MBBS, MS, FICMH, PhD (Reg. No. 21256)
Consultant & Medical Director (Prenatal & Reproductive Genetic)
MedGenome Centre for Genetic Health Care
India's First Private Genetic Healthcare Facility
Medical Genetics and Genomics
Some genetic disorders can express anytime in life. Therefore, medical genetics and genomics play an important role in screening, prediction, diagnosis, prevention, and management of genetic disorders/diseases in all specialities and pathies of medical practice.
About 60% of pregnancy losses, 10-15% of male and female infertility, 2-3% of all neonatal conditions and 50% of childhood deafness, blindness, intellectual deficiency as well as adult genetic disorders and 1-10% of all malignancies are directly related to genetic factors and more than 50% of other lifestyle disorders such as diabetes, hypertension, obesity have a genetic component.
With the advancement in genetic technology and bioinformatics following the 2003 conclusion of the human genome project, diagnostic capacities are expanding faster.
Thus, meaningful integration of genetic and genomic information in healthcare is the need of the day for a common man and medical specialists alike.
The need for genetic literacy
Though India is proud to be a melting pot of genetic diversity, a few castes and communities, practice consanguineous marriages causing the accumulation of damaging genetic variations, resulting in a heavy burden of genetic disorders and serious morbidity and mortality. However, due to demographic and epidemiological transitions genetics was not on the agenda of the national health priorities in the early 80s.
Realizing that, almost all genetic disorders though untreatable can be passed on, and lack of awareness is the main reason why people suffer. Dr. Hema was sure that she could help them with her training and skillset. Thus, after 15 years of medical teaching, and training in clinical/lab genetics and genetic counselling at world renowned institutes despite lucrative offers abroad she returned to India and devotedly made her life a mission to serve and offer state-of-the-art genetic services by starting India's first private genetic healthcare facility in Mumbai (1981/82) "Centre for Genetic Health Care,” to provide genetic counselling and laboratory testing while raising awareness about genetic disorders, management in the pre-computer era, without financial backing, infrastructure, and trained personnel, with a subdued response from the medical community because the subject was not included in the medical curriculum and professionals were unaware of the risk of recurrence and possibility of prenatal diagnosis.
Accreditations, lab genetics and genetic counselling
Striving for excellence, while upgrading herself she added newer tests.
CGHC is accredited by College of American Pathologists since 2010, and the National Accreditation Board for Testing & Calibration Laboratories, since 2002. and has continued to earn the same after teaming up with MedGenome since 2018.
Associations
NABL and Cap Certificates
Carrier, Prenatal, Newborn
Karyotype, FISH, Microarray
PCR, QFPCR
NGS, Sanger
Chorionic villus sampling, Amniocentesis and Cord Blood Sampling
Disclaimer: The website is not intended to be a substitute for the medical advice of a physician/ geneticist.
for diagnosis or treatment of any medical or genetic condition or drug/supplement intake, consult a physician.