Author Interviews, Brigham & Women's - Harvard, Cancer Research, Genetic Research, Nature / 18.04.2022
Brigham Researchers Develop Polygenic Risk Score Utilizing Diverse Genetic Databases
MedicalResearch.com Interview with:
Jason Vassy, MD, MPH
Brigham and Women's Hospital
Division of General Internal Medicine & Primary Care
Brigham’s Precision Population Health at Ariadne Labs
and VA Boston
MedicalResearch.com: What is the background for this study?
Response: A person’s risk of developing diseases such as type 2 diabetes or breast cancer may be influenced by thousands of genetic differences, the effects of which can be combined to derive a single score, often called a polygenic risk score (PRS). PRS might be useful to help patients and their physicians make tailored decisions about their health care, but several challenges to the clinical implementation of PRS remain. Most importantly, most PRS are less accurate in individuals of non-European descent, since most genomic research to date has been conducted in European populations.
Another key challenge is that physicians and patients will need support to understand polygenic risk score and use them to make medical decisions. Clinical guidelines do not yet exist to help a physician know whether and how they should treat a patient with a high-risk score differently than an average-risk patient. We designed the Genomic Medicine at VA (GenoVA) Study to address some of these challenges.
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