Other States

Experts call for greater awareness of genetic health, disorders

Dr. Hema Purandarey (left) with Dr. V.L. Ramprasad and Dr. Priya Kadam at a panel discussion on genetic health in Mumbai

Dr. Hema Purandarey (left) with Dr. V.L. Ramprasad and Dr. Priya Kadam at a panel discussion on genetic health in Mumbai  

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Emphasise on efforts in rural areas, screening and counselling, and need for government initiatives

Creating awareness of genetic health, especially in rural areas, and early diagnosis and counselling are extremely important to tackle genetic disorders, experts said at a panel discussion here.

During the discussion, Dr. Hema Purandarey, founder-director, Centre for Genetic Health Care (CGHC); Dr. Priya Kadam, programme director, MedGenome, a genomics-based research and diagnostic company; and Dr. V.L. Ramprasad, chief operating officer, MedGenome spoke about genetic disorders and the severity of medical conditions caused by them.

MedGenome also announced during the discussion on Saturday that it has taken over the management and operation of the CGHC in Mumbai, and plans to set up genetic health labs across the city.

Dr. Purandarey said, “Genetic disorder is not always a birth disorder; it is multi-disciplinary. What we do here is focus on prevention and detection, and providing counselling pre- and post-detection.”

She also spoke about her struggle in setting up a genetic diagnostic facility in India and how she started it as a Birth Defect Centre, which later turned into a full-fledged centre providing counselling and diagnosis.

“We also started genetic services in rural areas, educating them about [genetic health], and started training and collaborating with local medical doctors. This helped us in our research, categorising regions from the data we gathered from these camps based on most common genetic deformities that prevailed in the particular area,” Dr. Purandrey said. For instance, the most common genetic disorders in the Sindhudurg region in Maharashtra are clubfoot and chromosomal disorders.

Talking about Down Syndrome and thalassaemia, which are the most common genetic disorders in the country, Dr. Purandrey said, “[Intellectual disability] is preventable if the diagnosis is done at birth. With appropriate genetic counselling, [the patients] can have a good life too.”

She named one of her patients, Gauri Gadgil, as an example. Ms. Gadgil went on to win a silver medal twice at the Special Olympics and the National Award for Empowerment of Persons with Disabilities.

Speaking about the common conception about genetic disorders in India, Dr. Ramprasad said, “Spreading awareness of these issues is a must, especially in rural areas. People think it’s some sort of curse on their family instead of trying to understand the medical aspect of it. Although the State and Central government have started many programmes to prevent infant death, genetic diseases and related deaths are still not a priority.”

He said endogamy and consanguineous marriage practices, still prevalent, increase the risk of children born with genetic disorders.

“Any person who marries a total stranger with no relations to their community has a 1% risk of their babies being born with a genetic disorder. But marrying in one’s own community, which basically comes from the same genetic pool, increases the risk to 6-7%,” Dr. Ramprasad said.

Dr. Kadam said there is no specific time to undergo genetic testing. “Genetic screening and counselling will help people make informed decisions, be it a pregnant mother or soon-to-be married partners,” she said.

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Printable version | Dec 9, 2019 6:04:45 PM | https://www.thehindu.com/news/national/other-states/experts-call-for-greater-awareness-of-genetic-health-disorders/article25364875.ece

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