Title: Performance of polygenic risk scores in screening, prediction and population risk stratification
Abstract: A polygenic risk score represents the weighted sum of independent DNA sequence variants present in an individual’s genome that are associated with the risk of a particular disease. The increasing range and scale of genome wide association studies over the past decade, now spanning more than 2500 diseases or traits, has proliferated polygenic risk scores, with widespread interest in potential healthcare applications and attention from policy makers.
Claims have been made that polygenic risk scores generate “substantial” improvements in risk prediction, will “power a transformative change to healthcare”, and should be made ready to implement in practice. However, these claims have been disputed leading to disagreement on the utility of polygenic risk scores population screening, individual risk prediction, and population risk stratification, making their role in medicine and public health uncertain.
This talk reviews the performance of over 900 polygenic risk scores for over 300 diseases curated in the Polygenic Score Catalog using appropriate performance measures. It concludes that strong claims about the effect of polygenic risk scores on healthcare seem to be disproportionate to their performance.
Brief bio: Aroon Hingorani is UCL Professor of Genetic Epidemiology; former Director of the UCL Institute of Cardiovascular Science (2011-2021); Cardiovascular Programme Lead for the UCL Hospitals NIHR Biomedical Research Centre; Director of the UCL British Heart Foundation Research Accelerator; and Principal Investigator of the UKRI-NIHR-DHSC funded Multimorbidity Mechanisms and Therapeutics Research Collaborative. He is Consultant Physician at University College London Hospitals NHS Foundation Trust with subspecialty accreditation in Clinical Pharmacology and Therapeutics. He chairs the North Central London Joint Formulary Committee and is an NIHR Senior Investigator.
