CSIR offers free mapping of Indian genomes

There is already a backlog of at least 400 individuals for the project

October 25, 2019 05:10 pm | Updated October 26, 2019 11:27 am IST - New Delhi

The sequencing will enable faster and efficient diagnosis of rare genetic tests, carrier screening applications for expectant couples, enabling diagnosis of hertiable cancers among others.

The sequencing will enable faster and efficient diagnosis of rare genetic tests, carrier screening applications for expectant couples, enabling diagnosis of hertiable cancers among others.

Anyone looking for a free mapping of their entire genome can sign up for the IndiGen initiative, a programme managed by the CSIR-Institute of Genomics and Integrative Biology (IGIB) and the CSIR-Centre for Cellular and Molecular Biology (CCMB).

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. They were chosen from across the land to represent the width of genetic variability.

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.

Not everyone who signs up will be guaranteed a scan. There’s already a backlog of at least 400 individuals and in a year or so, CSIR scientists say, partnerships it is negotiating with several pathological laboratories, will see such scans being performed by companies for a price.

“As of today anyone can apply via our website,” said Vinod Scaria, a senior scientist at the CSIR-IGIB who’s associated with the initiative. “But there are already several to be scanned. Eventually the idea is that people will connect with laboratories via their doctors who will interpret their test for them. Much like a CT scan, for instance.”

Private laboratories say that they see potential from the results of the genome mapping to translate into affordable genetic tests. “By partnering with IndiGen 1000 genome project we wish to bring accurate diagnostics to the people of India at an affordable price,” Dr. Vandana Lal, Executive Director, LalPathLab Ltd said in a statement.

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 outcomes of IndiGen will have applications in a number of areas including faster and efficient diagnosis of rare genetic diseases,” said Union Science Minister, Harsh Vardhan, at a press conference, “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.

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