Summary: Whole genome sequencing has rapidly transitioned from a research tool to a routine diagnostic offering in India, now available through accredited laboratory chains and direct-to-consumer testing kits alike. Yet India lacks a single, dedicated law governing genomic testing; instead, existing frameworks for laboratory accreditation, clinical establishments, and medical devices reach WGS only incidentally, leaving significant gaps around informed consent, genetic counselling, and long-term data protection. A comparative look at the United Kingdom and the United States reveals more structured, albeit still evolving, approaches to regulating genetic diagnostics and consumer genomics. This blog examines the current Indian regulatory patchwork and makes the case for a purpose-built governance framework that addresses the unique, far-reaching implications of genomic information.
What is Whole Genome Sequencing?
Whole genome sequencing (“WGS”) has evolved from just a research tool into a routine diagnostic offering in India. Large accredited diagnostic chains now offer whole genome and exome sequencing alongside a separate and fast-growing segment of at-home genetic testing kits sold directly to consumers.
WGS analyses the entirety of a person’s DNA, including coding and non-coding regions, in a single pass, unlike narrower tests such as whole exome sequencing, which reads only the protein-coding portion of the genome, estimated at roughly 1–2 per cent of total DNA. The human exome comprises the small fraction of the genome that codes for proteins. As WGS also captures non-coding regulatory regions, structural variants, and copy-number changes that exome or panel-based testing does not reach, it is generally associated with a higher diagnostic yield for rare and undiagnosed genetic conditions.
Declining sequencing costs over the years have pushed WGS out of pure research laboratories and into routine clinical diagnostics. WGS underpins two connected uses, including (i) population/reference genomics building a catalogue of genetic variation in a population to understand disease susceptibility and ancestry and (ii) personalised (precision) medicine using an individual’s genomic and molecular profile, often alongside companion diagnostics and pharmacogenomic markers, to tailor prevention, diagnosis, drug selection, and dosing rather than applying a uniform standard of care.
The Diagnostic Landscape
Genetic testing in India today spans a wide spectrum, including diagnostic testing to identify the cause of an existing condition; carrier testing before pregnancy; prenatal screening; pharmacogenomic testing to guide medication choices; and consumer-facing tests covering nutrition, metabolism, and fitness, typically sold as at-home saliva kits without requiring any doctor/physician referral.
The genetic testing category, unlike clinical diagnostic testing, sits distinctly within the regulatory landscape. Tests for general interest, wellness, or lifestyle insight, rather than disease diagnosis, may not trigger the same frameworks as those for clinical diagnostic tests. Genetic testing in India has historically been associated with clinical diagnosis and neonatal care. However, its more recent expansion into consumer-facing personal genomics, which tend to occupy a space that may not be a medical procedure, affects how such tests and underlying products are marketed and sold, including how much pre-test counselling or clinician interpretation is built into the customer experience.
WGS in India: Between Fragmented Regulation
Currently, no single law in India governs WGS. Existing healthcare regulations do not explicitly identify WGS procedures (or genetic testing) as their subject or set out distinct rules. Instead, different pieces of WGS activity fall under laws and standards written for other purposes, which apply only incidentally to genomic testing.
Laboratories offering WGS diagnostic tests generally operate under two frameworks. One is the National Accreditation Board for Testing and Calibration Laboratories (“NABL”) accreditation, granted under the Quality Council of India, certifying a laboratory’s technical competence for operating as a medical laboratory. Although voluntary, this accreditation has become an operating necessity for larger labs, given that NABL accreditation demonstrates higher quality of business operations being undertaken. The other necessary approval is registration as a medical laboratory under the Clinical Establishments (Registration and Regulation) Act, 2010, or the applicable state clinical establishment legislation. Both frameworks are oriented towards laboratory competence, infrastructure, staffing, and record-keeping rather than towards genomic data itself. Specific compliances such as retention periods for raw sequence data, downstream reuse, or genome-specific consent content may sit outside their scope.
The Medical Device Rules, 2017 (“MD Rules”), regulate the genetic testing kits and related in vitro diagnostic products. These classify in vitro diagnostic products into four risk-based categories, Class A through Class D, in ascending order of risk. However, in practice, a majority of the genetic and genomic testing services in India are offered as an end-to-end testing service rather than as a single product (being the in vitro diagnostic kit). While the import, manufacture and sale of genetic testing kits are regulated under the MD Rules, end-to-end services fall outside the regulatory ambit of the MD Rules.
Additionally, while, the Indian Council of Medical Research (“ICMR”) has published The National Ethical Guidelines for Biomedical and Health Research Involving Human Participants, 2017 (“Ethical Guidelines”) to address concerns around inter alia genetic and genomic testing, its provisions seem to apply to genetic testing and research conducted under a formal protocol and overseen by an ethics committee and may not apply to routine clinical genetic testing or direct-to-consumer testing offered outside a research setting. The Ethical Guidelines require written informed consent for routine genetic investigations, genetic screening, pre-symptomatic testing, and specifically for next-generation sequencing and genomic studies. They also state that genetic screening should be purposive,[1] meaning it should only be offered where established provisions for disease management, treatment, and counselling already exist. The guidelines also describe quality checks and accreditation as desirable for laboratories offering genetic testing. In research settings, additional safeguards apply to vulnerable participants, including children, who should not be tested for carrier status or late-onset conditions at a parent’s request alone unless there is direct therapeutic benefit.
On direct-to-consumer testing specifically, the Ethical Guidelines say comparatively little, addressing it briefly under the commercialisation and conflict-of-interest provisions. These guidelines acknowledge that such testing supports individual autonomy but flag that its value depends on test accuracy and on qualified personnel interpreting results together with a treating physician. They do not set out a dedicated consent, counselling, or confidentiality regime for direct-to-consumer providers, reserving such level of protection for research contexts.
Comparative Approaches
The United Kingdom expects genetic tests, including those sold directly to consumers, to meet the same standards as other regulated diagnostics, Direct-to-consumer genetic tests are not treated differently in principle from other self-diagnostic tests. The United States has no federal statute dedicated to genetic testing. A commercially manufactured genetic test kit is regulated as a medical device by the Food and Drug Administration, but a test that a single laboratory develops and performs as its own service, known as a laboratory-developed test, is regulated under the Clinical Laboratory Improvement Amendments. (This a certification regime that governs the laboratory’s personnel, quality control, and process standards rather than the clinical validity of what a specific test detects). At the state level, however, California’s Genetic Information Privacy Act explicitly aims at direct-to-consumer genetic testing companies, defining “genetic data” in its own terms and requiring consent, security safeguards, and deletion rights tied to that category.
The Bottom Line
The growing trend of WGS tests in India, across accredited clinical laboratories facilitated via direct-to-consumer platforms raises the need for governance beyond the general regulation of laboratories and medical devices. WGS is a technically complex process that generates information with long-term, family-wide, and often uncertain implications, requiring dedicated standards and a regulated framework. A dedicated framework addressing minimum standards for genomic testing laboratories, informed consent and counselling requirements extending beyond research settings, disclosure of incidental findings, and data-specific safeguards for genomic information may be the need of the hour in the larger public interest.
We have also previously explored the evolving regulatory landscape surrounding genetic engineering in India in our two-part series on“CRISPR” (refer to Part 1 (March 5, 2025) and Part 2 (March 20, 2025).
[1] Para 10.13.3 (Genetic Screening) Ethical Guidelines.