Population-specific genomic data is essential for precision medicine in India. Examine in the light of founder mutations and the Genome India initiative.

Precision medicine fits prevention and treatment to a person's genes. It works only as well as the reference data used to read a genome. India's many endogamous communities carry their own variants, so Western-derived references often misread Indian patients. Population-specific data is therefore essential, though not enough on its own.

Founder mutations: why imported panels fall short

• A founder mutation is common in one group because its members descend from a shared ancestor. BRCA1 185delAG recurs among South Indians and makes up 24.6% of the pathogenic BRCA variants in an Indian cohort [1].
• This allows a cheap single-mutation test as a first screen in the South, as the study itself recommends [1].
• Of 921 tested patients, 20.4% carried BRCA1/2 variants. However, 37.2% of these were VUS (variants of uncertain significance), which shows how thin Indian reference data still is [1].
• A family history of breast, ovarian, pancreatic or prostate cancer raised the chance of a harmful variant [1]. This supports cascade testing of carriers' relatives.

Genome India: what it adds

• The project sequenced the whole genomes of 10,074 healthy Indians from 83 populations, and the data was opened to researchers on 9 January 2025 through IBDC [2].
• Fewer VUS results: a variant that is common among healthy Indians is unlikely to cause disease, so many uncertain results can be reclassified.
• It enables genomic chips designed for Indian populations [2].
• Access is governed by the Biotech-PRIDE Guidelines and the FeED protocols [2].

Limits: why data alone is not enough

• Small samples per group: about 120 people per population on average, so rare variants in small communities may be missed.
• Healthy-only samples show what is normal, not which variant causes cancer.
• Inherited risk is a minority: WHO notes that only about 10% of children with cancer have a genetic predisposition [3]. Prevention of tobacco use and infections must stay central.
• Capacity and ethics: India has few genetic counsellors, and consent, privacy and insurance discrimination are open questions under the DPDP Act, 2023.

Founder mutations show that genetic risk in India depends on the population, and Genome India provides the reference needed to read it. The way forward is to link Indian cancer-patient variants to Genome India data in a shared ICMR–DBT database, enlarge community sampling, and add family-history questions to NP-NCD screening, all with strong consent safeguards. With these steps, population-specific data can make precision medicine equitable and help achieve SDG 3.