The Department of Biotechnology (DBT), Government of India, has officially completed Phase 1 of the GenomeIndia Project, successfully sequencing over 10,000 whole genomes from individuals representing all major population groups across the country. This milestone, announced in early 2025, creates a foundational, indigenous database aimed at advancing precision medicine and understanding the genetic diversity of the Indian population.
Key Achievements and Data
- Total Samples Sequenced: 10,074, spanning 99 distinct ethnic/population groups.
- Unique Genetic Variants: The project identified 180 million genetic variants, with 7 million novel variants that are unique to the Indian population and not found in global databases.
- Data Storage & Availability: The data is archived at the Indian Biological Data Centre (IBDC) in Faridabad. As of January 2025, it includes Fastq files of over 9,700 samples (~700 TB), gVCF files (~35 TB), and associated phenotypic data.
- Biobank: A biobank containing 20,000 blood samples has been established at the Centre for Brain Research (CBR), IISc, for future research.
Significance for India
- Ending Foreign Data Dependency: The project allows India to build its own reference genome, reducing reliance on European-centric data for clinical treatments.
- Precision Medicine: The data enables the study of rare diseases, genetic predispositions to illnesses like cardiovascular disease (e.g., the high prevalence of the MYBPC3 mutation in India), and targeted treatments tailored to Indian populations.
- Ethical Data Sharing: The dataset is made available to researchers globally via the IBDC portal, governed by the Biotech-PRIDE (2021) and FeED protocols.
Project Background
Launched in 2020 and led by the Centre for Brain Research (CBR) at the Indian Institute of Science (IISc), Bengaluru, the GenomeIndia Project brings together over 20 leading national institutions, including the Centre for Cellular and Molecular Biology (CCMB) and the National Institute of Biomedical Genomics (NIBMG).
The project has found that India’s unique population structure—comprising over 4,600 groups, many of which are endogamous (marrying within the community)—contributes to high levels of genetic variation, which has profound implications for health and disease.
The government has indicated that future efforts may aim to scale this to 1 million genomes.
