Why in news?

Prime Minister Narendra Modi announced the completion of the Genome India Project, describing it as a significant achievement in India's biotechnology revolution.

In a video message addressed to the Genomics Data Conclave, hosted by the Department of Biotechnology, PM Modi also unveiled the sequencing database of 10,000 Indians. The sequencing data will now be accessible to researchers through the Indian Biological Data Centre (IBDC).

What’s in today’s article?

• What is Genome sequencing?
• What is Genome India Project?
• How does studying the genetic makeup of the country help?
• Genome data of 10k Indians available for research

What is genome sequencing?

• Human genome
  • The human genome is the entire set of deoxyribonucleic acid (DNA)residing in the nucleus of every cell of each human body.
  • It carries the complete genetic information responsible for the development and functioning of the organism.
  • The DNA consists of a double-stranded molecule built up by four bases – adenine (A), cytosine (C), guanine (G) and thymine (T).
  • Every base on one strand pairs with a complementary base on the other strand (A with T and C with G).
  • In all, the genome is made up of approximately 3.05 billion such base pairs.
• Genome sequencing
  • While the sequence or order of base pairs is identical in all humans, there are differences in the genome of every human being that makes them unique.
  • The process of deciphering the order of base pairs, to decode the genetic fingerprint of a human is called genome sequencing.
  • In other words, Genome sequencing is the process of determining the complete DNA sequence of an organism's genome.
  • There are several methods of genome sequencing, but the most common is called next-generation sequencing (NGS).
  • NGS allows for rapid, accurate, and cost-effective sequencing of large amounts of DNA.
• Human Genome Project (HGP)
  • In 1990, a group of scientists began to work on determining the whole sequence of the human genome under the Human Genome Project.
  • The project released the latest version of the complete human genome in 2023, with a 0.3% error margin.
  • The process of whole-genome sequencing, made possible by the Human Genome Project, now facilitates the reading of a person’s individual genome to identify differences from the average human genome.
  • These differences or mutations can tell us about each human’s susceptibility or future vulnerability to a disease, their reaction or sensitivity to a particular stimulus, and so on.

What is Genome India project?

• About
  • Approved in 2020, the Genome India Project aims to create a comprehensive catalogue of genetic variations within the Indian population.
  • Sanctioned by the Department of Biotechnology, project aims to sequence the genomes of over 10,000 Indians from different regions of the country and establish a reference genome for the Indian population.
• Significance
  • To learn about genetic variants unique to the Indian population
    • This project allows researchers to learn about genetic variants unique to India’s population groups and use that to customise drugs and therapies.
    • This will help unravel the genetic underpinnings of chronic diseases currently on the rise in India, for example, diabetes, hypertension, cardiovascular diseases, neurodegenerative disorders, and cancer.
  • Database for 1.4 billion population
    • India’s 1.4 billion-strong population consists of over 4,600 population groups, many of which are endogamous.
    • This has preserved unique genetic traits within communities. This, in turn, can help compare and contrast the impact of genetic variations on physical health. 

How does studying the genetic makeup of the country help?

• Understanding Genetic Risk Factors for Diseases
  • Studying India's genetic makeup can help identify genetic risk factors for diseases. For instance:
    • The MYBPC3 mutation, linked to cardiac arrest at a young age, is found in 4.5% of the Indian population but is rare globally.
    • The LAMB3 mutation, causing a lethal skin condition, affects nearly 4% of the population near Madurai and is absent in global databases.
• Advancing Targeted Treatments
  • An Indian genome database can aid in the development of targeted therapies, particularly for rare genetic diseases. Examples include:
    • mRNA vaccines for pancreatic cancer, developed based on specific genetic mutations.
    • New therapies to treat genetic diseases unique to Indian populations.
• Enhancing Drug Efficacy and Safety
  • Genetic studies can identify resistance-indicating variants, ensuring safer and more effective treatments.
  • Certain Vaishya community members in South India lack a gene for processing common anaesthetics, leading to potentially fatal outcomes if these drugs are used.

Genome data of 10k Indians available for research

• About the news
  • The Genome India Project has sequenced the genomes of 10,000 Indians from 99 distinct populations, producing 8 petabytes of data stored at the Indian Biological Data Centre.
• Access and Security of the Data
  • A framework for sharing this highly sensitive dataset was released by the Department of Biotechnology:
    • Managed Access: Data will only be available to research institutes partnering with the department. Researchers must submit proposals and collaborate to access the database.
    • Anonymisation: Genetic data is encoded at multiple stages to ensure privacy and prevent breaches of anonymity.
• Future Impact
  • The project will facilitate personalized medicine development, ensure treatments are tailored to India’s genetic diversity, and strengthen the biotechnology and biopharma sectors.