The last two decades have seen unprecedented advances in genomics. These advancements have come in the background of our ability to sequence, analyse and interpret genomes at an unprecedented scale, along with an emerging and expanding corpus of evidence to act upon the genomic information for healthcare decision making. As the costs of sequencing continue to plummet, the next decade is expected to see widespread use of genome sequencing in clinical settings. The population-scale genome programmes currently under way in many large and small countries encompassing millions of genomes would form the foundation and fuel this paradigm shift. This throws open unprecedented new opportunities, as also significant new challenges.
India has not been too far behind in human genomics, with the announcement of the first genome sequencing in 2009, 1,000 genomes in 2019 and recently concluded 10,000 genomes last week. These efforts undoubtedly have contributed to significant insights into diseases in the population, estimates of the prevalence of many conditions, and more importantly serving as baseline data for decision making, apart from its utility in accelerating research. However, given the large, diverse and stratified population encompassing over 1.4 billion people, it would mean we need to be ambitious, while at the same time pragmatic, to ensure that the benefits of genomics are not lost out to our people. Apart from significant impetus in sequencing individuals at scale, to match similar efforts across the world, a well-thought-through legal and policy framework and wider and integral participation of industry is essential to accelerate this in India. Many countries have been proactive in formulating legal and policy frameworks to ensure the benefits of the technology is widely accessible while also accelerating research and development.
Data protection is one of the important components that urgently require a legal framework. While the Health Ministry Steering committee clearances are required for research collaborations, the Director General of Foreign Trade notification enables samples to cross borders for commercial purposes. This has been widely exploited by large pharma and research organisations abroad to perform research on Indian samples. Despite significant established capacity and expertise in India, a significant number of samples from India are sequenced and/or analysed by companies abroad with little oversight and regulation.
