Prime Minister Narendra Modi recently praised the successful completion of the Genome India Project. He introduced genome sequencing data of 10,000 Indian citizens, describing it as a major achievement in biotechnology.
Genome sequencing is a lab technique used to identify the complete genetic structure of an organism or cell.
It helps detect alterations in the genome, aiding scientists in studying the causes of diseases like cancer and developing accurate diagnoses and treatments.
The Genome India Project: Unlocking India’s Genetic Diversity
India’s Unique Genetic Diversity
India is incredibly diverse, not just in geography, language, food, and culture, but also in genetic makeup. The country has over 4,600 distinct population groups. To study this vast diversity at the genetic level, the Genome India Project (GIP) was launched in 2020.
Initial Efforts and Collaboration
Under the project, researchers from 20 scientific institutions collaborated to sequence the genomes of 10,000 individuals. The initiative has established a robust framework, including a data-sharing platform, storage facilities, and operational strategies. The Department of Biotechnology now plans to scale the program to sequence up to one million genomes.
Current Achievements
By January 2025, the project had sequenced genomes from over 10,000 people across 99 ethnic groups. This achievement has created one of the world’s most comprehensive genetic databases, securely housed at the Indian Biological Data Centre (IBDC). This repository serves as a valuable resource for scientific and medical research.
Global Genomic Projects
The Human Genome Project
The first major genomic initiative, the Human Genome Project, was launched as an international collaboration funded primarily by the US National Institutes of Health. In 2003, it published the first complete human genome, marking a groundbreaking moment in genetics.
The 1,000 Genomes Project
Building on the Human Genome Project, the 1,000 Genomes Project was another international effort. In 2012, it published 1,092 human genome sequences, offering deeper insights into genetic variation across populations.
The 100,000 Genomes Project
The UK government spearheaded the 100,000 Genomes Project, completing the sequencing of 100,000 genomes by 2018. This initiative focused on understanding rare diseases, cancer, and infectious diseases within the UK population.
The European 1+ Million Genomes Initiative
A large-scale European effort aims to sequence over 1 million genomes across 24 countries. This project seeks to advance personalized medicine and foster cross-border collaboration in genomic research.
Key Milestones Of The Genome India Project
- Sample Collection: Over 19,000 blood samples have been gathered from various communities across India, close to the target of 20,000. These samples represent 99 distinct populations, ensuring broad genetic coverage.
- Genome Sequencing: The project has successfully sequenced 10,074 genomes using advanced technologies, achieving high levels of accuracy.
- Data Storage: All genomic data is securely archived at the IBDC, ensuring privacy while remaining accessible for research purposes.
Expanding the Genetic Scope
- Inclusion of More Groups: The project’s second phase aims to include more ethnic and linguistic groups from India’s diverse population. With 4,635 population groups identified, this expansion will allow researchers to gain deeper insights into India’s genetic diversity.
- Potential for Healthcare Transformation: This project paves the way for significant advances in precision medicine, disease prevention, and personalized treatments. With India’s genetic information becoming more accessible, GIP could revolutionize healthcare in the years to come.
Focus On Disease Genomics
- Studying Disease-Specific Genomes: The second phase will focus on sequencing genomes of individuals with specific diseases. This comparison between healthy and diseased genomes could help identify genetic factors that contribute to or increase the risk of illnesses. For instance, researchers may study genetic changes in diseases like cancer.
- Selection of Diseases: Discussions are underway to finalize the diseases for this phase. Likely candidates include various cancers, chronic conditions like diabetes, neurological disorders, and rare diseases prevalent in Indian populations.
- Advancing Medical Research: By identifying disease-linked genes and understanding genetic changes, the Genome India Project could lead to breakthroughs in diagnosis, treatment, and prevention, ultimately improving public health outcomes.
Institutions Driving the Genome India Project
The Genome India Project (GIP) is a collaborative initiative involving 20 leading institutions across India. Each institution contributes its expertise in areas such as sample collection, genome sequencing, method development, and biobanking. Here is a list of the prestigious organizations participating in this landmark project:
- 1 Centre for Brain Research, Indian Institute of Science, Bengaluru
- 2 CSIR-Centre for Cellular and Molecular Biology, Hyderabad
- 3 CSIR-Institute of Genomics and Integrative Biology, Delhi
- 4 iBRIC-National Institute of Biomedical Genomics, Kalyani
- 5 All India Institute of Medical Sciences, Jodhpur
- 6 Gujarat Biotechnology Research Centre, Gandhinagar
- 7 iBRIC-Institute of Bioresources and Sustainable Development, Imphal
- 8 Indian Institute of Science Education and Research, Pune
- 9 iBRIC-Institute of Life Sciences, Bhubaneswar
- 10 Mizoram University, Aizawl
- 11 iBRIC-Centre for DNA Fingerprinting and Diagnostics, Hyderabad
- 12 Indian Institute of Information Technology, Allahabad
- 13 Indian Institute of Science, Bengaluru
- 14 Indian Institute of Technology, Delhi
- 15 Indian Institute of Technology, Jodhpur
- 16 Indian Institute of Technology Madras, Chennai
- 17 National Centre for Biological Sciences, Bengaluru
- 18 National Institute of Mental Health and Neurosciences, Bengaluru
- 19 iBRIC-Rajiv Gandhi Centre for Biotechnology, Thiruvananthapuram
- 20 Sher-I-Kashmir Institute of Medical Sciences, Srinagar
Benefits Of The Genome India Project Database
- Understanding Disease Risk Factors: The genetic database helps identify the genetic basis or risk factors for various diseases. These insights can be used to develop therapies and diagnostic tools. Modern treatments, such as gene modification, deletion, or addition, rely heavily on understanding which genes cause specific diseases. A comprehensive genetic map makes this possible.
- Discovery of New Genetic Variants: The Indian dataset has uncovered 135 million genetic variations so far, with 7 million being unique and not found in global databases. These new variants provide a deeper understanding of India’s genetic uniqueness and offer opportunities for groundbreaking research.
- Insights into Disease Prevalence: Population-level sequencing reveals how frequently disease-causing genetic variations occur in different groups. For example, the MYBPC3 mutation, linked to early cardiac arrest, is found in 4.5% of Indians but is rare globally. Similarly, the LAMB3 mutation, causing a severe skin condition, is found in 4% of people near Madurai but is absent in global datasets. This highlights the need for an Indian-specific genetic database.
- Identifying Rare Diseases: The database facilitates the identification of rare diseases, enabling the development of gene therapies to treat them. This is especially significant for conditions unique to certain Indian populations.
- Addressing Medicine Resistance: Genetic data can pinpoint variants that affect how populations respond to medications. For instance, a specific sect of the Vaishya community in South India lacks the gene needed to process common anesthetics. This can lead to prolonged unconsciousness or even death. Such findings can guide safer, more effective medical practices.