期刊
NATURE MEDICINE
卷 27, 期 11, 页码 1876-1884出版社
NATURE PORTFOLIO
DOI: 10.1038/s41591-021-01549-6
关键词
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资金
- NIH [HL135824, HL109946, HL127564, R00 MH117229]
- JSPS KAKENHI [19H01021, 20K21834]
- AMED [JP21km0405211, JP21ek0109413, JP21gm4010006, JP21km0405217, JP21ek0410075]
- JST Moonshot RD [JPMJMS2021]
- Academy of Finland Center of Excellence in Complex Disease Genetics [312062, 336820]
- Horizon 2020 Research and Innovation Programme [101016775]
- PERSPECTIVE IAMP
- I project - Government of Canada through Genome Canada
- Canadian Institutes of Health Research
- 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 and Medicine
- Open Philanthropy [010623-00001]
- Russell Sage Foundation
- JPB Foundation [1903-13498]
- National Institute on Aging [R01AG042568-04, R24AG065184]
- Canadian Institutes of Health Research [CIHR: 365825, 409511, 100558, 169303]
- McGill Interdisciplinary Initiative in Infection and Immunity (MI4)
- Lady Davis Institute of the Jewish General Hospital
- Jewish General Hospital Foundation
- Canadian Foundation for Innovation
- NIH Foundation
- Cancer Research UK
- Genome Quebec
- Public Health Agency of Canada
- McGill University
- Cancer Research UK [C18281/A29019]
- Fonds de Recherche Quebec Sante (FRQS)
- FRQS Merite Clinical Research Scholarship
- Calcul Quebec
- Compute Canada
- Welcome Trust
- Medical Research Council
- European Union
- National Institute for Health Research (NIHR)
- Munz Chair of Cardiovascular Prediction and Prevention
- Victorian Government's Operational Infrastructure Support (OIS) program
- UK Medical Research Council [MR/L003120/1]
- British Heart Foundation [RG/13/13/30194, RG/18/13/33946]
- National Institute for Health Research (Cambridge Biomedical Research Centre at the Cambridge University Hospitals NHS Foundation Trust)
- Health Data Research UK - UK Medical Research Council
- Economic and Social Research Council
- Department of Health and Social Care (England)
- Chief Scientist Office of the Scottish Government Health and Social Care Directorates
- Health and Social Care Research and Development Division (Welsh Government)
- Public Health Agency (Northern Ireland)
- British Heart Foundation
- Wellcome
- UK Economic and Social Research Council (ESRC) [ES/T013192/1]
- Wellcome International Intermediate fellowship at the MRC/UVRI [220740/Z/20/Z]
- LSHTM
- ANID Chile [FONDEF D10E1007, FONDECYT 1191948, COVID0961]
- Engineering and Physical Sciences Research Council
- Wellcome Trust [220740/Z/20/Z] Funding Source: Wellcome Trust
- Academy of Finland (AKA) [336820] Funding Source: Academy of Finland (AKA)
- ESRC [ES/T013192/1] Funding Source: UKRI
- Grants-in-Aid for Scientific Research [19H01021, 20K21834] Funding Source: KAKEN
Polygenic risk scores (PRSs) aggregate multiple small effects of alleles in the human genome to estimate an individual's risk of disease or disease-related traits. By addressing key issues, PRSs can be used responsibly to improve human health.
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.
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