Genome India Project

The Genome India Project aims to create a detailed map of the genetic diversity of India by sequencing the genomes of individuals from across the country. Recently, the Department of Biotechnology launched a new platform to share the data of 10,000 human genomes, which includes healthy individuals from 99 ethnic groups. This dataset will help researchers understand India’s unique genetic makeup, and future plans include sequencing up to 1 million genomes.

What is Genome Sequencing?

• The human genome is the complete set of genetic information that decides how our body functions and develops.
• It contains instructions for everything from our height and eye color to diseases we may inherit or are prone to.
• Genome sequencing is the process of reading and decoding the genetic material (DNA) from a sample, usually blood.
• The DNA is cut into smaller pieces, and each piece is sequenced. These pieces are then put together to form a complete genome, much like assembling a jigsaw puzzle.

What is the Genome India Project?

• India has over 4,600 distinct populations, and the Genome India project was started to capture this genetic diversity at a national level.
• The project began in 2020, and 20 scientific institutions have worked together to sequence the first 10,000 genomes. The project is aimed at creating a resource that can help in understanding how genes impact diseases, health, and medicine.
• This initiative is an effort to create a baseline genetic map that reflects India's unique genetic makeup, unlike global databases.

Why is this Project Important?

• Disease Prevention and Treatment: Understanding genetic factors that contribute to diseases can help create targeted treatments and diagnostic tests. For example, certain gene therapies can be developed to modify, delete, or add genes to treat diseases, which requires a genetic map like this.
• Identifying Unique Genetic Variants: The project has already identified 135 million genetic variations, of which 7 million are unique to India and not found in global databases. This helps in understanding diseases specific to Indian populations.
• Understanding Disease Prevalence: Population-level sequencing can reveal how common certain genetic mutations are in India. For example:
  • MYBPC3 mutation: Linked to early heart failure, found in 5% of Indians, but rare globally.
  • LAMB3 mutation: Causes a lethal skin condition, found in 4% of people near Madurai, but not seen globally.
• Identifying Rare Diseases: The project can help identify rare diseases found in specific Indian populations, enabling the development of gene therapies to treat them.
• Drug Resistance: It may help identify genetic variations that make some people resistant to certain medicines, like anaesthetics. For example, a group in South India lacks a gene to process common anaesthetics, which can lead to severe reactions or even death.

Global Context

• This project is part of a global effort to map human genomes. For example:
  • The Human Genome Project (2003) mapped the first human genome.
  • The 1,000 Genomes Project (2012) sequenced genomes of 1,092 people.
  • The UK Biobank sequenced 100,000 genomes by 2018.
  • Europe’s Million Genomes project aims to sequence 1 million genomes across 24 countries.