Context:
The Genome India Project, funded and coordinated by the Department of Biotechnology, has declared the completion of sequencing 10,000 Indian genomes. This milestone involves the comprehensive analysis of the complete DNA blueprints of 10,000 individuals, establishing a ‘reference’ Indian human genome.
Relevance:
GS-3
- Biotechnology
- Scientific Innovations and Discoveries
- Indigenization of Technology
Mains Question:
What is genome sequencing and why is it significant? What are the associated challenges in this regard? (10 Marks, 150 Words).
About Genome Sequencing:
- Genome sequencing involves determining the sequence of DNA nucleotides, or bases, in an organism’s genome, specifying the order of Adenine, Cytosine, Guanine, and Thymine.
- Regarding the human genome, it consists of 23 pairs of chromosomes, totalling approximately 3 billion DNA base pairs.
- These chromosomes include 22 autosomal chromosomes and the sex-determining X and Y chromosomes. The autosomal chromosomes (1-22) are generally numbered by decreasing size.
- Somatic cells typically possess one copy of chromosomes 1-22 from each parent, along with an X chromosome from the mother and either an X or Y chromosome from the father, resulting in a total of 46 chromosomes.
- The significance of genome sequencing lies in its pivotal role in understanding the genome. It serves as a valuable shortcut for scientists, aiding in the easier and quicker identification of genes.
- Although scientists are still learning to interpret the clues present in a genome sequence, they anticipate that studying the entire genome sequence will provide insights into how genes collaborate to direct the growth, development, and maintenance of an organism.
- Additionally, since genes constitute less than 25 percent of the DNA in the genome, knowing the entire genome sequence facilitates the exploration of regions outside genes.
- This encompasses regulatory areas that control gene activation and deactivation, as well as extensive segments of “nonsense” or “junk” DNA, whose significance is yet to be established.
About the Genome India Project:
- The Genome India Project (GIP) is a nationwide initiative with the objective of sequencing 10,000 genomes by the conclusion of 2023.
- This project receives funding from the Government of India’s Department of Biotechnology and is spearheaded by the Centre for Brain Research (CBR).
- In its initial phase, the GIP seeked to discern genetic variations by conducting genome sequencing on 10,000 individuals from diverse regions of India.
- The overarching aim of the project is to advance personalized medicine, tailoring medical treatments based on the unique genomic makeup of patients.
Significance of the Initiative:
- In a sense, this recent initiative can be likened to the creation of the first detailed map of India, including all political units, crucial geographical and topographical features.
- While acknowledging that 10,000 individuals may not be fully representative of a country with over a billion people, it currently serves as the best available template. This foundation is crucial for extracting numerous insights.
- The immediate application of this genomic data is evident in disease prevention. In 2009, Indian geneticists, collaborating internationally, identified a correlation between an anomaly in the MYBPC3 protein (cardiac myosin binding protein C) and a heightened risk of heart failure.
- This genetic variant was found in about 4% of individuals of Indian ancestry, a proportion higher than expected, considering the rarity of this problematic variant.
- India comprises approximately 4,500 distinct population groups, and its historical practice of arranging society along caste lines through endogamy has led to the persistence of rare genetic variants, many of which are harmful.
Revealing New Layers of Complexity:
- Despite the ambitious promises made by the Human Genome Project in 2003, which decoded the reference ‘human genome’ at a cost of nearly $3 billion, offering visions of mapping genes to diseases and personalized medicine, subsequent decades have tempered these expectations. It became apparent that only a small fraction of diseases are monogenic, influenced by a single gene.
- Despite advancements in understanding how rare, inherited genes contribute to severe ailments, practical solutions were often hindered by the prohibitive cost of any discovered medicines, rendering them inaccessible to those in need. In essence, genome sequencing revealed new layers of complexity.
Conclusion:
While Genome India aims to surpass the 10,000 mark, it is imperative for the project to be truly democratic. The findings should not be confined to academic ivory towers but should involve inclusive collaborations with scientists, students, technology companies, ethicists, and social scientists. This approach is essential to advance India’s self-understanding and propel the country forward in genomics research.
