. The three-day convention, 

organized by the Kerala State Branch 

of AOI in association with Cochin 

Society of Otorhinolaryngologists for 

Medical Society (CSOM), stressed the 

need for exchanging ideas and creating 

awareness on medical technologies and 

advancements in multifarious areas of 

ENT. 

Dr. Preethy Mary from Medical Trust 

Hospital, Cochin said the new concepts 

in endoscopic surgery are helping 

with the removal of tumours from 

inaccessible locations of skull base. 

“Some of the tumours located at 

extremely inaccessible locations like the 

skull base can now be removed through 

the nasal route via endoscopy,” she said. 

“Earlier, the removal of such tumours of 

the pituitary gland was entirely a domain 

of neurosurgery. The new techniques in 

nasal endoscopy now make it possible 

to remove these difficult-to-access 

tumours as a combined procedure of 

transnasal pituitary surgery,” Dr Mary 

added. 

The diagnosis of ENT disorders 

too have improved with the advent 

of technological advancements 

involving endoscopy, ultrasonography, 

The refinement of ultrasound 

technology for noninvasive 

localisation of airway 

obstruction helps proper 

clinical validation and early 

diagnosis of OSA. 

Dr. Amal Isiah 

University of Maryland 

implants and surgical navigation, which 

has helped in implementing better 

treatment and minimizing the number 

of complications and hospital stays. 

The conference also featured a 

live surgical demonstration of facial 

reanimation on cadaver, performed 

by Dr. Kalpesh Vakharia, to highlight 

the management of facial paralysis, 

one of the most complex areas of 

reconstructive surgery. 

Significant advances in the field of 

trans-oral robotic surgery (TORS) and 

the minimal invasive approach towards 

efficient resection of tumours in the 

oropharynx area were elucidated by Dr. 

Kyle M. Hatten, who also reflected on the 

slow, but steady rise in oropharyngeal 

cancer seen over the past decades. 

He also mentioned the risk of human 

papilloma virus, which is expected to be 

the major causative organism for head 

and neck cancer in the US by 2030. 

Stressing the importance of 

managing obstructive sleep apnea 

(OSA), Dr. Amal Isiah of University of 

Maryland, said: ”The refinement of 

ultrasound technology for noninvasive 

localisation of airway obstruction along 

with the conventional technique of 

polysomnography, helps proper clinical 

validation and early diagnosis of the 

disorder.” 

The conference also cautioned about 

the lack of new research in the field, 

and that the country has always been 

dependent on technologies invented 

and patented elsewhere. 

Several experts from across India and 

GCC participated in the conference. 


NEXTGEN GENOMICS, BIOLOGY, BIOINFORMATICS 

AND TECHNOLOGIES 

SEP 30 th - OCT 2 nd , 2018 

CONFERENCE 

FAIRMONT, JAIPUR, INDIA 

The 2018 NextGen Genomics, Biology, Bioinformatics and Technologies (NGBT) Conference 

is an international meeting organized by SciGenom Research Foundation (SGRF), a 

not-for-profit organization working to promote Science, Research & Education. The 

conference will also focus on convergence of clinical and genomic technologies for better 

healthcare outcomes. 

Key topics include: 

Clinical genomics 

Cell free DNA 

Exome Sequencing 

Genome sequencing 

Human genomics 

Liquid Biopsy 

Medical Genomics 

Non-Invasive testing 

Onco-Genomics 

Pharmacogenomics 

Protein engineering 

Protein structure 

RNA-Seq Sequencing 

SNP Analysis 

Whole Genome Sequencin 

Live and Let Live: 

Snakebite Cure 

Symposia 

Oct 1 st 2018, Jaipur, India 

Genomics Project Grants 

Student Meeting Scholarships 

Travel Awards 

20 keynote lectures; 50+ talks 

1000 delegates; 200+ posters 

Vendor Exhibition 

Co-hosts 

Sponsors Knowledge Partner & Poster prize sponsors Media Partners 

Ms. Lakshmi V | M: +91-9591506568 / Mr. Srijith VM | M: +91- 9497118365 

ngbt2018@sgrf.org | www.sgrfconferences.org | www.sgrf.org

calendar 

Upcoming conferences 

OCTOBER 

SURGERY 

OF THE HAND 

5- 7 

42nd Annual Conference 

of Indian Society for 

Surgery of the Hand 

(ISSHCON) 

Coimbatore, Tamil Nadu 

ORTHOPAEDICS 

Conference of Indian 

Arthroscopy Society 

(IASCON) 

Kozhikode, Kerala 

6-7 

SURGERY 

Asian Conference of 

Tumor Ablation 

Chennai, Tamil Nadu 

XENOBIOTICS 

10-13 

Conference of the Indian 

Society for the Study of 

Xenobiotics 

Bangalore, Karnataka 


PEDIATRIC 

DIABETES 

11 - 14 

44th Annual Conference 

of International Society 

for Pediatric and 

Adolescent Diabetes 

(ISPAD) 

