Sanderson Saskia C, Inouye Michael
Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Department of Behavioural Science and Health, University College London, London, UK.
Nat Hum Behav. 2025 May 12. doi: 10.1038/s41562-025-02200-x.
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.
多基因风险评分（PRS）用一个数字概括了个体基于该评分中包含的常见DNA变异与特定性状或疾病的估计遗传关联。疾病PRS有潜力通过改善疾病风险预测来对人群健康产生积极影响，从而也有可能改善疾病预防、早期干预和治疗。然而，鉴于其潜在的心理、行为及其他危害，人们也对将PRS整合到临床工具和医疗保健系统中存在担忧。在此，我们评估了围绕心理和行为因素的、反对在临床实践中对身体疾病实施PRS的五个论点。对于每个论点，我们都考虑了一个反驳论点、证据及基础理论、证据基础中的任何差距以及可能的未来方向和研究重点。我们得出结论，尽管实施可能还存在其他障碍，但目前几乎没有证据表明将PRS整合到实践中会造成心理或行为危害。
