A major study has revealed that Indians have genetic patterns so different from other populations that medical treatments developed in Europe and America may not work the same way for Indian patients.
GenomeIndia, a comprehensive research project led by India’s top scientific institutions, analysed DNA samples from over 9,700 people across the country. The findings, which are in a preprint published on medRxiv and have not yet undergone peer review, suggest that reliance on Western research may not be fruitful for effective healthcare management and warrants creating its own guidelines for diagnostics, prevention and treatment.
“The GenomeIndia initiative was designed to capture the anthropological, linguistic, and socio-cultural diversity of the Indian subcontinent,” the researchers explain. They studied participants from every major region and language group, including both tribal and non-tribal communities.
“This is an amazing initiative by the Government of India led by the department of biotechnology. The endeavour dealt with sequencing the first 10,000 genomes of the country. In today’s time nobody doubts the potential of huge sequencing datasets to revolutionize healthcare which can change the practising guidelines,” Mohammed Faruq, one of the researchers of the study and scientist at CSIR-Institute of Genomics and Integrative Biology told News18.
“A huge set of novel findings have come on surface from each of the populations that were sequenced, the occurrence of novel variations, the hidden spectrum of medically actionable variations…Tribal populations hold a very unique genomic structure. The health parameters, medical conditions and drug response will require knowledge of local genomic architecture.”
The study involved 13 major institutions across India – from All India Institute of Medical Sciences, Jodhpur (AIIMS-J) Gujarat Biotechnology Research Centre, Ahmedabad (GBRC), Indian Institute of Science Education and Research, Pune (IISER-Pune) to National Institute of Mental Health and Neurosciences, Bengaluru (NIMHANS) and Indian Institute of Technology, Jodhpur.
The Hidden Burden of Genetic Disease
The study uncovered a striking pattern: certain Indian tribal communities carry genetic disease risks for certain disease far higher than any other population ever studied (like sickle cell and risk for various metabolic and endocrine disorders).
Some isolated tribal groups have inherited harmful genetic mutations at rates much higher than even the Ashkenazi Jewish and Finnish populations – groups historically known for concentrated genetic disease.
The researchers found that two of the tribal populations rank among the world’s highest in inherited genetic burden, with numbers “greater than five-fold higher than Ashkenazi Jews and Finnish populations.”
Approximately 2,700 people in the study carry genetic signatures indicating high inherited risk for recessive diseases. The study shows: “80% of them are from six DR_T populations, one AA_T and two IE_T populations.”
DR_T, AA_T, and IE_T are tribal communities in India classified by their primary language families – Dravidian, Austroasiatic, and Indo-European respectively.
This matters because many people in these communities may face serious health risks that doctors aren’t screening for.
European Science Doesn’t Fit India
The most important finding: genetic risk factors discovered through research on European subjects often don’t apply to Indian populations.
“Tribal groups (AA_T, DR_T) and the TB populations exhibit the largest divergence from gnomAD-EUR, whereas non-tribal Indo-European and Dravidian groups show more modest shifts,” the researchers noted in the study.
A genetic marker that predicts disease in a European patient may have no relevance to an Indian patient, or could mean something entirely different.
The researchers are clear about the consequence: “These patterns suggest that Eurocentric GWAS signals offer only partial insight into the disease risk estimates in these populations.”
In practical terms, Indian doctors using European medical guidelines for risk assessment for genetic diseases may be giving patients incorrect health advice.
Thousands of Uncharted Genetic Variants
The study identified enormous numbers of genetic mutations found in Indians that have never been properly documented in global medical databases.
The researchers discovered “approximately 1.5 million protein-coding variants” in the Indian population, with many completely absent from existing medical records. This means Indian doctors lack the reference materials they need to diagnose and treat inherited genetic disorders in their own patients.
What Needs to Change?
The researchers call for urgent action: “These findings underscore the urgent need for population-informed genetic counseling, carrier and newborn screening, and rare disease diagnostics into national health initiatives for equitable precision medicine.”
Overall, the study says that India needs to build its own genetic medicine framework rather than borrowing models from the West.
