TY - JOUR
T1 - Responsible use of polygenic risk scores in the clinic
T2 - potential benefits, risks and gaps
AU - Polygenic Risk Score Task Force of the International Common Disease Alliance
AU - Adeyemo, Adebowale
AU - Balaconis, Mary K.
AU - Darnes, Deanna R.
AU - Fatumo, Segun
AU - Granados Moreno, Palmira
AU - Hodonsky, Chani J.
AU - Inouye, Michael
AU - Kanai, Masahiro
AU - Kato, Kazuto
AU - Knoppers, Bartha M.
AU - Lewis, Anna C.F.
AU - Martin, Alicia R.
AU - McCarthy, Mark I.
AU - Meyer, Michelle N.
AU - Okada, Yukinori
AU - Richards, J. Brent
AU - Richter, Lucas
AU - Ripatti, Samuli
AU - Rotimi, Charles N.
AU - Sanderson, Saskia C.
AU - Sturm, Amy C.
AU - Verdugo, Ricardo A.
AU - Widen, Elisabeth
AU - Willer, Cristen J.
AU - Wojcik, Genevieve L.
AU - Zhou, Alicia
N1 - Publisher Copyright:
© 2021, Springer Nature America, Inc.
PY - 2021/11
Y1 - 2021/11
N2 - 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.
AB - 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.
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U2 - 10.1038/s41591-021-01549-6
DO - 10.1038/s41591-021-01549-6
M3 - Review article
C2 - 34782789
AN - SCOPUS:85119596771
SN - 1078-8956
VL - 27
SP - 1876
EP - 1884
JO - Nature medicine
JF - Nature medicine
IS - 11
ER -