The IndiGen Genome Project is a government-funded exercise to create a genome database for India
By: Neelam Jhangiani
For the first time ever, a gene database just for Indians has been developed by sequencing more than 1000 individuals from diverse ethnicities. The IndiGen Genome Project, is a government-funded exercise to create a genome database for India. This indigenous genetic mapping might improve our ability to diagnose, prevent, and treat diseases specific to the Indian population as most of the globally available genetic tests have been developed using data of Caucasian populations.
The importance
Human genome sequencing has an important role in diagnostics and treatment, as it 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.
Privacy concerns
With gene sequencing becoming inexpensive, companies are now selling 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.
An area of concern is that our country does not have stringent regulations for this budding field. The Indian Council of Medical Research (ICMR), the apex body that regulates clinical trials in India, has no specific guidelines to govern genetic testing laboratories.
If privacy is not handled appropriately, genetic discrimination can be another ticking bomb in India, where caste, sex, religion and color-based discrimination
Sensitive personal information is accessible to companies and it could be hacked or sold to third parties without participants’ consent. Genomic data also characterises a person’s ancestral history, therefore, information about one person reveals information about the persons close to them or about distant biological relatives. Employers and health insurers might misuse this data to marginalise or discriminate against people based on genetic profiles. Genetic discrimination can be another ticking bomb in India, where caste, sex, religion and color-based discrimination is so common.
Safety issues
Every effort must be made to minimise the likelihood of data breaches given the sensitivity of genomic data and maintain public trust in institutions that gather, store and use such data. This can be achieved in three different ways.
An effective policy: A more comprehensive and effective policy to guide the use of genomic information, with significant emphasis on protecting the privacy of research subjects. This can be made possible through ‘dynamic consent’ by which people who wish to participate in a research project can register themselves and provide consent on an ongoing basis. Such models will help improve participation rates and provide autonomy to patients to make informed decisions regarding the use of personal data they choose to part with.
Data collection: The process of data collection needs to be reliable, confidential, and accurate to achieve such large-scale information. The application of blockchain technology —a digital distributed ledger, is perhaps a practical and feasible solution to build such a reliable and safe database to secure genomic data. This model can provide the data subject with singular control over his/her data, and the authority to grant access to specific healthcare providers and research institutions for collaboration on disease prevention and treatment.
Balancing privacy & sharing: To balance sharing of genomic data with an individuals’ privacy, a collaborative and harmonised framework must be developed. The framework must specify the purpose of the collected genomic data and the duration for which it will be stored in the databank and 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.
What now?
While India’s massive population along with a huge burden of genetic diseases holds tremendous potential for this sector, the current market for genetic testing is limited due to lack of awareness and cost challenges.
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.
