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Published on February 20, 2024
A team of researchers from The Broad Institute at MIT and Harvard University, in collaboration with 10 other academic medical centers have implemented the use of polygenic risk scores (PRS) for use in clinical research, with an eye toward moving them into clinical care for chronic diseases. The research, published…
Published on December 21, 2023
A new polygenic risk score (PRS) improves disease prediction for people with African or Asian ancestry, offering the chance to redress healthcare inequalities and widen the scope of personalized medicine. The BridgePRS, published in Nature Genetics, predicts disease risk from DNA better than other similar risk scores, which are mostly…
Published on June 14, 2023
Researchers from the Institute for Molecular Medicine Finland (FIMM) have demonstrated that a colorectal cancer (CRC) polygenic risk score (PRS) they have developed has the potential to inform the timing of when patients should begin screening for the disease. Use of the PRS could help address the fact that despite…
Published on May 3, 2023
Research shows polygenic risk scores (PRS) modestly but significantly improve risk predictions for atherosclerotic cardiovascular disease in the diverse Million Veteran Program cohort. Writing in JAMA Cardiology, Jason Vassy, an associate professor at Harvard Medical School and a clinician at Veterans Affairs Boston Healthcare System, and colleagues report that having…
Published on February 23, 2023
Polygenic risk score technology company Allelica announced that it will work with SP BioMED to conduct a study of breast cancer polygenic risk scores (PRS) using data of known breast cancer cases found in Taiwanese biobanks. The goal of the study is to determine the best technology to leverage for…
Published on August 23, 2022
Researchers at the Smidt Heart Institute at Cedars-Sinai have developed a polygenic risk score (PRS) that helps predict which cardiovascular disease patients are at increased risk of sudden and/or arrhythmic death. Roopinder Sandhu, M.D., associate professor of Cardiology at the Smidt Heart Institute, and colleagues eventually hope to add this…
Published on May 20, 2022
A U.K. study based on a group of British Pakistani and British Bangladeshi individuals suggests that polygenic risk scores (PRS) could help to predict diabetes risk in this group, but also highlights that more, large background studies are needed to ensure that all relevant genetic variants are identified. South Asian…
Published on May 3, 2022
Allelica and Invitae announced today a collaboration to develop a polygenic risk score (PRS) for breast cancer across a broad range of ancestries aimed at decreasing the performance gap for PRS for and improve breast cancer risk assessment for all women, regardless of ethnicity. The partnership will leverage artificial intelligence…
Published on April 8, 2022
Polygenic risk scores (PRS)—which quantify inherited risk by integrating multiple sites of DNA variation—promise a more personalized approach to medicine. For many years, academic groups have been grappling with the mechanics of creating PRS, relying on large-scale GWAS analyses from large patient cohorts like the UK Biobank and others to…
Published on January 28, 2022
The European Society for Human Genetics (ESHG) has made a strong statement against the use of polygenic risk scores (PRS) for pre-implantation genetic testing of embryos generated for use in in vitro fertilization (IVF). In a viewpoint paper published in the European Journal of Human Genetics and presented to the…
Published on April 9, 2021
Polygenic risk scores (PRS) have advanced enormously in recent years and are now well on their way to becoming an established part of modern medicine. But there are still some issues such as accuracy and applicability that need to be solved before they can truly become mainstream. With increasingly sophisticated…
Published on March 11, 2021
A 22-item framework has been published identifying the minimal polygenic risk score-related information scientists should include in their studies. Created by NHGRI’s Clinical Genome Resource’s (ClinGen) Complex Disease Working Group and the Polygenic Score Catalog (PGS), an open database of polygenic risk scores, the authors hope this framework will help promote the validity, transparency,…
Published on October 7, 2020
Researchers based at the RIKEN Center for Integrative Medical Sciences in Yokohama have created a highly accurate polygenic risk score for predicting coronary artery disease risk by combining genome wide association study (GWAS) data from a large Japanese cohort with two European cohorts with more than 600,000 participants in total.…
Published on September 9, 2020
Research originally focused on a way to determine the viability of batches of tiny liver organoids led the investigators to devise a polygenic risk score (PRS) that shows when a drug—whether developmental or already approved—poses a risk of drug-induced liver injury (DILI). The researchers, comprised teams at Cincinnati Children’s Hospital…
Published on September 3, 2020
Two large international studies shed light on the genetics behind blood diseases and suggest polygenic risk scores can be used to predict the likelihood that someone will develop one of these conditions. The two studies are published in the journal Cell and identified thousands of genomic regions involved in the…