US study identifies over 275 million new genetic variants from NIH research programme
Researchers from the US have discovered more than 275 million genetic variants identified through the National Institutes of Health’s (NIH) All of Us Research Program. Researchers could use the findings to better understand the genetic influences on health and disease.
Published in Nature, the study findings could open up new pathways for researchers to better understand the genetic influences on health and disease in research.
Launched in 2018, the All of Us Research Program aims to gather health data from one million or more people living in the US to accelerate research and improve health.
So far, more than 750,000 people have enrolled in the programme and have contributed data from DNA, electronic health records, wearable devices and surveys.
The study identified nearly four million new variants in areas that may be tied to disease risk. Details of this genomic data are currently available to registered researchers in the Researcher Workbench, the programme’s platform for data analysis.
Researchers also observed that 50% of the genomic data is from participants of non-European genetic ancestry.
Previous studies have shown that more than 90% of participants in large genomic studies have been of European genetic ancestry, which has led to a narrow understanding of the biology of diseases and impeded the development of new treatments and prevention strategies for all populations, said NIH Institute and Center directors.
“As a physician, I’ve seen the impact the lack of diversity in genomic research has had in deepening health disparities and limiting care for patients,” said Josh Denny, chief executive officer, All of Us Research Program.
He added that contributions of DNA and other health information from participants in the programme “is setting a course for a future where scientific discovery is more inclusive, with broader benefits for all”.
Despite further research being needed to tailor genetic testing recommendations for specific populations, researchers suggest the differing number of these variants could be influenced by past studies’ limited diversity and their disease-focused approach to participant enrolment as opposed to a difference in the prevalence of variants.
Karriem Watson, chief engagement officer, All of Us Research Program, said: “To ensure that populations historical underrepresented in biomedical research can also benefit from future scientific discoveries… building awareness and improving access to medical research” is crucial.
February 23, 2024