Hyderabad, Telangana 

NANOMEDICINE 

12-14 

International Conference 

on Nanomedicine and 

Tissue Engineering (ICNT) 

Ettumanoor 

ICRAMHS 

15-16 

Academics World 470th 

Intl Conference on Recent 

Advances in Medical and 

Health Sciences 

New Delhi 

ANAESTHESIA 

19-21 

ISACON Gujarat 

Surat 

DIABETES 

25 - 27 

International Diabetes 

Federation (IDF) Diabetes 

Complications Congress 


Hyderabad, Telangana 

UROLOGY 

Zone Conference of 

Urological Society of 

India-West Zone (ZCUSI) 

Raipur 

PEDIATRICS 

26-28 

National Conference 

on Pediatric Infectious 

Diseases (NCPID) 

Ahmedabad 

ICMBPS 

29-30 

IASTEM -485th 


on Medical, Biological and 

Pharmaceutical Sciences 

Delhi 

NOVEMBER 

SKULL BASE SURGERY 

1-3 

Annual Conference of 

Skull Base Surgery Society 

of India (SKULLBASECON) 

Ludhiana 

UROLOGY 


Urological Society of 

India East Zone Chapter 

(ACUSIEZC) 

Ahmedabadt 

TELEMEDICINE 

Telemedicon 2018 - 14th 


of Telemedicine Society 

of India 

Amravati, Andhra 

Pradesh 

SLEEP APNEA 

10-11 

AOCMF Seminar - 

Advances in Sleep Apnea 

and Orthognathic 


RESPIRATORY 

DRUG DELIVERY 

14-16 

Respiratory Drug Delivery 

(RDD) Asia Conference 


Kochi, Kerala 

PAEDIATRIC 

NEUROLOGY 

15-18 

15th International Child 

Neurology Congress 

Mumbai, Maharashtra 

IPS 

15-18 

46th IPS National 

Conference Mangalore 


Mangalore, Karnataka 

NUCLEAR 

CARDIOLOGY 

22-25 

American Society of 

Nuclear Cardiology 

(ASNC) Society of Nuclear 

Medicine 

Chandigarh, Chandigarh 

NUCLEAR 

CARDIOLOGY 


Cardiological Society of 

India 

Mumbai 

ANAESTHESIOLOGY 

25-29 

Conference of 

Indian Society of 

Anaesthesiologists 

Agra 

INFECTIOUS DISEASES 

28-29 

World Congress on 

Infectious Diseases and 

Antibiotics 

Bengaluru 

GASTROENTEROLOGY 

28-Dec 1 

Annual Conference 

of Indian Society of 

Gastroenterology (CISG) 

Ernakulam 

GENOMICS 

29-30 

Next Generation 

Sequencing in Clinical 

Genomics 

Bengaluru 

OPHTHALMOLOGY 

29-Dec 2 

Conference of Vitreo 

Retinal Society 

Jaipur 

BURN INJURIES 

30-Dec 4 

19th Congress of the 

International Society for 

Burn Injuries (ISBI) 

Gurugram, Delhi 

The announced dates of the conferences may change 


ook review 

FOETUS AS A 

PATIENT 

PRINCIPLES AND 

PRACTICE OF FETAL 

MEDICINE 

By Raju R Sahetya, 

Jaideep Malhotra & 

Hema Purandarey 

pp381 Jaypee Brothers 

The prevalence of genetic diseases 

and birth defects in India is far higher 

than what is apparent on casual 

observation. Advances in genomics and 

growing awareness would certainly help 

to fathom the situation better. Still, since 

genetic disorders are multisystem and 

lifelong, genetic services alone won’t entirely 

suffice. The efforts should be integrated with 

related medical services like prenatal health, 

preconception planning, child development 

monitoring etc.. 

This is where the emerging discipline of 

Foetal Medicine achieves greater importance. 

The scope of prenatal diagnosis, through the 

last four decades, has increased from routine 

to predictive diagnosis of disorders that are 

likely manifest later in life. 

Principles and Practice of Fetal Medicine, 

authored by Raju R Sahetya, Jaideep 

Malhotra and Hema Purandarey, presents an 

extensive discussion of the rapidly expanding 

field of prenatal and perinatal diagnosis and 

treatment. 

Spread across forty-three chapters 

covering every aspect of foetal medicine, the 

book forms a major source of reference and 

guidance to a wide range of professionals. 

Starting with an overview of prenatal 

diagnosis, the ten sections of the book give 

in-depth insights into prenatal counselling, 

invasive and non-invasive prenatal screening 

and diagnostic techniques, lab techniques 

on genetic testing and pre-implantation 

diagnosis, antenatal use of foetal therapy, 

prenatal foetal surgery, ethical and 

medicolegal aspects and the future of 

prenatal diagnosis. 

The concluding section of the book offers 

good practice guidelines recommended by 

the International Federation of Gynaecology 

and Obstetrics (FIGO) and best practice 

advice on maternal-foetal medicine. 

