By Shambhavi Naik and Pavan Srinath
Heritable genetic diseases, particularly rare diseases, contribute to a significant disease burden in India. In India’s urban areas, congenital malformations and genetic disorders are the third most common cause of mortality in newborns. Rare diseases by themselves are expected to afflict 70-96 million Indians currently.
Guided by a few core principles, this document provides a governance framework for collecting, analysing, and prioritising genomic data for engineering diagnostics and therapeutic solutions. At an estimated cost of INR 1600 crore per year over the next 5 years the “Indian National Genome Project” is made up of the following steps:
1. Seeding the National Genome Platform with the full genome sequencing of 1 million Indians – this seeding will represent the approximately 5000 genetic sub-populations present in India. There are provisions for co-opting private players to leverage existing infrastructure for completion of the sequencing exercise.
2. Developing and Maintaining a National Genomic Database as Public Infrastructure – anonymized and annotated data to be made publicly available. This would ensure access and effective use of the data by multiple players for designing diagnostic/therapeutic products.
3. Governing outputs from the National Genome Platform – the project will lead to vast amounts of data. The document presents two frameworks to prioritise diseases for diagnostic/therapeutic product development through publicly funded projects.
On the genetic front, India comprises over 5000 sub-populations and individual sub-populations may be pre-disposed to specific diseases. A comprehensive study of the genetic layout of these sub-populations would reveal their disease predispositions and help make informed decisions on preventing or managing disease outcomes. A publicly-funded database of the genetic data at the sub-population level would help make correlations between genetic mutations and diseases and also create diagnostic/therapeutic solutions. The resulting public awareness about genetic diseases and the creation of solutions would lead to reduced healthcare issues and costs. This would further improve productivity, standards of living, and greatly contribute to India’s GDP.
This document presents a template which funding agencies could use for creating their own governance frameworks, both for collecting data and making the data publicly available. The data can inform on disease predisposition and enable Indian citizens to make more informed decisions on their health in the future.TDD-Proposed_Instrument_for_Indian_National_Genome_Project_SN_2020-03