Date: 24/04/2023
Relevance: GS-3: Science and Technology- developments and their applications and effects in everyday life, Achievements of Indians in science & technology; indigenization of technology and developing new technology.
Key Phrases: The Department of Biotechnology (DBT), Genome India Project, deoxyribonucleic acid (DNA), Genomic sequencing, Human Genome Project, mutations, whole genome sequencing or next generation sequencing
Why in News?
- The Department of Biotechnology (DBT) recently said that the exercise to sequence 10,000 Indian human genomes under the Centre-backed Genome India Project is about two-thirds complete.
- About 7,000 Indian genomes have already been sequenced of which, 3,000 are available for public access by researchers.
- The researchers anywhere in the world can now learn about genetic variants unique to the Indian population.
- The United Kingdom, China, and the United States have launched similar programmes to sequence at least 1,00,000 of their population’s genomes.
What is Genome Sequencing?
- 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.
- While the sequence or order of base pairs is identical in all humans, compared to that of a mouse or another species, there are differences in the genome of every human being that make them unique. The process of deciphering the order of base pairs, to decode the genetic fingerprint of a human is called genome sequencing.
Human Genome Project
- The Human Genome Project was a landmark global scientific effort whose signature goal was to generate the first sequence of the human genome.
- Launched in October 1990 and completed in April 2003, the Human Genome Project accomplished generating the first sequence of the human genome – provided fundamental information about the human blueprint, which has since accelerated the study of human biology and improved the practice of medicine.
- Genomic sequencing has now evolved to a stage where large sequencers can process thousands of samples simultaneously.
- 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.
Applications of genome sequencing:
- Evaluate rare disorders: Genome sequencing has been used to evaluate rare disorders, preconditions for disorders, even cancer from the viewpoint of genetics, rather than as diseases of certain organs. Nearly 10,000 diseases — including cystic fibrosis and thalassemia — are known to be the result of a single gene malfunctioning.
- Prenatal screening: It has been used to investigate whether the foetus has genetic disorders or anomalies.
- Cancer diagnosis: Liquid biopsies, where a small amount of blood is examined for DNA markers, could help diagnose cancer long before symptoms appear.
- Halting disease transmission: In public health, however,
sequencing has been used to read the codes of viruses—
- For Example: One of its first practical usages was in 2014, when a group of scientists from M.I.T and Harvard sequenced samples of Ebola from infected African patients to show how genomic data of viruses could reveal hidden pathways of transmission, which might then be halted, thus slowing or even preventing the infection’s spread.
- Experts say that as sequencing gets cheaper, every human’s genome may feasibly be sequenced as part of routine health care in the future, to better understand personal molecular biology and health.
- Public Health: At the population level as well, genomics has several benefits. Advanced analytics and AI could be applied to essential datasets created by collecting genomic profiles across the population, allowing to develop greater understanding of causative factors and potential treatments of diseases. This would be especially relevant for rare genetic diseases, which require large datasets to find statistically important correlations.
What is the significance of the Genome India project?
- It started in Jan 2020 with the involvement of about 20 institutions across India and with analysis and coordination done by the Centre for Brain Research at IISc, Bangalore. The Centre’s Department of Biotechnology notes that the project 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”.
- India’s 1.3 billion-strong population consists of over 4,600 population groups, many of which are endogamous. Thus, the Indian population harbours distinct variations, with disease-causing mutations often amplified within some of these groups.
- Creating a database of Indian genomes allows researchers to learn about genetic variants unique to India’s population groups and use that to customise drugs and therapies.
Source: The Hindu
Mains Question:
Q. The Genome India Projects harbours a great hope for well-being of Indian population. Discuss ( 200 words).
