Policy Update
Anto Mariya M M
Background
The Genome India Project (GIP) was launched in January 2020 by the Department of Biotechnology under the Ministry of Science and Technology. The purpose of the Genome India Project is to map the genetic diversity of the people of India. The project’s ambition is to curate a rich and comprehensive catalogue of genetic variations of the Indian population. The need for it arises from the population groups of India being largely endogamous, resulting in genetic variations and harmful, disease-causing mutations.
The Genome India Project is the Indian equivalent of the Human Genome Project, which was a global-level effort to map human genomes. The global exercises often underrepresent the Indian population groups. The genomic dataset becomes valuable in understanding the genetic identity of Indians and provides information on the evolutionary history and migratory patterns of the population groups in India. It has far-reaching implications in the health industry, like personalised medicine and faster and more efficient diagnostics. GIP has the potential to revolutionise the health and biotechnology sectors of the country.
Functioning
The Genome India Project, funded by the Department of Biotechnology, has collected samples from 10,000 healthy and unrelated individuals. The dataset has been drawn from 83 population groups. It has been represented equitably, with 36.7% of the samples collected from rural, 32.2% from urban and 31.1% from tribal populations. Collecting samples from the tribal population has been difficult due to remote location, lack of awareness and logistical constraints. However, this has been overcome by efforts to educate the people of tribal areas about the importance of genetic studies and assuring them of data confidentiality.
Twenty Indian academic and research institutions and more than 100 scientists were involved in this process. The Genome India database is stored at the Indian Biological Data Centre (IBDC) in Faridabad, Haryana. Biotech-PRIDE Guidelines ensure ethical and secure data sharing. The ‘Framework for Exchange of Data (FeED)’ Protocols have also been put in place to govern the sharing of data. The preliminary findings of GIP have been published in the Nature Genetics journal. The full results have not been published yet, as the analysis is still ongoing. An initial analysis of the genomes has estimated around 27 million low-frequency variants and 7 million of them are rare variants, not found in similar reference databases anywhere else in the world.
Performance
While human genome sequencing was conducted in 2006, the Genome India Project is the largest and most comprehensive genome sequencing exercise in the country. The genomes of India’s four prominent linguistic families — Indo-European, Dravidian, Austro-Asiatic, and Tibeto-Burman were sequenced. GIP’s genome database represents 83 population groups, which is 2% of the 4,600 population groups prevalent in India. The project has been completed in 5 years despite the challenges posed by the COVID-19 pandemic. The dedicated endeavour has transformed the genomic landscape of the country. Data is securely stored at the Indian Biological Data Centre (IBDC), protected by anonymity and encryption.
The national genetic resource knowledge is made available to researchers across the country and the globe via access channels. It is poised to deliver medical breakthroughs by aiding research endeavours in genetics and medicine. The major outcomes of this ambitious programme would be to provide deeper insights into India’s population diversity, improve diagnostic methods, develop personalised and customisable drugs, predict disease risks and improve gene therapy.
Impact
GIP could potentially reshape the healthcare and medical field in the country. It facilitates cutting-edge research in genomics as well as an impact on biotechnology and the bio-economy of India.
The applications of the study of the genetic diversity of the Indian population lie predominantly in medicine and healthcare. Mainly, it helps in precision medicine, disease risk prediction and personalized drugs and therapies, leading to more efficient diagnosis. Personalized medicine offers a tailor-made solution to a disease in a patient. Identifying genetic predispositions to disease could result in population-specific drugs. For instance, diabetes is widely prevalent in the Indian population, and the genetic makeup of the population could be a reason for this. There are more such diseases where a general treatment may not be effective due to genetic variation; thus, a measure like GIP becomes beneficial.
Pharmacogenomics examines how genetic variations influence an individual’s biological response to drugs. As our genes impact our metabolism and response to medications, pharmacogenomics is essential. Thus, the rich catalogue of genetic variations developed by GIP remains crucial.
Researchers can access the Genome India database to be involved in genomics research. By drawing connections between genetic variations and disorders, various medical and scientific breakthroughs can be achieved.
- Self-Reliance in Genomics
India now has its own genomic dataset. The country is moving towards self-reliance in the genomics field and is no longer dependent on genomic data from foreign sources.
Emerging Issues
The impact of genome sequencing of Indian population groups has been momentous. But issues regarding data security, the representative nature of the dataset and logistical constraints have been pointed out in such an endeavour.
Ethical concerns regarding sensitive genomic data sharing, data security, and privacy have been raised. The prevalence of Artificial Intelligence exacerbates this threat in genomic data.
- Lack of Representative Diversity
India, with a population of 1.4 billion, consists of 4,600 population groups. Some argue that sequencing the genomes of 10,000 individuals does not adequately represent the genetic diversity of the Indian population.
Concerns about reinforcing genetic stereotypes are emerging. The misuse of genome data for discriminatory purposes could be an issue. It could fuel divisive politics and social problems.
The project only studied a small fraction of the population groups in India. Studying the entire population group is cost-intensive. There are also logistical issues attached to such a mapping effort.
Way Forward
The Genome India Project is the largest genome sequencing effort in the country, funded by the Department of Biotechnology and in collaboration with twenty research institutions in the country. The exercise to map the genetic diversity of India can be used to develop health policies and targeted interventions. Precision medicine can evolve with the genomic data set, where population-specific drugs and personalised drugs can be developed in place of generalised treatment. Notable contributions to pharmacogenomics can revolutionise healthcare in the country. While only 10,000 whole genomes were sequenced, the way forward would be to expand the database to a million, where greater insights can be derived.
The next phase of Genome India must expand sequencing efforts to include disease-specific studies, focusing on rare disorders, cancer, lifestyle diseases, and neurological conditions. The Genome India project has far-reaching implications for health and medical science, but it also raises ethical concerns regarding data sharing and privacy. Therefore, striking a balance between scientific progress and ethical safeguards is crucial.
Reference
Genome India. (n.d.). https://genomeindia.in/
Press Information Bureau. (2025, April 30). GenomeIndia. Government of India. https://www.pib.gov.in/PressReleasePage.aspx?PRID=2125504
Ghosh, S. (2025). Inside India’s largest genomic vault. Nature India. https://doi.org/10.1038/d44151-025-00024-2
Press Information Bureau. (2025, January 9). India takes a giant leap in genomics: Launch of Indian Genomic data set & IBDC portals to empower global research. Government of India. https://www.pib.gov.in/PressReleasePage.aspx?PRID=2091577
Koshy, J. (2025, January 9). 10,000 human genomes database launched. The Hindu. https://www.thehindu.com/sci-tech/science/10000-human-genomes-database-launched/article69081500.ece
Panda, B. (2025, April 14). With GenomeIndia, population-scale genomics comes of age in India. The Hindu. https://www.thehindu.com/sci-tech/science/with-genomeindia-population-scale-genomics-comes-of-age-in-india/article69448548.ece
Sinha, A. (2025, April 15). Why Genome India Project matters. The Indian Express. https://indianexpress.com/article/explained/explained-sci-tech/genome-india-project-9938889/
Press Information Bureau. (2025, February 6). “The GenomeIndia project, under Department of Biotechnology, ensures equitable representation in sample collection” says Science and Technology Minister Dr. Jitendra Singh. Government of India. https://www.pib.gov.in/PressReleasePage.aspx?PRID=2100258
About the Contributor
Anto Mariya M M is currently pursuing her postgraduate degree in Political Science at Madras Christian College. She is a research intern at Impact and Policy Research Institute (IMPRI).
Acknowledgement
The author sincerely thanks Ms Aasthaba Jadeja and the IMPRI team for their valuable support.
