Mount Sinai researchers develop novel method to improve disease prediction across diverse ancestries

A team of scientists from Icahn School of Medicine at Mount Sinai has developed a groundbreaking statistical technique, “BridgePRS,” to enhance disease prediction in people of non-European ancestry, particularly those of African descent. This development represents a substantial step towards reducing health care inequities and a future of more personalized and precise medical interventions based on genetic information. Details of their work were published in Nature Genetics on Wednesday, December 20.

Current polygenic risk scores (PRS), essential tools for predicting disease risk encoded in our DNA, are predominantly based on genetic data from individuals of European ancestry. This bias makes them less accurate for people of African or Asian ancestry, exacerbating health care inequity among different ethnic groups.

The researchers embarked on this study to improve disease prediction from genetics in non-European individuals. A key goal of personalized medicine is disease prevention, yet current PRS are weak predictors, especially in non-European populations. 

“While we need more genetic data from diverse ancestries, our method combines existing data to help maximize disease prediction across all people,” explained Clive Hoggart, Ph.D., Assistant Professor of Genetics and Genomic Sciences and lead author of the paper. “The biology causing diseases is remarkably similar across ancestries, enabling this advancement.”

“We hope that our method opens up scientific investigation of disease risk in diverse populations worldwide,” stated Paul O’Reilly, Ph.D., Associate Professor of Genetics and Genomic Sciences and senior author. “Disease prevalence and the importance of different biological pathways can vary globally. Understanding these differences is crucial for advancing disease prediction and treatment.”

The field of optimizing disease prediction through PRS Is highly competitive, fostering rapid advancements. Dr. O’Reilly notes, “Our BridgePRS method is particularly promising for predicting disease in individuals of African ancestry, a group with rich genetic diversity that can offer novel insights into human diseases.”

While recognizing the potential of genetics and DNA in predicting future disease and the role of PRS in precision medicine, it’s vital to understand that the biology causing diseases does not differ significantly across ancestry groups or races.

The paper is titled “BridgePRS leverages shared genetic effects across ancestries to increase polygenic risk score portability.” 

The remaining authors, all with Icahn Mount Sinai except where indicated, are Shing Wan Choi, Ph.D. (Regeneron Genetics Center), Judit García-González, Ph.D., Tade Souaiaia, Ph.D. (Suny Downstate Health Sciences), and Michael Preuss, Ph.D. 

The study was funded by grant number R01MH122866 from the National Institute of Mental Health and grant number R01HG012773 from the National Human Genome Research Institute. 

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About the Icahn School of Medicine at Mount Sinai
The Icahn School of Medicine at Mount Sinai is internationally renowned for its outstanding research, educational, and clinical care programs. It is the sole academic partner for the eight- member hospitals* of the Mount Sinai Health System, one of the largest academic health systems in the United States, providing care to a large and diverse patient population.  
 
Ranked 14th nationwide in National Institutes of Health (NIH) funding and among the 99th percentile in research dollars per investigator according to the Association of American Medical Colleges, Icahn Mount Sinai has a talented, productive, and successful faculty. More than 3,000 full-time scientists, educators, and clinicians work within and across 44 academic departments and 36 multidisciplinary institutes, a structure that facilitates tremendous collaboration and synergy. Our emphasis on translational research and therapeutics is evident in such diverse areas as genomics/big data, virology, neuroscience, cardiology, geriatrics, as well as gastrointestinal and liver diseases. 
 
Icahn Mount Sinai offers highly competitive MD, PhD, and Master’s degree programs, with current enrollment of approximately 1,300 students. It has the largest graduate medical education program in the country, with more than 2,000 clinical residents and fellows training throughout the Health System. In addition, more than 550 postdoctoral research fellows are in training within the Health System. 
 
A culture of innovation and discovery permeates every Icahn Mount Sinai program. Mount Sinai’s technology transfer office, one of the largest in the country, partners with faculty and trainees to pursue optimal commercialization of intellectual property to ensure that Mount Sinai discoveries and innovations translate into healthcare products and services that benefit the public. 
 
Icahn Mount Sinai’s commitment to breakthrough science and clinical care is enhanced by academic affiliations that supplement and complement the School’s programs. 

Through the Mount Sinai Innovation Partners (MSIP), the Health System facilitates the real-world application and commercialization of medical breakthroughs made at Mount Sinai. Additionally, MSIP develops research partnerships with industry leaders such as Merck & Co., AstraZeneca, Novo Nordisk, and others. 
 
The Icahn School of Medicine at Mount Sinai is located in New York City on the border between the Upper East Side and East Harlem, and classroom teaching takes place on a campus facing Central Park. Icahn Mount Sinai’s location offers many opportunities to interact with and care for diverse communities. Learning extends well beyond the borders of our physical campus, to the eight hospitals of the Mount Sinai Health System, our academic affiliates, and globally. 
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* Mount Sinai Health System member hospitals: The Mount Sinai Hospital; Mount Sinai Beth Israel; Mount Sinai Brooklyn; Mount Sinai Morningside; Mount Sinai Queens; Mount Sinai South Nassau; Mount Sinai West; and New York Eye and Ear Infirmary of Mount Sinai