Polygenic risk scores in the clinic: Translating risk into action

Abstract

Polygenic risk scores (PRSs) are heralded as useful tools for risk stratification and personalized preventive care, but they are clinically useful only if they can be translated into action. The risk information conveyed by a PRS must be contextualized to enable this. Best practices are evolving but are likely to involve integrating a PRS into an absolute risk model and using guideline-driven care linked to a specific threshold of risk. Because this approach is not currently available for most diseases, it may be necessary to use different methods of presenting risk and linking it to appropriate clinical action. We discuss the trade-offs of each strategy and argue for transparent communication to providers and patients of the imprecision in both risk estimates and action thresholds for PRSs.

Topics & Concepts