The human genome is the ultimate instruction manual of life—a comprehensive blueprint that directs every biological process essential to our existence. Composed of DNA, which in turn is made up of four nucleotides (Adenine (A), Cytosine (C), Guanine (G), and Thymine (T)), our genetic code stretches across an astonishing three billion letters. Every cell in our body houses this intricate sequence organised within 23 pairs of chromosomes. Through the marvel of heredity, we inherit half of our genetic material from our mother and the other half from our father, ensuring that the blueprint of our life is a unique blend of both the lineages.
WHAT ARE GENETIC VARIATIONS?
While the genome provides the basic design, it is the subtle differences within this genetic code that make each individual unique. On average, about one in every 1,000 nucleotide positions varies between two individuals. These genetic variations have far-reaching implications: they not only influence our susceptibility to diseases but also affect how we respond to medications. By studying these variations, scientists can unravel the complexities behind disease predispositions and tailor treatments to individual genetic profiles.
In a country like India—one of the oldest and most genetically diverse populations in the world—these variations take on special significance. India’s population is a mosaic of numerous ethnic subgroups, each characterised by distinct physical, linguistic, and cultural traits. Profiling the genomic diversity among these groups offers valuable insights into their history, patterns of natural selection, and adaptive strategies. Ultimately, creating a ‘reference genome’ that mirrors the genetic diversity of the Indian population will pave the way for more precise healthcare interventions and personalised medicine.
INTRODUCING GENOMEINDIA
To address the pressing need for a comprehensive understanding of its genetic landscape, the Government of India launched GenomeIndia in January 2020. Funded by the Department of Biotechnology under the Ministry of Science and Technology, this ambitious national project aims to sequence the genomes of 10,000 individuals representing 99 distinct ethnic groups across the country. Rather than simply decoding genetic information, GenomeIndia is creating an exhaustive catalogue of genetic variations that truly reflects the rich diversity of the Indian populace.
This initiative is about much more than just sequencing genes. It is a transformative effort to build a detailed reference that encapsulates the genetic makeup of India, thereby deepening our understanding of the complex interplay between genetics, health, and disease. With over 1.43 billion people spread across more than 4,600 distinct groups, many of which practice endogamy, India’s genetic landscape is as diverse as it is unique. GenomeIndia’s comprehensive approach is expected to revolutionise clinical practice by enabling more targeted and effective healthcare solutions.
CREATING RESOURCE FOR PUBLIC HEALTH
Globally, millions of genomes have been sequenced, yet Indian populations remain significantly underrepresented in these studies. This gap is particularly important because the unique genetic variations found in different Indian communities affect disease risk and treatment outcomes. By focusing on India’s specific genomic variations, GenomeIndia is poised to bridge this gap and transform healthcare for millions.
THE INITIATIVE HAS SEVERAL CRITICAL GOALS:
Establish a Comprehensive Reference: Sequencing the genomes of 10,000 individuals from 99 ethnic groups to develop a detailed reference of genetic variations.
Build a Robust Biobank: Creating a repository of 20,000 blood samples that will serve as an invaluable resource for future genomic research.
Promote Open Access: Making the genome data available as digital public goods through the Indian Biological Data Center (IBDC), thereby supporting academic and clinical research.
Innovate Diagnostics: Designing genome-wide and disease-specific genetic chips that facilitate low-cost diagnostics and propel research forward.
Pioneer Precision Medicine: Laying the groundwork for genome-based precision medicine in India.
Inspire Future Generations: Encouraging young researchers and students to explore the exciting field of genomics, fuelling a new era of scientific innovation.
WHO IS INVOLVED?
GenomeIndia is a collaborative initiative that brings together dedicated scientists and researchers from 20 partner institutions, many of which play multiple roles in the project. The key institutions involved in sample collection, sequencing, and analysis include the Centre for Brain Research (CBR) at IISc Bengaluru, CSIR-Centre for Cellular and Molecular Biology (CSIR-CCMB) in Hyderabad, CSIR-Institute of Genomics & Integrative Biology (CSIR-IGIB) in New Delhi, and iBRIC-National Institute of Biomedical Genomics (iBRIC-NIBMG) in Kolkata. Several institutions serve as sample collection centres, such as AIIMS Jodhpur, Gujarat Biotechnology Research Centre (GBRC) in Gandhinagar, IISER Pune, and others across India, including institutes in Imphal, Bhubaneshwar, Aizawl, Bengaluru, Thiruvananthapuram, and Srinagar.
Additionally, method development is spearheaded by institutions like the Centre for DNA Fingerprinting and Diagnostics (iBRIC-CDFD) in Hyderabad, Indian Institutes of Science and Technology in multiple cities, and the National Centre for Biological Sciences (NCBS) in Bengaluru. For biobanking and data archival, the Centre for Brain Research (CBR), Bengaluru, manages the biobank, while the Indian Biological Data Centre (IBDC), Faridabad, is responsible for data storage and preservation. This extensive network of institutions ensures that GenomeIndia operates efficiently across various domains.
MILESTONES AND ACHIEVEMENTS
Strides made by GenomeIndia are:
Extensive Sample Collection: Over 19,200 blood samples have been collected from 99 ethnic groups, nearly reaching the target of 20,000 samples. These samples now form a key part of the GenomeIndia biobank, which will underpin future discoveries.
Whole-Genome Sequencing Success: The project has successfully completed the whole-genome sequencing of more than 10,000 individuals, providing a detailed snapshot of India’s genetic diversity.
Data Archiving: Sequencing data for over 7,800 samples is securely archived at the IBDC. Plans are underway to make the complete dataset available for academic and research purposes.
Insightful Phase 1 Analysis: In the initial phase, joint genotyping of 5,750 samples has revealed a wealth of rare genetic variations. These findings reflect the unique population history of India and hold significant clinical promise.
FUTURE ROADMAP
GenomeIndia has laid out a clear and ambitious roadmap:
Joint Genotyping of 10,000 Genomes: Comprehensive analysis of all sequenced genomes to extract India-specific insights.
Development of an Indian Reference Genome: Creating a tailored reference that accurately reflects the genetic diversity of the population.
Enhanced Data Accessibility: Archiving all genomic data at the IBDC and making it accessible as digital public goods for the benefit of researchers worldwide.
Innovative Diagnostic Tools: Designing genetic chips that enable both genome-wide and disease-specific analyses, thereby facilitating cost-effective diagnostics.
Global Dissemination: Publishing a flagship manuscript from the GenomeIndia Consortium to share groundbreaking findings with the global scientific community.
Continued Research Initiatives: Leveraging the extensive dataset through specialised working groups to drive further scientific investigations and innovations.
CONCLUSION
The study of genomes and genetic variations is not just a scientific endeavour—it is a journey into the very essence of life. GenomeIndia represents a bold step forward in this quest, aiming to decode the genetic blueprint of the Indian population and harness this knowledge to revolutionise healthcare. By creating a comprehensive reference genome tailored to India’s diverse genetic landscape, the initiative promises to unlock new insights into disease mechanisms and enable precision medicine that is both effective and personalised.
As GenomeIndia continues to make strides in sample collection, sequencing, and data analysis, it is set to become a cornerstone of modern medical research in India. This visionary project not only addresses the current gap in global genomic studies but also lays the foundation for a future where every citizen can benefit from advances in genetic research and targeted clinical interventions.
In a world where our understanding of genetics is rapidly evolving, GenomeIndia stands as a beacon of hope and innovation—a project that will not only transform clinical practice but also inspire a new generation of scientists to explore the endless possibilities hidden within the human genome.
*Source: Department of Biotechnology, Ministry of Science & Technology, Government of India.
