The Department of Biotechnology recently said that the exercise to sequence 10,000 Indian human genomes and create a database under the Centre-backed Genome India Project is about two-thirds complete.

What is the Genome India Project?

• The Genome India Project has been described by those involved as the “first scratching of the surface of the vast genetic diversity of India”.
• It involves over 20 scientists from institutions including the Indian Institute of Science (IISc) in Bengaluru and a few IITs.
• It is inspired by the Human Genome Project (HGP 1990-2003) an international programme that led to the decoding of the entire human genome.

About Human Genome Project (HGP)

What is a Genome?

• Every organism’s genetic code is contained in its Deoxyribose Nucleic Acid (DNA), the building blocks of life.
• The discovery that DNA is structured as a “double helix” by James Watson and Francis Crick in 1953, started the quest for understanding how genes dictate life, its traits, and what causes diseases.
• A genome is all the genetic matter in an organism. It is defined as “an organism’s complete set of DNA, including all of its genes.
• Each genome contains all of the information needed to build and maintain that organism.
• In humans, a copy of the entire genome contains more than 3 billion DNA base pairs.
• Each pair consists of 23 pairs of chromosomes for a total of 46 chromosomes, which means that for 23 pairs of chromosomes in each cell, there are roughly 20,500 genes located on them.

What does genome mapping tell us?

• Some of the genes are lined up in a row on each chromosome, while others are lined up quite close to one another and this arrangement might affect the way they are inherited.
• For example, if the genes are placed sufficiently close together, there is a probability that they get inherited as a pair.
• Genome mapping, therefore, essentially means figuring out the location of a specific gene on a particular region of the chromosome and also determining the location of and relative distances between other genes on that chromosome.

How did it help during the pandemic?

• Genomic sequencing became a crucial tool in the fight against COVID-19 to track emerging variants, conduct further studies, and develop vaccines.
• In January 2020, Chinese scientist Yong-Zhen Zhang sequenced the genome of the novel coronavirus and shared it online, allowing researchers to study the virus’s genetic code.
• India also implemented a sequencing framework, the Indian SARS-COV-2 Genomics Consortia (INSACOG), to scan coronavirus samples from patients and flag the presence of variants.

What is the significance of GIP?

• HGP has a major diversity problem as most genomes (over 95%) mapped under HGP have been sourced from urban middle-class white people.
• Thus, HGP should not really be seen as representative of the human genome.

In this context, the GIP aims to vastly add to the available information on the human species and advance the cause, both because of the scale of the Indian population and the diversity here. This diversity can be depicted by:

1. Horizontal Diversity: The Indian subcontinent has been the site of huge migrations, where the first migrations were from Africa. Also, there have been periodic migrations by various populations from all around the world, making this a very special case of almost all races and types intermingling genetically.
2. Vertical Diversity: There has been endogamy or inter-marriage practised among distinct groups, resulting in some diseases passed on strictly within some groups and some other traits inherited by just some groups.

Its applications

• Personalized Medicine: Genome sequencing can help in the development of personalized medicine. By analyzing a patient’s genetic makeup, doctors can determine the best course of treatment for a particular disease. This approach can help in the early detection of diseases, identifying the risk of inherited diseases, and providing targeted therapies.
• Disease Diagnosis: Genome sequencing can be used to diagnose genetic disorders that are caused by mutations in a single gene, such as cystic fibrosis and sickle cell anemia. It can also help in identifying the genetic causes of complex diseases such as cancer, Alzheimer’s, and diabetes.
• Drug Development: Genome sequencing can help in the development of new drugs by identifying targets for drug therapy. It can also help in the identification of biomarkers that can be used to monitor the effectiveness of drugs.
• Agriculture: Genome sequencing can help in the development of improved crops and livestock by identifying genes that control traits such as yield, disease resistance, and quality.
• Forensics: Genome sequencing can be used in forensic investigations to identify suspects by analyzing their DNA. It can also help in identifying missing persons and victims of disasters.

Challenges involved

• Fear of Scientific Racism: In India, a nation divided by identity politics, scientific work in mapping genetic groups may further strengthen the divisions in the society based on the prevalent notion of race.
• Data & Storage: India is yet to pass a Data Privacy Bill with adequate safeguards and launching the GIP before the privacy question is settled could give rise to another set of problems.
• Medical Ethics: In a project that aims only to create a database of genetic information poses a risk of doctors privately performing gene modification.

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