These sections, coupled with more 

than 350 clinical photographs, tables, 

illustrations, figures and charts, make 

Principles and Practice of Fetal Medicine a 

ready-reckoner and a handbook of choice for 

obstetricians, geneticists, genetic counsellors, 

ultrasonologists, paediatricians and lab 

technicians. 

The authors, after providing brief 

historical and contemporary perspectives, 

attempt to trace the influence of genomic 

EMPHASISING THE NEED FOR 

AN ”ENERGETIC SHIFT” IN THE 

RESEARCH FOCUS ON PRENATAL 

SCREENING AND DIAGNOSIS, 

THEY CALL FOR AN EXPANSION 

OF ALL FUTURE STUDIES 

TO INCLUDE THERAPEUTIC 

STRATEGIES. 

medicine in pregnancy management and 

pregnancy outcome in coming days. 

Emphasising the need for an ”energetic 

shift” in the research focus on prenatal 

screening and diagnosis, they call for an 

expansion of all future studies to include 

therapeutic strategies. 

Although the ultimate objective of 

the book is to promote improved clinical 

management of pregnancies affected by 

an anomalous foetus, the immediate goals 

include better detection, diagnosis and 

understanding of ”the Foetal Medicine and 

foetus as a patient”, as the authors state in 

the preface. 


FAILURE TO VIEW PATIENT AS A 

WHOLE IS A HUGE TRAGEDY 

DR M R RAJGOPAL 

Founder, Pain and Palliative Care Society, Kozhikode 

I 

was trained as an anaesthesiologist in the early 

part of my career, when the responsibility of 

giving relief from pain was gradually coming into 

our field. In Calicut (now Kozhikode), where I first 

began working at a senior level, I was doing nerve 

blocks on various parts of the body. 

However, an experience with one patient in the 

1980s compelled me to take a fresh look at what I 

was doing. This was a 42-year old college professor, 

suffering from cancer, and he was referred to me 

for pain relief. I did for him what I had done for 

numerous others and his pain receded but a day later, 

he committed suicide! Everyone in my department 

was shocked because here was a case where our 

treatment was a success, and yet we lost the patient. 

On enquiry, I was told that he had been given the 

impression that my treatment was intended to cure 

his cancer. Nobody had made it clear that it was for 

the limited purpose of relieving the severe pain that 

he was suffering from. When he realized that his 

cancer was essentially incurable, he gave up all hope 

of life itself. 

It conveyed to me the invaluable lesson that every 

doctor must look at his patient as a whole person, and 

not just a collection of organ systems. It is a mistake 

that many doctors make even today – they treat the 


disease, and not the person suffering from a disease. 

For me as an individual, it brought me face to face 

with my calling – to develop the (then) nascent field 

of palliative care. My colleagues and I work through an 

organization named Pain and Palliative Care Society, 

based in Kozhikode. Set up in 1993, it is able to reach 

out to patients wherever they are. Thus, we have 

managed to cater to over 3 million patients till now. 

Our experience has lessons for doctors and 

healthcare professionals in other countries as well, 

because of which we have worked with the WHO 

Collaborating Centre of the Pain and Policy Studies 

Group (PPSG) from a very early stage. Here, the 

purpose was to bring about changes in the regulatory 

policy with regard to opioids and other pain-relief 

medicines. In a situation of terminal illness, we can 

take the risk of the patient developing an addiction, if 

it means improving the quality of life for the patient 

in the final stages. In such cases, the priority becomes 

different from the usual. 

The huge tragedy of healthcare today is that, 

because it fails to view the patient as a whole, the 

doctors inflict suffering in the process of treating a 

disease! 

— As told to Dr Sumit Ghoshal

A New Dawn... A New Hope 

With Passion and Expertise 

After redefining the healthcare scenario in Middle East Asia, 

Visionary Leader & Padmashri, Dr B R Shetty is now focusing on the Indian subcontinent with 

his healthcare enterprise 

“ 

With a mission of creating a healthier world by encompassing the values of care, compassion 

and clinical excellence, BR Life intends to become the numero uno network of hospitals across 

India and the Indian subcontinent. 

“ 

We deliver 

Evidence based clinical practice for best patient outcomes 

Ergonomically designed state-of-the-art infrastructure 

Worldclass affordable healthcare backed with cutting 

edge medical technologies 

The BR Life Group of Hospitals 

BR Life SUT Hospital, Pattom, 

Thiruvananthapuram, Kerala 

BR Life SSNMC Superspecialty Hospital, R R Nagar, 

Bengaluru, Karnataka 

BR Life Mother & Child Hospital, Udupi 

Karnataka. 

BR Life Kalinga Superspecialty Hospital, Gautamnagar 

Bhubaneswar, Odisha 

 

No. 8, Ideal Homes HBCS Layout, Rajarajeshwari Nagar, Bengaluru - 560 098, Karnataka, India. Tel: +91 80 6766 6766

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