Pioneering a New Path in Disease Prediction for Diverse Ethnic Groups at Mount Sinai

by Tatsuya Nakamura

Mount Sinai’s Icahn School of Medicine research team has introduced “BridgePRS,” a novel statistical approach designed to enhance disease prediction accuracy in individuals of non-European ancestry, particularly those with African roots. This method aims to overcome the shortcomings of existing polygenic risk scores, which show reduced precision for non-European lineages. This breakthrough signifies a crucial stride in personalized healthcare and mitigating disparities in medical treatment. Source:

Enhancement in Genetic Disease Prediction for Non-European Demographics Addresses Health Equity.

Scientists at the Icahn School of Medicine at Mount Sinai have pioneered a new statistical method, named “BridgePRS,” aiming to better predict diseases in people with non-European backgrounds, with a focus on African descent. This advancement marks a major leap towards eliminating disparities in healthcare and heralds a future of more individualized and accurate medical approaches based on genetic makeup. The findings were published on December 20, 2023, in Nature Genetics.

Advancing Healthcare Equity Through Improved Polygenic Risk Scores

Presently, polygenic risk scores (PRS), which are vital for forecasting genetic disease risks, rely heavily on genetic data from European descendants. This bias results in reduced accuracy for individuals of African or Asian descent, leading to healthcare disparities among various ethnic groups.

The research aimed to refine genetic disease predictions for non-European populations. Personalized medicine’s key objective is disease prevention, but existing PRS have shown limited efficacy in predicting diseases, especially in non-European groups.

BridgePRS offers enhanced disease prediction for individuals of African descent in the New York BioMe cohort. Acknowledgement: Icahn School of Medicine at Mount Sinai

Narrowing the Divide in Genetic Disease Prediction

“Although we need more genetic data from varied ancestries, our approach integrates existing data to optimize disease prediction universally,” stated Clive Hoggart, Ph.D., Assistant Professor of Genetics and Genomic Sciences and the paper’s lead author. “The underlying biology of diseases is largely consistent across ancestries, which facilitates this progress.”

“Our goal with this method is to broaden research on disease risk in diverse global populations,” said Paul O’Reilly, Ph.D., Associate Professor of Genetics and Genomic Sciences and the study’s senior author. “The prevalence of diseases and the significance of different biological pathways can differ internationally. Understanding these variances is vital for enhancing disease prediction and treatment.”

The pursuit of improving disease prediction through PRS is a competitive area, driving rapid developments. Dr. O’Reilly highlights, “Our BridgePRS method shows particular promise in predicting diseases in individuals of African ancestry, whose genetic diversity can reveal new perspectives on human diseases.”

Acknowledging the potential of genetics and DNA in forecasting diseases and the significance of PRS in precision healthcare, it is important to note that the biology behind diseases does not substantially vary across different ancestry groups or races.

Citation: “BridgePRS leverages shared genetic effects across ancestries to increase polygenic risk score portability” 20 December 2023, Nature Genetics.
DOI: 10.1038/s41588-023-01583-9

Other contributors from Icahn Mount Sinai include 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 project received funding from the National Institute of Mental Health (grant number R01MH122866) and the National Human Genome Research Institute (grant number R01HG012773).

Frequently Asked Questions (FAQs) about BridgePRS

What is BridgePRS and who developed it?

BridgePRS is a new statistical technique developed by the team at the Icahn School of Medicine at Mount Sinai. It’s designed to improve disease prediction in individuals of non-European ancestry, especially those of African descent, addressing the limitations of current polygenic risk scores.

How does BridgePRS differ from current polygenic risk scores?

Current polygenic risk scores are predominantly based on genetic data from European ancestries, leading to less accuracy for people of African or Asian descent. BridgePRS addresses this gap, enhancing disease prediction in non-European populations and contributing to healthcare equity.

What are the goals of the BridgePRS technique?

The main goals of BridgePRS are to reduce healthcare inequities by providing more accurate disease predictions for non-European populations and to advance personalized medicine. It seeks to make medical interventions more precise and individualized based on genetic information.

Where was the research on BridgePRS published?

The research findings on BridgePRS were published on December 20, 2023, in Nature Genetics.

Who are the main researchers involved in the development of BridgePRS?

The main researchers include Clive Hoggart, Ph.D., Assistant Professor of Genetics and Genomic Sciences, and Paul O’Reilly, Ph.D., Associate Professor of Genetics and Genomic Sciences, both at the Icahn School of Medicine at Mount Sinai.

What is the significance of BridgePRS in terms of global health?

BridgePRS is significant in terms of global health as it helps understand disease prevalence and biological pathways that vary globally, enhancing disease prediction and treatment. It also plays a crucial role in bridging the gap in healthcare disparities among different ethnic groups.

More about BridgePRS

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genetics_nerd December 20, 2023 - 11:46 am

bridgeprs sounds promising, but theres always a but, isn’t it? how accurate is it really? we need more data from diverse populations to be sure.

Curious_Mind December 20, 2023 - 12:02 pm

first time hearing about polygenic risk scores, it’s kinda mind-blowing how genetics can predict diseases. Science never ceases to amaze me!

HealthGuru101 December 20, 2023 - 12:16 pm

So impressive, Mount Sinai always at the forefront of medical research… But I wonder, how will this impact the current medical practices?

MedicalWatchdog December 20, 2023 - 7:44 pm

Good step forward, but lets not forget, access to healthcare is still a major issue in many parts of the world. How does BridgePRS fit into the bigger picture?

Jessy34 December 20, 2023 - 10:18 pm

wow this is huge news for healthcare, finally addressing those gaps in disease prediction for non-european groups!


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