Psychological and behavioural considerations for integrating polygenic risk scores for disease into clinical practice

Abstract

A polygenic risk score (PRS) summarizes in one number an individual’s estimated genetic association with a specific trait or disease based on the common DNA variants included in the score. Disease PRSs have the potential to positively affect population health by improving disease risk prediction, thereby also potentially improving disease prevention, early intervention and treatment. However, given the potential psychological, behavioural and other harms, there are also concerns about integrating PRSs into clinical tools and healthcare systems. Here we assess five arguments against implementing PRSs for physical disease in clinical practice that revolve around psychological and behavioural considerations. For each argument, we consider a counterargument, the evidence and underlying theory, any gaps in the evidence base and possible future directions and research priorities. We conclude that, although there may be other barriers to implementation, there is currently little evidence of psychological or behavioural harms from integrating PRSs into practice.