FM OCTOBER 2018 ISSUE - digital edition

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
22 / FUTURE MEDICINE / OCTOBER 2018