Daijiworld Media Network – New Delhi

New Delhi, Apr 30: More than seven decades after the discovery of DNA as the blueprint of life, India is stepping up efforts to unlock its vast genetic diversity through the GenomeIndia Project, a flagship initiative aimed at advancing personalised medicine and improving disease understanding.

Launched in 2020 by the Department of Biotechnology, the GenomeIndia Project brings together a consortium of 20 leading institutions to map the genetic diversity of the Indian population. As of 2025, nearly 20,000 samples have been collected from healthy individuals, with close to 10,000 already genotyped, covering 83 population groups including tribal and non-tribal communities across major linguistic families.

Researchers say the project is crucial as India remains underrepresented in global genomic studies despite its immense diversity. Findings from the initiative indicate that both genetic and socio-cultural factors, such as ethnolinguistic differences, significantly influence health outcomes.

Recent data has shown variations in metabolic disease risk across population groups. For instance, patterns typically observed globally—such as higher levels of protective cholesterol (HDL) among women—are not seen in certain tribal populations in India. Experts say such insights underline the need for tailored healthcare strategies rather than a uniform approach.

India’s complex genetic history, shaped by ancient migrations, founder effects and social practices like endogamy, has also led to higher prevalence of certain inherited disorders in specific communities. This makes the creation of population-specific genetic databases critical for early diagnosis and targeted screening.

Globally, genomic research remains skewed, with over 86 per cent of genome-wide association study (GWAS) data derived from individuals of European ancestry. South Asian representation stands at less than one per cent, limiting the applicability of such data to Indian populations.

Health experts emphasise that genomics can transform clinical care by enabling personalised treatment based on an individual’s genetic profile. This includes improving drug efficacy, reducing adverse reactions and guiding therapies for genetic conditions such as sickle cell disease, which has a significant burden in India.

Advances in DNA sequencing, bioinformatics and artificial intelligence are expected to accelerate this transition, making precision medicine more accessible. The GenomeIndia Project, officials say, marks a major step towards integrating genomics into mainstream healthcare.

Experts believe that expanding genomic datasets and ensuring wider representation will be key to developing equitable and effective healthcare solutions tailored to India’s diverse population.