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…

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…

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…

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…

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…

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,…

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…

A new study confirms that the whole-genome approach for predicting heart disease in people who have never had a heart attack works and can be used in populations other than the ones used to develop them. The methods involve calculating a polygenic risk score (PRS) based millions of variants identified…

Polygenic risk scores (PRSs) are a new technology that seems to be everywhere lately. In fact, 23andMe recently announced that they are offering a PRS for diabetes. And, while PRSs may serve some people well, a new study suggests that their usefulness is limited by the lack of diversity in…

A recent genome-wide association study (GWAS) focused on polygenic risk scores (PRS) received the type of attention usually reserved for groundbreaking science, including stories in Forbes and The New York Times. The researchers, led by Sekar Kathiresan, M.D., director of the Center for Genomic Medicine at Massachusetts General Hospital, demonstrated…

Blood proteins may be better than clinical information at determining a person’s risk of developing 67 diseases within the next 10 years, according to information collected through the UK Biobank. The findings demonstrate how thousands of proteins measured in a single blood sample can predict the onset of diverse diseases.…

Already a popular topic, the launch of the large language model-based chatbot, ChatGPT, at the end of 2022 increased excitement around artificial intelligence (AI) in the media to fever pitch. This event triggered many heated debates about the technology and its numerous potential applications over the past 12 months. There…

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…

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…

Observational research led by Shandong University in China suggests poor sleep can increase a person’s risk of developing asthma, particularly if they also have a genetic susceptibility to the condition. Asthma is a chronic inflammatory condition impacting the respiratory system that affects millions of people around the world. While it…