Taking inspiration from the Human Genome Project, this year, the Department of Biotechnology (DBT) initiated the ambitious “Genome India Project” (GIP) on 3rd January 2020. The GIP aims to collect 10,000 genetic samples from citizens across India, to build a reference genome. This is no mean feat, given that the genome contains all the genetic matter in an organism, i.e., the complete set of DNAs. 

Whole-genome sequencing and subsequent data analysis of the genetic data of these 10,000 individuals would be carried out. This would aid our understanding of the nature of diseases affecting the Indian population, and then ultimately support the development of predictive diagnostic markers. This is a landmark initiative, particularly because it would bring valuable addition to existing genome research, which has so far been limited to the Western context. It allows India to draw upon its tremendous genetic diversity, given the series of large migrations historically, and thus, add greatly to the current information about the human species.

Through whole-genome sequencing, the plan is to build an exhaustive catalogue of genetic variations for the Indian population. This would aid in the designing of genome-wide association chips which will facilitate further large-scale genetic studies in a cost-effective manner. Furthermore, it would also open new vistas for advancing next-generation personalized medicine in the country, paving the way for predicting health and disease outcomes and modulating treatment protocols based on the genome sequences. The initiative would also support the development of targeted preventive care, as it has the potential to help identify those population groups which are more susceptible to various risk factors for certain diseases. For instance, if a region shows a tendency towards a specific disease, customized interventions can be made in the region, accordingly, leading to more effective treatment overall.

This project is led by the Centre for Brain Research at Bengaluru-based Indian Institute of Science, which acts as the central coordinator between a collaboration of 20 leading institutions, each collecting samples and conducting its own research. Institutes involved include the Indian Institute of Science (IISc) in Bengaluru as well as several Indian Institutes of Technology (IITs). For conducting the project, investigators in hospitals will lead the data collection through a simple blood test from participants and the information will be added to biobanks.

Some of the priority areas are Precision health, Rare genetic disorders, Mutation spectrum of genetic and complex diseases in the Indian population, Genetic Epidemiology of Multifactorial Lifestyle Diseases, and Translational Research.

This initiative reflects India’s progress in gene therapies and precision medicine, and its movement towards emerging next-generation medicine which yields the possibilities for greater customization, safety, and earlier detection. This initiative would help lay the foundation of personalized healthcare for a very large group of persons on the planet.