Context: GenomeIndia Project
- GenomeIndia is a government-funded pan-India initiative to catalogue the genetic diversity of the Indian population.
- It aims to build a comprehensivedatabase of Indian genomes to enhance understanding of:
- Genetic diseases
- Drug response variation
- Population structure
- Precision medicine potential
Relevance : GS 3(Science and Technology)
Key Findings of the Preliminary Study
- Sample Size:
- 20,000 individuals enrolled.
- 10,074 DNA samples sequenced (from 85 populations: 32 tribal + 53 non-tribal).
- Final analysis on 9,772 individuals (4,696 male + 5,076 female).
- Genome Diversity:
- 180 million genetic variants identified.
- Variants include:
- Rare variants
- Community-specific variants
- India-unique variants
- Disease-associated variants
- Variants influencing therapeutic response or resistance.
- Populations covered:
- Tribal groups: Tibeto-Burman, Indo-European, Dravidian, Austro-Asiatic.
- Non-tribal groups: Same linguistic categories.
- Admixed outgroup included for comparative insights.
- Data Storage:
- Genome sequence data housed at Indian Biological Data Centre, Faridabad, Haryana.
Scientific & Medical Significance
- Precision Medicine:
- Enables personalised treatment based on genetic makeup.
- Identifies people at risk for specific diseases → early interventions.
- Disease Detection:
- Facilitates development of low-cost diagnostics.
- Improves detection of hereditary conditions (e.g., thalassemia, cancer predisposition).
- Drug Response:
- Predicts how different groups respond or react adversely to medications.
- Enhances pharmacogenomics (customized drug treatment plans).
- Public Health:
- Informs targeted vaccination and therapy strategies in epidemiology.
- Can reduce trial-and-error treatment, especially in chronic and rare diseases.
Scientific Methodology & Rigour
- Whole Genome Sequencing (WGS) used — gives high-resolution genetic insights.
- Median sample:
- 159 per non-tribal group, 75 per tribal group.
- Sufficient for identifying rare, population-specific variants.
- Integrates genomic data with biochemistry & anthropometric parameters — unique approach in India.
Way Forward
- Upcoming detailed paper to give deeper insight into disease linkages.
- Development of India-specific genomic risk scores.
- Public-private collaborations for translating genetic insights into affordable diagnostics.
- Integration into Ayushman Bharat Digital Mission or National Health Stack.
