Understanding India’s genetic diversity key to health outcomes

India is one of the world's most genetically diverse regions, with over 1.4 billion people across thousands of communities. The Hindu reports that ancient migrations, mixing, and long-standing practices of endogamy and consanguineous marriage have created a unique genetic mosaic where no single Indian genome exists. This diversity has direct medical consequences: inherited diseases, drug responses, and disease risk prediction vary significantly across communities.

The Hindu explains that endogamy and consanguinity increase the chance of recessive disease variants being passed down, leading to community-specific patterns of disorders like sickle cell disease, thalassaemia, and certain metabolic conditions. Researchers have identified that most genetic variation in Indians stems from a single out-of-Africa migration about 50,000 years ago, followed by interbreeding with Neanderthals and Denisovans, and subsequent mixing between Ancestral North Indians and Ancestral South Indians.

The outlet emphasises the need for genetic counselling alongside testing to prevent stigma and misunderstanding. India remains underrepresented in global genomic studies despite its diversity, prompting researchers to call for more comprehensive population-specific studies to guide screening, counselling, and care.