Genome India Project 

Source: This post on Genome India Project has been created based on “What is the Genome India project, why it matters” article published in The Indian Express on 14th January 2025.  

UPSC Syllabus topic: GS Paper 3- Science and technology  

Context: The article highlights the significance and scope of the Genome India Project, an ambitious national initiative aimed at creating a comprehensive genetic map of India’s diverse population. Launched in 2020 by the Department of Biotechnology, this project involves sequencing the genomes of 10,000 individuals from 99 distinct ethnic groups in its initial phase. The effort is driven by India’s rich genetic diversity, comprising over 4,600 distinct populations, which is both a scientific asset and a challenge. 

What is the Genome India Project? 

1. The Genome India Project is an initiative launched by the Department of Biotechnology in 2020 to map India’s genetic diversity.  
2. It involves sequencing the genomes of 10,000 healthy individuals from 99 ethnic populations, creating a baseline map of India’s genetic variations.  
3. The project aims to expand and sequence up to 1 million genomes in the future. 

What is genome sequencing? 

1. Genome sequencing deciphers the complete set of genetic instructions (DNA) in an organism.  
2. The human genome comprises 3 billion base pairs represented by A, C, G, and T. Researchers extract genetic material from samples like blood, break it into smaller pieces, and sequence them. 
3. These pieces are then reassembled to create the complete genome, much like assembling numbered parts of furniture. 

Why does the Genome India Project matter? 

1. Disease research and therapies: It helps identify genetic risk factors for diseases and enables the development of therapies targeting specific genes. 
2. Discovery of new genetic variants: Identified 135 million genetic variations, including 7 million unique to India.These variants are not present in global databases, highlighting India’s genetic uniqueness. 
3. Population-level insights: It determines the frequency of disease-causing mutations. Example: The MYBPC3 mutation, leading to early cardiac arrest, is found in 4.5% of Indians but is globally rare. 
4. Rare disease identification and gene therapy development: Unveils mutations like LAMB3, found in 4% of a population near Madurai, causing lethal skin conditions. 
5. Drug resistance and precision medicine: Identifies genetic resistance to medicines or anaesthetics, like in South India’s Vaishya community, where certain anaesthetics can cause severe complications. 

What will the second phase of the Genome India Project involve? 

The second phase will focus on sequencing genomes of individuals with specific diseases to compare with healthy genomes. This will help: 

1. Identify genetic causes or predispositions for diseases such as cancer, diabetes, and neurological disorders. 
2. Study genetic changes associated with diseases. 
3. Develop targeted therapies and diagnostic tools for rare diseases found in Indian populations. 

How will the data be shared? 

The genomic data will be available to Indian researchers through managed access: 

1. Only research institutions collaborating with the Department of Biotechnology will have access. 
2. Scientists must submit proposals and receive government funding. 
3. The data will be double-blinded to ensure anonymity: Samples are encoded at collection and further encoded when shared. 

How does the Genome India Project compare to global efforts? 

1. The Human Genome Project (2003) was the first global initiative to sequence the entire human genome. 
2. Other projects include: 
3. 1,000 Genomes Project (2012): Sequenced 1,092 genomes. 
4. UK’s 100,000 Genomes Project (2018): Focused on health-related genome research. 
5. European 1+ Million Genomes Initiative: Aimed at sequencing genomes across 24 countries. 
6. The Genome India Project is a critical step toward addressing India’s unique genetic diversity and public health challenges.