10,000 human genomes sequenced in India

What’s in today’s article?

• Why in news?
• What is genome sequencing?
• What are the applications of genome sequencing?
• What is Genome India project?
• What is the significance of the Genome India project?
• News Summary: 10,000 human genomes sequenced in India

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 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.

Q1) What is Indian Biological Data Centre (IBDC)?

The Indian Biological Data Centre (IBDC) is India's first national repository for life science data. It's located in Faridabad, Haryana. The IBDC is a government initiative that stores, annotates, and shares biological data. It's mandated to archive all life science data generated from publicly-funded research in India.

Q2) What is Deoxyribonucleic acid (DNA)?

 Deoxyribonucleic acid (DNA) is a molecule that contains genetic information and instructions for protein synthesis. It is found in most cells of every organism. 

Source: 10,000 human genomes sequenced in India: Govt | PIB | The Hindu