India has completed whole‑genome sequencing of 10,000 individuals to create a reference set that will improve disease diagnosis, guide drug choices, and launch precision medicine efforts.
India’s Department of Biotechnology began the GenomeIndia Project in January 2020 to fill a critical gap in global genomics studies, which have long relied on data from European populations. By sequencing the genomes of 10,000 volunteers drawn from 83 distinct communities—covering Indo‑European, Dravidian, Austro‑Asiatic and Tibeto‑Burman languages across five geographic regions—the project has captured genetic variants unique to India. Researchers collected blood samples from about 160 unrelated individuals in each non‑tribal group and 75 in each tribal group, ensuring that the data reflect the country’s ethnic and geographic diversity.
In January 2025, teams from over 20 institutions, including CSIR‑CCMB, AIIMS and the National Institute of Biomedical Genomics, published their initial findings in Nature Genetics. They reported millions of genetic differences previously unrecorded in global databases. Those variants include changes linked to cholesterol metabolism, cancer risk and how the body breaks down medicines. This information will guide how doctors diagnose inherited disorders, predict which drugs will work best, and spot disease risk before symptoms appear.
Kumarasamy Thangaraj of CSIR‑CCMB explained that the project’s selection of communities and its sample size may cover only a small fraction of India’s 1.4 billion people, but the framework will support much larger studies. He said the next step is to pair the sequenced genomes with health records and clinical tests such as blood chemistry and body measurements. Once that full dataset is ready—expected later this year—scientists will look for links between specific gene changes and disease traits or drug responses. They will share the data through the Indian Biological Data Centre so labs across the country can use it.
With a reference genome rooted in India, genetic tests used by hospitals and clinics will become more accurate. Currently, many genetic screening tools flag “unknown” or give unclear results because they rely on European‑based data. GenomeIndia will reduce those unknowns, helping more patients receive clear answers. It will also support research on rare conditions such as thalassemia or spinal muscular atrophy, where knowing how often certain mutations occur can shape screening programs and public health policies.
The project follows models like the UK Biobank but focuses on the subcontinent’s ancient, diverse gene pools. Genes in India carry traces of migrations, isolation and adaptation over tens of thousands of years. By mapping those patterns, scientists hope to discover gene changes tied to resistance or susceptibility to diseases common in India, such as diabetes and heart disease. That knowledge may point to new treatments or lifestyle guidelines tailored to Indian patients.
Government support covers both the sequencing and the computing power needed to handle the huge datasets. Costs of sequencing have fallen enough that running such a project is now feasible here. The next challenge will be translating the raw data into clinical tools: designing gene panels for hospital labs, running trials to confirm drug‑response predictions, and training doctors in genomics. Private labs and startups are already discussing partnerships to build testing kits and software.
When the in‑depth analysis appears in a peer‑reviewed journal, researchers hope it will mark the true start of precision medicine in India. With a genome reference built on local data, doctors can move from one‑size‑fits‑all treatments to care plans based on each patient’s unique genetic profile. That shift promises better outcomes, fewer side effects and a more efficient use of resources. It will also lay the groundwork for future studies into how genes and environment interact, whether in rural villages or urban centres, and how diet, pollution and lifestyle shape health in genetically diverse populations.
