In this GEN Keynote Webinar, Sekar Kathiresan, MD, Co-Founder & CEO of Verve Therapeutics and renowned physician-scientist who has produced major advances on the development and deployment of polygenic risk scores (PRSs), will discuss advances in our understanding of complex genetic diseases and the current state of development and validation for PRSs. Dr. Kathiresan will also discuss the potential for these scores to improve clinical care.
Complex genetic disorders affect millions of people and range in severity from manageable to life-threatening. These diseases, including cardiovascular disease, diabetes, and many neurological disorders, typically involve multiple genetic factors that often seem unrelated. So long as the relationships between the genetic factors remain unclear, it will be difficult to predict who will ultimately develop these conditions.
But what if we could make sense of the genetic factors? Then we’d be able to predict disease risk, disease severity, and treatment response. In recent years, many investigators have realized that predictive insights could come from PRSs—a quantitative genetic probability assessment for a disease. PRSs distill the risk that comes from millions of common DNA variants into a single risk number. Such disease-specific PRSs have been developed and validated for a number of common complex diseases, including coronary artery disease, breast cancer, and inflammatory bowel disease.