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.
Another issue is the fragmentation of genetic data, with a number of organisations providing genetic testing services, the data remain in silos. Well aggregated summary data of these tests and results could provide key evidence for public health decision making. For example, summary data of variants and prevalence of variants reported from labs, without personal/ identifiable information could enable rough estimates of population-level prevalence of diseases and enable the development of cheaper genetic tests. Without a framework for collecting summary information, the data remains inaccessible for public health decision-making.
Discrimination based on genetic information is indeed a real concern due to lack of laws preventing it. For example, a positive genetic test could potentially prevent one from accessing insurance or reimbursement, if the insurance claims it as a pre-existing condition. In fact, family members or even communities could also be discriminated against, given shared genetic variants and prevalence. The U.S. formulated the Genetic Information Nondiscrimination Act in 2008 which prevents discrimination based on genetic information.
Equity and diversity to genetic data also is a concern that needs to be addressed especially in a diverse country like India, as unregulated market forces could widen the already acute barriers for access to better healthcare, especially for the poor and ethnic minorities. Lack of equity could result in less research, less insights/ evidence for clinical decision making and eventually exclusion of such groups from access to the benefits of genomic technologies.
Ensuring ethical use of the technology is paramount to both advance it and ensure that people benefit from the use, while also being protected from misuse. Evidence-based use of genomics and mechanisms to ensure quality and validity of genomic tests are therefore key. In many countries, professional bodies have come forward to be the vanguards, putting together guidelines, policies and frameworks for fair use. Similar efforts supported by legal provisions are needed in India.
The value of the right guidance and policies in advancing human genomics cannot be overstated. Effective regulations ensure a fair playing field. Clear policies foster trust among stakeholders, encouraging collaboration and innovation in this rapidly evolving field. By emphasising ethical principles and aligning policies with societal needs, human genomics research can realise its full potential in advancing healthcare, improving outcomes, and enhancing the quality of life. With proper oversight, genomic research can revolutionise healthcare, offering personalised treatments, disease prevention strategies, and diagnostic tools.
India has the potential to be a leader through enabling genomics for the masses, at an unprecedented scale opening up unprecedented opportunities and heralding a better and healthier future for its people, but only if it puts the best foot forward.
(Vinod Scaria is a genomics scientist and senior consultant at Vishwanath Cancer Care Foundation, and an Adjunct Professor at Indian Institute of Technology Kanpur)
