A protocol for a systematic review of the cost-effectiveness of polygenic risk scores: a scenario-based and implementation-oriented synthesis

This research project aims to systematically assess the cost-effectiveness of polygenic risk scores (PRS) in disease prevention strategies. Although PRS have demonstrated potential to improve risk stratification and enable more personalized preventive interventions, existing economic evidence remains heterogeneous and difficult to compare. The primary objective of this study is to evaluate whether PRS-based approaches are cost-effective compared with standard care or alternative screening strategies, while also examining how different modelling assumptions and implementation scenarios influence economic outcomes. The project is based on a systematic review of peer-reviewed economic evaluations conducted in the general population. A scenario-based analytical framework will be applied to capture the full range of modelled prevention strategies reported in each study, rather than relying on a single summary estimate. Expected outcomes include a structured synthesis of cost-effectiveness results across disease areas, identification of key factors associated with favorable economic performance, and the generation of evidence to support policymakers and healthcare stakeholders in decisions regarding the integration of PRS into population-level prevention programs.