From UPSC perspective, the following things are important :
Prelims level : IndiGen Initiative
Mains level : Applications of Genome Sequencing
- Anyone looking for a free mapping of their entire genome can sign up for the IndiGen initiative.
- Under this, the IndiGen mobile application enables participants and clinicians to access clinically actionable information in their genomes.
- Those who do get their genes mapped this way will get a card and access to an app, which will allow them and doctors to access “clinically actionable information” on their genomes.
- The programme is a culmination of a six-month project by the CSIR in which 1000 Indians, had their genomes scanned in detail.
- It is managed by the CSIR-Institute of Genomics and Integrative Biology (IGIB) and the CSIR-Centre for Cellular and Molecular Biology (CCMB).
- 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.
Why such move?
- 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.
- A whole genome sequencing is more involved and expensive — it’s about ₹100,000 and a single person’s scan take a whole day — and generally attempted only for research purposes.
- 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.
- The whole genome data will be important for building the knowhow, baseline data and indigenous capacity in the emerging area of Precision Medicine.
- The benefits 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 outcomes 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.