Why in news?

• Recently, the ambitious Genome India initiative achieved a significant milestone as researchers completed sequencing 10,000 healthy genomes from different regions of the country, representing 99 distinct populations.

What’s in today’s article?

• Genome sequencing
• Genome India Project
• News Summary

What is genome sequencing?

• Human genome
  • 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.
• Genome sequencing
  • While the sequence or order of base pairs is identical in all humans, there are differences in the genome of every human being that makes them unique.
  • The process of deciphering the order of base pairs, to decode the genetic fingerprint of a human is called genome sequencing.
  • In other words, Genome sequencing is the process of determining the complete DNA sequence of an organism's genome.
  • There are several methods of genome sequencing, but the most common is called next-generation sequencing (NGS).
  • NGS allows for rapid, accurate, and cost-effective sequencing of large amounts of DNA.
• Human Genome Project (HGP)
  • In 1990, a group of scientists began to work on determining the whole sequence of the human genome under the Human Genome Project.
  • The project released the latest version of the complete human genome in 2023, with a 0.3% error margin.
  • 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.

What are the applications of genome sequencing?

• To evaluate rare disorder
  • 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.
• Tool for prenatal screening
  • It has also been used as a tool for prenatal screening, to investigate whether the foetus has genetic disorders or anomalies.
  • Technology Crispr, which relies on sequencing, may potentially allow scientists to repair disease-causing mutations in human genomes.
• In public health
  • Sequencing has been used to read the codes of viruses.
  • In January 2020, at the start of the Covid-19 pandemic, Chinese scientist sequenced the genome of a novel pathogen causing infections in the city of Wuhan.
    • Later, genome sequencing of the virus led to the development of vaccine and the creation of diagnostic PCR machines.
  • India also put in place a sequencing framework. The Indian SARS-COV-2 Genomics Consortia (INSACOG) was tasked with scanning coronavirus samples from patients.
• Uses at the population level
  • Advanced analytics and AI could be applied to essential datasets created by collecting genomic profiles across the population.
  • This would allow to develop greater understanding of causative factors and potential treatments of diseases.

What is Genome India project?

• The Genome India Project is a gene mapping project sanctioned by the Department of Biotechnology.
• It was launched with the goal of creating a comprehensive database of genetic variations among the Indian population.
• The project aims to sequence the genomes of over 10,000 Indians from different regions of the country and establish a reference genome for the Indian population.

What is the significance of the Genome India project?

• To learn about genetic variants unique to the Indian population
  • This project allows researchers to learn about genetic variants unique to India’s population groups and use that to customise drugs and therapies.
  • E.g., a mutation MYBPC3 that leads to cardiac arrest at a young age is found in 4.5% of the Indian population but is rare globally.
  • Or, another mutation called LAMB3 that causes a lethal skin condition is found in nearly 4% of the population near Madurai but it is not seen in global databases.
• Database for 1.3 billion population
  • 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.
  • Findings from population-based or disease-based human genetics research from other populations of the world cannot be extrapolated to Indians.

News Summary: 10,000 human genomes sequenced in India

• The Department of Biotechnology announced the completion of the ‘10,000 genome’ project — an attempt to create a reference database of whole-genome sequences out of India.
• This accomplishment has culminated in the creation of a comprehensive genetic map of India, which holds immense potential for clinicians and researchers alike.
• India is the largest genetic lab in the world. This data can help drive the biology sector in the country as well.
  • India’s bio-economy has grown 13 folds in the last 10 years from $10 billion in 2014 to over $130 billion in 2024. It will spearhead India’s future growth.
• The entire dataset will be stored at the Indian Biological Data Centre (IBDC) and will be made available as a digital public good or research.
  • Inaugurated in 2022, the IBDC is the country’s only databank.
  • Prior to that Indian researchers had to host their biological datasets on American or European servers.