Insights into Editorial: What is ‘IndiGen’ project that is sequencing Indian genes?
The Council of Scientific & Industrial Research (CSIR) conducts Whole Genome Sequencing of over 1,000 Indians for Biomedical Applications
The Council of Scientific & Industrial Research (CSIR) has conducted Whole Genome Sequencing of 1,008 Indians from different populations across the country.
Announcing details of the IndiGen Genome project, the Union Minister for Science & Technology said that the whole genome data will be important for building the knowhow, baseline data and indigenous capacity in the emerging area of Precision Medicine.
What is a genome?
- A genome is the DNA, or sequence of genes, in a cell. Most of the DNA is in the nucleus and intricately coiled into a structure called the chromosome.
- The rest is in the mitochondria, the cell’s powerhouse. Every human cell contains a pair of chromosomes, each of which has three billion base pairs or one of four molecules that pair in precise ways.
- The order of base pairs and varying lengths of these sequences constitute the “genes”, which are responsible for making amino acids, proteins and, thereby, everything that is necessary for the body to function.
- It is when these genes are altered or mutated that proteins sometimes do not function as intended, leading to disease.
Process of Genome Sequencing:
Sequencing a genome means deciphering the exact order of base pairs in an individual.
This “deciphering” or reading of the genome is what sequencing is all about.
Costs of sequencing differ based on the methods employed to do the reading or the accuracy stressed upon in decoding the genome.
It has been known that the portion of the genes responsible for making proteins called the exome occupies about 1% of the actual gene.
India, led by the CSIR, first sequenced an Indian genome in 2009, it is only now that the organisation’s laboratories have been able to scale up whole-genome sequencing and offer them to the public.
About IndiGen Genome project:
- The IndiGen initiative was undertaken by CSIR in April 2019, which was implemented by the CSIR-Institute of Genomics and Integrative Biology (IGIB), Delhi and CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad.
- The objective is to enable genetic epidemiology and develop public health technologies applications using population genome data.
- This has enabled benchmarking the scalability of genome sequencing and computational analysis at population scale in a defined timeline.
- The ability to decode the genetic blueprint of humans through whole genome sequencing will be a major driver for biomedical science.
- IndiGen programme aims to undertake whole genome sequencing of thousands of individuals representing diverse ethnic groups from India.
Need for genome sequencing:
- A genetic test, which is commercially available at several outlets in the country, usually involves analysing only a portion of the genome that’s known to contain aberrant genes linked to disease.
- It is important to ensure that India, with its unparalleled human diversity, is adequately represented in terms of genomic data and develops indigenous capacity to generate, maintain, analyse, utilize and communicate large-scale genome data, in a scalable manner.
- Ever since the human genome was first sequenced in 2003, it opened a fresh perspective on the link between disease and the unique genetic make-up of each individual.
- Nearly 10,000 diseases including cystic fibrosis, thalassemia are known to be the result of a single gene malfunctioning.
- While genes may render some insensitive to certain drugs, genome sequencing has shown that cancer too can be understood from the viewpoint of genetics, rather than being seen as a disease of certain organs.
- The human genome has about 3.2 billion base pairs and just 10 years ago cost about $10,000. Now prices have fallen to a tenth.
Applications of IndiGen Genome project:
The outcomes of the IndiGen will have applications in a number of areas including predictive and preventive medicine with faster and efficient diagnosis of rare genetic diseases.
The outcomes will be utilized towards understanding the genetic diversity on a population scale, make available genetic variant frequencies for clinical applications and enable genetic epidemiology of diseases.
The benefits of this initiative include epidemiology of genetic diseases to enable cost effective genetic tests, carrier screening applications for expectant couples, enabling efficient diagnosis of heritable cancers and pharmacogenetic tests to prevent adverse drug reactions.
The aim of the exercise was twofold: To test if it’s possible to rapidly and reliably scan several genomes and
Advise people on health risks that are manifest in their gene and, understand the variation and frequency of certain genes that are known to be linked to disease.
The IndiGenome card and app ensures privacy and data security, which is vital for personal genomics to be implemented at scale.
The CSIR exercise ties into a larger programme coordinated by the Department of Biotechnology, which plans to scan nearly 20,000 Indian genomes over the next five years, in a two-phase exercise, and develop diagnostic tests that can be used to test for cancer.