In a significant development, India has completed the sequencing of 10000 genomes of Indian population. Preliminary findings have brought forth huge number of rare variants, discovery of diseases indicating variants, resistance indicating variants and novel insights into the population history. The samples were taken from 99 ethnic groups spanning 20 centres across the length and breadth of the country.
Dr. Jitendra Singh, union minister for science and technology said that 10,000 genome sequencing is a watershed moment and will lead to genetic-based remedies, besides giving a big boost to public healthcare system in the country. “Genome study or sequencing is going to determine the future healthcare strategies across the world, both therapeutically and prophylactically,” the minister said, while announcing the completion of the genome sequencing at an event in New Delhi.
“For the common people, genome sequencing will help in identifying the genetic cause for various diseases. One can estimate the frequency of deleterious mutations and also help in improving diagnostic methods in terms of time and cost. It will also provide appropriate pre-natal and pre-marital counselling to avoid mutations passing to the next generation,” said Prof. Y. Narahari, one of the joint coordinators of Genome India project, which was launched in 2020. “Take the case of cardio myopathy which appears after a certain age, may be after 10-15 years. But if one can detect the mutation we can start the treatment and delay the phenotype which in itself is sufficient for individuals for a healthy life,” he added.
Dr K. Thangaraj, another joint coordinator said that beyond the sheer scale of sequencing and establishing a Reference Genome, the creation of a biobank housing 20,000 blood samples at the Centre for Brain Research, coupled with data archiving at the Indian Biological Data Centre exemplify the project's commitment to transparency, collaboration, and future research endeavors. “The data is being stored at the Indian Biological Data Centre (IBDC) set up by Department of Biotechnology, Government of India at the Regional Centre for Biotechnology (RCB), Faridabad,” he added.
The minister in his address emphasized that India's bio-economy has grown 13 fold in the last 10 years from $10 billion in 2014 to over $130 billion in 2024. He added that the biotechnology sector has seen a rapid growth in the last 10 years and India is now being rated among top 12 bio-manufacturers in the world. “India's population of 1.3 billion is made up of over 4,600 diverse population groups, many of which are endogamous (matrimony in close ethnic groups) having unique genetic variations and disease-causing mutations that cannot be compared to other world populations. Hence the need of the hour was to create a database of Indian reference genome, for gaining insights about these unique genetic variants and use the information to create personalized drugs for the Indian population.”
