• The Department of Biotechnology (DBT) has created the national resource data of whole genome sequencing of 10,074 healthy individuals from 83 heterogeneous populations from 99 different sites under the Genome India project to create a library of genetic variations. 

• The data has been archived at the Indian Biological Data Center (IBDC), a national repository set up by DBT, Union Minister of State (Independent Charge) for Science and Technology Jitendra Singh said in a reply in the Lok Sabha on March 19.

• The IBDC will facilitate seamless access to valuable genetic information, enabling researchers to explore genetic variations and design more accurate genomic tools. 

What is Genome India Project?

• Genome India is a flagship project funded by the Department of Biotechnology, Ministry of Science and Technology.

• The project was launched in January 2020, with the ambitious goal to identify and catalogue the genetic variations of diverse Indian populations by sequencing the whole genome of 10,000 healthy individuals from 99 communities, representing all major linguistic and social groups, across the country. 

• The project is implemented through nationwide scientific collaboration and innovation involving 20 national institutes which included 4 sequencing centres; 13 sample collection centres; and 8 method development centres (with some centres playing multiple roles).

• The target of the project is to develop a reference genome for the population of India which will lead to a better understanding of the nature of diseases and specific interventions essential for various ethnic groups. 

• The study will help in designing genome-wide and disease-specific genetic chips for low-cost diagnostics and research.

• The consortium completed the whole genome sequencing of 10,074 individuals in January 2024.

• Under the project, the study has been carried out throughout the length and breadth of the country and ensured equitable sampling across linguistic, social, and regional groups in India. 

• Approximately, 36.7 per cent of the samples were collected from rural, 32.2 per cent from urban and 31.1 per cent from the tribal populations. 

• The data can be used for developing indigenous chips, diagnostics and therapeutics, benefitting healthcare system of the country and thus will contribute to the bioeconomy of the country. 

• The DBT has planned to fund translational research in which this dataset will serve as a template, thus maximising the benefits of the data generated under the Genome India project. 

• This data will be disseminated to the researchers under the provisions of the Biotech-PRIDE (Promotion of Research and Innovation through Data Exchange) Guidelines and ‘Framework for Exchange of Data (FeED) Protocols.

What is the project’s significance?

• India, with 1.4 billion population with prominence of several ethnic and linguistic groups along the vast geographical spread, has remarkable genetic diversity. 

• It is a treasure trove providing unique opportunity wherein we can document the genetic structure of the nation’s population and create a resource for researchers and clinicians that will help unravel the genetic underpinnings of chronic diseases currently on the rise in India, such as diabetes, hypertension, cardiovascular diseases, neurodegenerative disorders and cancer.

• Such a resource for the country will also help filter variations or mutations conferring risk of monogenic disorders.

• The information generated from whole genome sequencing can facilitate future human genetics research in the country with greater precision, and to design a genome wide association array for the Indian population to develop precision healthcare and diagnostics for major diseases at affordable costs.

• This digital public good will democratise data and become a valuable national resource, fostering large-scale human genetic studies and empowering nationwide research efforts by the Indian and even the global research community.

• This initiative is set to position India as a leader in genomics, enabling the development of genomic chips tailored to the Indian demographic, thereby enhancing the precision of genetic studies.

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