The Genome India Project

Taking inspiration from the Human Genome Project, the Department of Biotechnology (DBT) initiated the ambitious “Genome India Project” (GIP) . 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.

Summary of GIP

What is the significance of GIP?

• The Genome India Project is inspired by the Human Genome Project (HGP 1990-2003)– an international programme that led to the decoding of the entire human genome.
• HGP has a major diversity problem as most genomes (over 95%) mapped under HGP have been sourced from urban middle-class white people. Thus, HGP should not really be seen as representative of the human genome.
• In this context, the GIP aims to vastly add to the available information on the human species and advance the cause, both because of the scale of the Indian population and the diversity here. This diversity can be depicted by: Horizontal Diversity: The Indian subcontinent has been the site of huge migrations, where the first migrations were from Africa. Also, there have been periodic migrations by various populations from all around the world, making this a very special case of almost all races and types intermingling genetically. Vertical Diversity: There has been endogamy or inter-marriage practised among distinct groups, resulting in some diseases passed on strictly within some groups and some other traits inherited by just some groups.
• Studying and understanding both diversities would provide the bedrock of personalised healthcare for a very large group of persons on the planet.
• Precision Healthcare: GIP will help in the development of personalised medicine, anticipating diseases and modulating treatment according to the genome of patients. For example, the cardiovascular disease generally leads to heart attacks in South Asians, but to strokes in most parts of Africa. If such propensities to disease can be mapped to variations across genomes, it is believed that public health interventions can be targeted better, and diseases anticipated before they develop.
• International Cooperation: Global science would also benefit from a mapping project in one of the world’s most diverse gene pools. The project is said to be among the most significant of its kind in the world because of its scale and the diversity it would bring to genetic studies.

Concerns :

Fear of Scientific Racism: The question of heredity and racial purity has obsessed civilisations, and more scientific studies of genes and classifying them could reinforce stereotypes and allow for politics and history to acquire a racial twist. Data & Storage: After collection of the sample, the anonymity of the data and questions of its possible use and misuse would need to be addressed. Medical Ethics: In a project that aims only to create a database of genetic information poses a risk of doctors privately performing gene modification.