Open Access BASE2021

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

Adeyemo, Adebowale; Balaconis, Mary K; Darnes, Deanna R; Fatumo, Segun; Granados Moreno, Palmira; Hodonsky, Chani J; Inouye, Michael; Kanai, Masahiro; Kato, Kazuto; Knoppers, Bartha M; Lewis, Anna C. F; Martin, Alicia R; McCarthy, Mark I; Meyer, Michelle N; Okada, Yukinori; Richards, J. Brent; Richter, Lucas; Ripatti, Samuli; Rotimi, Charles N; Sanderson, Saskia C; Sturm, Amy C; Verdugo Salgado, Ricardo Alejandro; Widen, Elisabeth; Willer, Cristen J; Wojcik, Genevieve L; Zhou, Alicia

Open Access

Abstract

Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human genome to estimate the risk of a disease or disease-related trait for an individual. The potential benefits of PRSs include cost-effective enhancement of primary disease prevention, more refined diagnoses and improved precision when prescribing medicines. However, these must be weighed against the potential risks, such as uncertainties and biases in PRS performance, as well as potential misunderstanding and misuse of these within medical practice and in wider society. By addressing key issues including gaps in best practices, risk communication and regulatory frameworks, PRSs can be used responsibly to improve human health. Here, the International Common Disease Alliance's PRS Task Force, a multidisciplinary group comprising expertise in genetics, law, ethics, behavioral science and more, highlights recent research to provide a comprehensive summary of the state of polygenic score research, as well as the needs and challenges as PRSs move closer to widespread use in the clinic. As polygenic risk scores move closer to widespread clinical use, this Perspective summarizes the benefits, risks and challenges to be overcome. ; United States Department of Health & Human Services National Institutes of Health (NIH) - USA HL135824 HL109946 HL127564 R00 MH117229 Ministry of Education, Culture, Sports, Science and Technology, Japan (MEXT) Japan Society for the Promotion of Science Grants-in-Aid for Scientific Research (KAKENHI) 19H01021 20K21834 AMED JP21km0405211 JP21ek0109413 JP21gm4010006 JP21km0405217 JP21ek0410075 JST Moonshot RD JPMJMS2021 Academy of Finland 312062 336820 Horizon 2020 Research and Innovation Programme 101016775 PERSPECTIVE IAMP;I project - Government of Canada through Genome Canada Canadian Institutes of Health Research (CIHR) Ministere de l'Economie et de l'Innovation du Quebec through Genome Quebec Quebec Breast Cancer Foundation CHU de Quebec Foundation Ontario Research Fund Canada Research Chair in Law ...

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