What is GenomeIndia?

GenomeIndia, a visionary national project funded by the Department of Biotechnology, Government of India, was launched in January 2020.Its ambitious goal is to sequence 10,000 genomes from healthy Indian individuals spanning the length and breadth of the country.

The primary aim of GenomeIndia is to construct a comprehensive catalogue of genetic variations for India’s population that will better capture our unique diversity. This initiative is not just about decoding our genes; it is about creating a detailed reference that encapsulates the Indian population’s genetic makeup and enables a deeper understanding of its diversity.

The GenomeIndia project will create a precious national resource for India’s public health. This effort has the potential to revolutionise healthcare, empowering basic researchers and clinicians, leading to transformative precision interventions. GenomeIndia, therefore, is an important step towards a healthier nation.

Who is involved?

The working consortium is represented by 20 national institutes across the country.

About 1 in 1000 positions differ between any two individuals on average, resulting in diverse genetic codes. These genetic variations among individuals affect our disease risks, and also determine a person’s responses to drugs. Understanding these genetic nuances is key to deciphering people’s predispositions to certain diseases and designing effective treatments for these. A reference set of genetic variants highlighting uniqueness of the Indian population will lead to a better understanding of the nature of diseases. It will open doors to specific interventions essential for diverseethnic groups, thereby paving the way for more targeted and effective healthcare solutions.

The instruction manual for our life, the human genome, is made up of DNA, represented by four letters A, C, G, and T. This genetic script, making up the human genome, extends across a staggering three billion such letters. Housed within the cells of our body, our genomes manifest as 23 pairs of chromosomes. In the intricate phenomenon of heredity, we inherit our genomes from our parents. Half our DNA is from our mothers, and half is from our fathers. This genetic inheritance orchestrates the very essence of our being.

  •   Develop a reference set of genetic variations for Indians by carrying out whole genome sequencing of 10000 samples from 99 communities.
  •   Develop a biobank of 20000 blood samples for future genome analyses.
  •   Make available genomic data for public access (digital public goods) for research purposes through IBDC.
  •   Design genome-wide and disease-specific genetic chips for low-cost diagnostics and research.
  •   First big step towards developing genome-based precision medicine in India.
  •   An inspiration for India’s young minds and young researchers to explore the exciting area of genomics research and innovation for the health of Indian population.
  •   Collected more than 19000 blood samples against a target of 20000. These valuable samples are available in the GenomeIndia Biobank, as a reservoir for future research breakthroughs.
  •   Achieved the milestone of completing whole-genome sequencing of 10074 samples covering 99 ethnic groups.
  •   Sequencing data for all these samples is securely archived at IBDC.
  •   As part of Phase 1 analysis, we have analyzed (technically called joint genotyping) 5750 samples, unravelling unique facets of the genomic structure of Indians. Within this genomic treasure trove, we have uncovered a wealth of rare variations unique to our populations or specific subsets, reflecting our unique population history and diversity.
  •   After conducting detailed quality checks of each of the 10075 sequence file, we had considered 9871 of them for joint genotyping. The quality checks and detailed analysis on this joint callset is currently underway.
  •   Beyond the scientific revelation, many of these genetic variations will have clinical significance, leading to targeted clinical interventions for specific sub-groups. The genetic roadmap holds the promise of precision medicine and will potentially transform the landscape of clinical care for the benefit of common people.
  •   Joint calling of 10000 genomes (joint genotyping) and comprehensive analysis of the resulting data to obtain India-specific insights.
  •   Development of a reference genome for the Indian population.
  •   Archival of all data at IBDC and making the digital public goods available for academic/ research purposes.
  •   Design of genome-wide and disease-specific genetic chips for low-cost diagnostics and research activities.
  •   Production of a flagship manuscript from the GenomeIndia Consortium for worldwide dissemination of the research findings.
  •   Completion of a multitude of scientific investigations through specialized working groups, leveraging the dataset of genetic variations.