The 10 Most Innovative Digital Healthcare Solution Providers 2018

Insider’s Opinion
Ms. Kavita Khatod
MBBS, MS (Molecular and Cell Biology),
Certified Medical Geneticist
Head, Technical Marketing & Genetic
Counselor
GenePath Dx
This has prompted pediatricians to use molecular tests to
augment their clinical acumen. Reproductive and maternal
health too has been revolutionized owing to developments
in molecular biology. This is critical for family planning
and its possible implications in cases of hereditary disease
and consanguineous marriage as most reproductive
decisions are seriously impacted with this knowledge.
Genetic testing is proving to be invaluable in the diagnosis
of critical infections such as sepsis and transplantassociated
infections as timely intervention is of paramount
importance in such cases and genetic tests have a very short
turnaround time compared to classical microbiological tests
such as urine or blood cultures.
Pharmacogenomics, better known as personalized
medicine, enables doctors to utilize the genetic profile of an
individual to tailor a therapy, and its dosage, that would
elicit the maximum response with minimal adverse effects.
This helps improve the prognosis in cases of cancers, single
gene disorders, neurometabolic disorders, and
hematological disorders. To maximize on this wealth of
information, it is essential to establish certain parameters
that include correct interpretation and communication, right
bioinformatic support, non-directive genetic counseling and
open access to population databases for comparison.
Every developing technology, however, has its own caveats
and pitfalls, some of which are unnecessary testing,
improper validation of tests and limited access to
population databases. In addition, the ethical complexities
of access to such information need to be reviewed as lifealtering
decisions may be based on the findings of the test.
It is imperative to maintain patient confidentiality and
results must always be conveyed by authorized and trained
personnel owing to the social stigma attached to such tests
as discrimination by employers, family members and
societal pressure lead to disfavoring outcomes. Establishing
and following guidelines to avoid unnecessary screening
and testing should be mandatory.
The impact of genomics is far-reaching and tapping into
new horizons. Data for the first human genome was
assimilated over a span of thirteen years through
cumbersome research. Since then, however, exponential
leaps in technology have shortened the time and monetary
investment required for whole genome sequencing (WGS),
thereby making personalized medicine a reality. Artificial
Intelligence (AI) will bridge the gap in accessing global
databases for data analysis and reduce human dependency
to a large extent. Awareness and education, however, are
required for the population and the clinicians to benefit
from the recent breakthroughs of modern molecular
science. Genomics is at a nascent stage and caution through
good governance is required to ensure that it evolves
rapidly to make concepts like gene editing a reality in our
lifetime.
| July 2018 | 31