For the first time ever, we have a gene database just for Indians.
The IndiGen Genome Project, launched in April this year, is a government-funded exercise that sequenced more than a thousand individuals from diverse ethnicities to create a genome database for India.
Since most of the globally available genetic tests have been developed using data of Caucasian populations, this indigenous genetic mapping exercise might improve our ability to diagnose, prevent, and treat diseases specific to the Indian population.
But is India, which will see the Personal Data Protection Bill being tabled in Parliament this winter session, ready?
Importance of genomic data
Human genome sequencing has the potential to determine the role of individual genes and their ability to cause diseases. Data generated through these sequencing technologies offer opportunities to assess genetic predisposition to a disease, diagnose heritable cancers, and develop tests to prevent adverse drug reactions.
Examples include prenatal genetic testing for expectant couples to detect birth defects or genetic disorders, predictive genetic testing to diagnose heritable breast and ovarian cancers, and diagnostic genetic testing to confirm the possibility of monogenic disorders such as sickle cell anaemia and cystic fibrosis.
In short, genomics offers the potential to medically treat patients according to their unique genetic profiles.
Gene sequencing is becoming so inexpensive that companies now sell testing kits directly to customers. Do-it-yourself (DIY) genetic testing may transfer disease diagnosis from health professionals directly to consumers. This raises risks. Some of these can be seen today, while others will appear in hindsight.
India today has only loose regulations for this budding field. The Indian Council of Medical Research, the apex body that regulates clinical trials in India, has no specific guidelines to govern genetic testing laboratories.
Companies have access to sensitive personal information, which could be hacked or sold to third parties without participants’ consent. Since genomic data also characterises a person’s ancestral history, information about one person reveals information about the person’s close or distant biological relatives. Health insurers and employers might misuse this data to marginalise or discriminate against people based on genetic profiles. In India, where caste, sex, religion and colour-based discrimination is so common, genetic discrimination can be another ticking bomb.
How to keep genome data safe
Given the sensitivity of genomic data, every effort must be made to minimise the likelihood of data breaches and to maintain public trust in institutions that gather, store and use such data. This can be achieved in three different ways.
First, there is a need for a more comprehensive and effective policy to guide the use of genomic information, with significant emphasis on protecting the privacy of research subjects. One way to make this possible is through ‘dynamic consent’ by which people who wish to participate in a research project can register themselves and provide consent on an ongoing basis. These models will help improve participation rates while providing patients with the autonomy to make informed decisions regarding the use of personal data they chose to part with.
Second, gathering such large-scale information can only be achieved if the process of data collection is reliable, confidential, and accurate. A practical and feasible solution to build such a reliable and safe database is the application of blockchain technology—a digital distributed ledger—to secure genomic data. This model can provide the data subject with singular control over her data, and the authority to grant access to specific healthcare providers and research institutions for collaboration on disease prevention and treatment.
Third, a collaborative and harmonised framework must be developed to balance sharing of genomic data with an individuals’ privacy. The framework must be transparent enough to specify the purpose of the collected genomic data and the duration for which it will be stored in the databank.
The framework should also have specific clauses dealing with the communication of results to not only data users but also the contributors of data.
The Data Protection Authority—set up under the draft Personal Data Protection Bill, 2018— should periodically monitor this to help build public trust and to ensure that the data-sharing model minimises harm and maximises benefits.
Although the current market for genetic testing is limited due to lack of awareness and cost challenges, India’s massive population along with a huge burden of genetic diseases holds tremendous potential for the field.
India, however, needs to balance the protection of patient’s privacy with data access to reap the benefits of advancements in genomics in the field of personalised medicine—a scenario where patients are treated based on their unique genetic profiles.
This article is part of a series examining The Future of Data in partnership with Carnegie India leading up to its Global Technology Summit 2019 in Bengaluru from 4-6 December 2019. More details about the summit are available here.
The author is a research analyst with the Technology and International Affairs Program at the Carnegie Endowment for International Peace.
Views are personal.