GenomeIndia project finds 180 million genetic variants

BENGALURU: The GenomeIndia project launched in 2020 to catalogue genetic variations in the Indian population has achieved a significant milestone with the publication of its preliminary findings in the prestigious journal Nature Genetics earlier this week.
The study has found approximately 180 million genetic variants in the 10,000 DNA samples it looked at. “...the identified genetic variants decode extensive genetic diversity that has been hitherto uncaptured in the Indian population,” the paper says.
The understanding of genetic variations will bring us closer to a time when doctors, for instance, will be able to better tell which cancer drug will work best on a particular Indian cancer patient. It will enable more personalised drugs to be developed. It will facilitate early detection and management of diseases prevalent in India. And it could encourage researchers to delve into genomic innovations that can further elevate healthcare standards.

The GenomeIndia project, funded by the Union govt’s biotechnology department, comprises a consortium of 20 national institutions, with the Centre for Brain Research (CBR) at IISc Bengaluru as the coordinating centre. It was launched under the leadership of Vijayalakshmi Ravindranath, founding director of the Centre for Brain Research. Currently, Yadati Narahari, professor at IISc, and Kumarasamy Thangaraj, professor at the Centre for Cellular and Molecular Biology, Hyderabad, are the joint national coordinators.

The project collected blood samples of 20,000 healthy and unrelated Indians from 85 populations – 32 tribal and 53 non-tribal – across over 100 distinct geographical locations in India. DNA samples from 10,074 individuals were subjected to whole genome sequencing.

Of the 180 million genetic variants, some are associated with diseases, some are rare, and some others are unique to India, or to particular communities or small populations in the country.
Developed countries have designed and executed large programmes of genetic cataloguing of their populations. But given the uniqueness of populations, knowledge generated through other national programmes may not be applicable to the Indian population. The GenomeIndia project, once complete, will enable India to reduce its dependence on the Eurocentric nature of genetic knowledge.
Narahari said he expects more detailed findings to be submitted in a couple of months. This will once again go through a peer-review process. The final publication is expected next year.