Statistical methods enhance prediction of genetic diseases in non-European populations and address health care equity.
A team of scientists at the Icahn School of Medicine at Mount Sinai has developed BridgePRS, a groundbreaking statistical method to better predict disease in people of non-European descent, particularly people of African descent. This development represents an important step towards reducing healthcare disparities and a future of more personalized and precise medical interventions based on genetic information. Details of their research can be found today (December 20, 2023). natural genetics.
Addressing healthcare inequalities with enhanced polygenic risk scores
Current polygenic risk scores (PRS) are essential tools for predicting disease risk; DNA, based on genetic data from individuals of primarily European descent. This bias makes statistics less accurate for people of African and Asian descent and exacerbates health care inequalities between different ethnic groups.
The researchers undertook this study to improve disease prediction from genetics in non-European populations. Although the main goal of personalized medicine is disease prevention, the current PRS is a weak predictor, especially in non-European populations.
Closing the gap in genetic disease prediction
“More genetic data from diverse ancestry is needed, but our method can help combine existing data to maximize disease prediction for all people,” says Genetics and Genome Sciences. Dr. Clive Hoggart, assistant professor and lead author of the paper, explained. “This progress is possible because the biology that causes disease is strikingly similar across ancestry.”
“We hope our method opens the door to scientific investigation of disease risk in diverse populations around the world,” said lead author Dr. Paul O’Reilly, associate professor of genetics and genomic sciences. “The prevalence of diseases and the importance of different biological pathways vary globally. Understanding these differences is critical to advancing disease prediction and treatment.”
The field of optimizing disease prediction using PRS is highly competitive and is driving rapid progress. Dr O’Reilly said: “Our BridgePRS method is particularly promising for predicting disease in people of African descent, a population with rich genetic diversity that can provide new insights into human disease. ” states.
While recognizing the potential of genetics and DNA in predicting future disease and the role of PRS in precision medicine, it is important to understand that the biology that causes disease does not differ significantly by ancestry group or race. It is important.
Reference: “BridgePRS exploits shared genetic effects between ancestors to improve portability of polygenic risk scores,” December 20, 2023, Nature Genetics.
DOI: 10.1038/s41588-023-01583-9
All remaining authors are Icahn Mount Sinai and Dr. Shing Wan Choi, except where noted. (Regeneron Genetics Center), Judit García-González, Ph.D., Tade Souaiaia, Ph.D. (Suny Downstate Health Sciences), and Michael Prouss, Ph.D.
This research was funded by grant number R01MH122866 from the National Institute of Mental Health and grant number R01HG012773 from the National Human Genome Research Institute.
Source: scitechdaily.com