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Genome India Project
Context:
The Department of Biotechnology recently announced a platform and framework for sharing its dataset of 10,000 human genomes, created as part of the Genome India Project.
What is Genome Sequencing?
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- The human genome is an instruction manual inherited from parents, containing the genetic information that determines physical traits and predispositions to diseases.
- It is written using four letters (A, C, G, T) that represent the bases forming 3 billion base pairs in the complete genome.
- Process of sequencing: Genetic material is extracted from blood and cut into smaller, tagged fragments. A sequencer decodes these fragments, which are then assembled into a complete genome using the tags.
About Genome India Project:
- Approved in 2020, the project involves 20 scientific institutions collaborating to sequence 10,000 genomes.
- Diverse Representation: Initially, the project completed the sequencing of 10,000 healthy genomes from individuals representing 99 ethnic groups.
- The goal is to expand this to 1 million genomes, including those with specific diseases, in order to capture the genetic makeup of all 4,635 population groups identified in India.
- Disease-Specific Insights: Sequencing the genomes of individuals with specific diseases, such as cancers, diabetes, neurological conditions, chronic conditions, and rare genetic disorders, can provide critical insights for developing targeted treatments and diagnostics.
- Policy Formulation and Innovation: The amassed genetic data will be instrumental in formulating healthcare policies and fostering innovations in personalised medicine.
How Does the Database Help?
- Genetic Risk Factors: Identifies genetic factors responsible for diseases, leading to targeted therapies and diagnostic tests.
- Discovery of New Variants: Identified 135 million genetic variations, 7 million of which are unique to India.
- Population-Level Data: Helps understand the frequency of genetic variations causing diseases, such as the MYBPC3 mutation (cardiac arrest risk in 4.5% of Indians) and the LAMB3 mutation (skin condition in 4% of people near Madurai).
- Rare Diseases: Aids in identifying rare diseases and developing gene therapies.
- Resistance to Medications: Identifies genetic variants that make certain medications or anaesthetics ineffective, such as in the Vaishya community in South India.
Data Sharing Framework:
- Managed Access: Data will only be available to Indian researchers and partner institutes through government-approved proposals.
- Anonymity Measures:
- Double-blinding: Data is encoded at two stages to prevent breaches of anonymity.
- Secure sharing via a central database.
Impacts and Future Potential:
- Healthcare Advancements: Understanding the genetic basis of diseases and developing precision medicine tailored to the Indian context.
- Targeted Interventions: Creating specific healthcare interventions essential for various ethnic groups.
- Research and Development: Facilitating cutting-edge research in genomics, enabling the development of genomic chips tailored for Indian demographics.
Global Genome Sequencing Initiatives:
- Human Genome Project: The first complete human genome was sequenced in 2003.
- 1,000 Genome Project: Published 1,092 human genomes in 2012.
- UK Project: Sequenced 100,000 genomes by 2018.
- European Effort: Aims to sequence 1+ million genomes across 24 countries.
