UPSC CURRENT AFFAIRS – 09th April 2025
Genome study: 180 million genetic variants found in 9,772 individuals
Why in News?
Preliminary findings of the Genome India project, which genotyped 10,074 healthy and unrelated Indians from 85 populations — 32 tribal and 53 non-tribal populations — across India.
Introduction
- The Genome India Project, a pan-India initiative aimed at cataloguing the genetic diversity of the Indian population, achieved a significant milestone with the preliminary findings published in Nature Genetics on April 8, 2025.
- This project marks a major step forward in India’s efforts to enable personalised medicine, improve disease diagnostics, and enhance our understanding of population genetics and genome-disease linkages.
What is the GenomeIndia Project?
- The Genome India Project is a multi-institutional collaborative initiative launched by the Department of Biotechnology (DBT), Ministry of Science and Technology.
- The project involves 20 institutions across the country and is inspired by global efforts like the Human Genome Project.
Objectives
- Catalogue the genetic diversity of India’s population.
- Identify rare and common genetic variants that influence susceptibility or resistance to diseases.
- Facilitate the development of low-cost diagnostics and precision medicine.
- Enable a national reference database for genomics-based healthcare.
Preliminary Findings (April 2025)
Sample Collection and Sequencing:
- Blood samples collected from ~20,000 individuals across India.
- Whole Genome Sequencing (WGS) done for 10,074 individuals from 85 populations (32 tribal and 53 non-tribal).
Final dataset based on 9,772 individuals after data quality filtering:
- 4,696 male, 5,076 female participants.
- Sequencing done by premier institutions like IISc Bengaluru, CSIR-CCMB Hyderabad, IGIB Delhi, NIBMG Kolkata, and GBRC Gandhinagar.
- Data stored at the Indian Biological Data Centre (IBDC), Faridabad.
Genetic Variants Identified:
- 180 million genetic variants found in total:
- 130 million in autosomes (non-sex chromosomes)
- 50 million in sex chromosomes (X and Y)
These include:
- Disease-associated variants
- Rare variants
- India-specific and community-specific variants
Population Coverage:
- Tribal Groups: Tibeto-Burman, Dravidian, Indo-European, Austro-Asiatic, and continentally admixed outgroup.
- Non-Tribal Groups: Tibeto-Burman, Dravidian, and Indo-European lineages.
Applications and Significance
- Public Health and Diagnostics:
- Information on genetic predisposition to diseases (e.g., cardiovascular, diabetes, cancers).
- Enables low-cost diagnostic kits tailored to Indian genomes.
- Precision Medicine:
- Identification of gene-drug interactions.
- Predicts therapeutic responses and adverse drug reactions.
- Helps in crafting customised treatment regimens.
- Infectious Disease Research:
- Variants linked to susceptibility or resistance to infections (e.g., COVID-19, TB, malaria).
- Insights into immune response diversity among populations.
- Environmental Adaptation:
- Some variants suggest adaptation to high altitudes (e.g., in Himalayan tribes).
- Others may show adaptation to low oxygen or extreme environments.
- Rare Disease Identification:
- India’s high endogamy rate has led to unique disease-causing mutations in isolated populations.
- GenomeIndia helps in building a reference panel for rare diseases.
Challenges and Way Ahead
- Ethical concerns regarding data privacy and genetic discrimination.
- Need for inclusive participation from all socio-cultural regions.
- Integration of genetic data with electronic health records for practical applications.
- Capacity-building in bioinformatics and genomic medicine.
- Launch of public awareness campaigns to encourage genome literacy.
Conclusion
- The Genome India Project marks a transformative step for Indian biomedical research.
- By revealing the rich tapestry of India’s genetic heritage, it paves the way for revolutionising healthcare delivery, ensuring equity in health research, and establishing India as a leader in genomic science.
- As analyses continue and the final dataset expands, the project will form the backbone of a genomics-driven healthcare ecosystem in India.
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