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Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps
| Indexado |
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| DOI | 10.1038/S41591-021-01549-6 | ||||
| Año | 2021 | ||||
| Tipo | artículo de investigación |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
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.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | Adeyemo, Adebowale | - |
National Human Genome Research Institute (NHGRI) - Estados Unidos
NHGRI - Estados Unidos |
| 2 | Balaconis, Mary K. | Mujer |
Broad Institute - Estados Unidos
Harvard University - Estados Unidos Broad Inst Harvard & MIT - Estados Unidos |
| 3 | Darnes, Deanna R. | Mujer |
Fetal Care Center - Estados Unidos
Fetal Care Ctr Dallas - Estados Unidos Fetal Care Center Dallas - Estados Unidos |
| 4 | Fatumo, Segun | - |
London School of Hygiene & Tropical Medicine - Reino Unido
MRC/UVRI and LSHTM Uganda Research Unit - Uganda Center for Genomics Research and Innovation (CGRI)/National Biotechnology Development Agency CGRI/NABDA - Nigeria Uganda Med Informat Ctr UMIC - Uganda Natl Biotechnol Dev Agcy CGRI - Nigeria London Sch Hyg & Trop Med - Reino Unido |
| 5 | Gutierrez Moreno, Patricia | Mujer |
McGill Faculty of Medicine and Health Sciences - Canadá
MCGILL UNIV - Canadá |
| 6 | Hodonsky, Chani J. | - |
University of Virginia School of Medicine - Estados Unidos
UNIV VIRGINIA - Estados Unidos |
| 7 | Inouye, Michael | Hombre |
Department of Public Health and Primary Care - Reino Unido
Baker Heart and Diabetes Institute - Australia School of Clinical Medicine - Reino Unido University of Cambridge - Reino Unido Cambridge University Hospitals NHS Foundation Trust - Reino Unido Alan Turing Institute - Reino Unido Baker Heart & Diabet Inst - Australia Wellcome Genome Campus - Reino Unido UNIV CAMBRIDGE - Reino Unido Cambridge Univ Hosp NHS Fdn Trust - Reino Unido Alan Turing Inst - Reino Unido The Alan Turing Institute - Reino Unido |
| 8 | Kanai, Masahiro | Hombre |
Massachusetts General Hospital - Estados Unidos
Broad Institute - Estados Unidos Graduate School of Medicine - Japón Harvard University - Estados Unidos Osaka Univ - Japón MASSACHUSETTS GEN HOSP - Estados Unidos Broad Inst Harvard & MIT - Estados Unidos |
| 9 | Kato, Kazuto | Hombre |
Graduate School of Medicine - Japón
Osaka Univ - Japón |
| 10 | Knoppers, Bartha M. | - |
McGill Faculty of Medicine and Health Sciences - Canadá
MCGILL UNIV - Canadá |
| 11 | Lewis, Anna C.F. | Mujer |
Harvard University - Estados Unidos
|
| 12 | Martin, Alicia R. | Mujer |
Massachusetts General Hospital - Estados Unidos
Broad Institute - Estados Unidos Harvard University - Estados Unidos MASSACHUSETTS GEN HOSP - Estados Unidos Broad Inst Harvard & MIT - Estados Unidos |
| 13 | McCarthy, Mark | Hombre |
Genentech Incorporated - Estados Unidos
Genentech Inc - Estados Unidos Genentech, Inc - Estados Unidos |
| 14 | Meyer, Michelle N. | Mujer |
Geisinger - Estados Unidos
|
| 15 | Okada, Yukinori | Hombre |
Graduate School of Medicine - Japón
Osaka Univ - Japón |
| 16 | Richards, J. Brent | - |
Lady Davis Institute for Medical Research - Canadá
Université McGill - Canadá McGill Faculty of Medicine and Health Sciences - Canadá Jewish Gen Hosp - Canadá MCGILL UNIV - Canadá Institut Lady Davis de Recherches Médicales - Canadá |
| 17 | Richter, Lucas | Hombre |
Vanderbilt University School of Medicine - Estados Unidos
Vanderbilt Univ - Estados Unidos |
| 18 | Ripatti, Samuli | Hombre |
Massachusetts General Hospital - Estados Unidos
Broad Institute - Estados Unidos Helsingin Yliopisto - Finlandia Harvard University - Estados Unidos Univ Helsinki - Finlandia MASSACHUSETTS GEN HOSP - Estados Unidos Broad Inst Harvard & MIT - Estados Unidos |
| 19 | Rotimi, Charles N. | Hombre |
National Human Genome Research Institute (NHGRI) - Estados Unidos
NHGRI - Estados Unidos |
| 20 | Sanderson, Saskia C. | Mujer |
University College London - Reino Unido
Future Health Research - Reino Unido PHG Foundation - Reino Unido Our Future Hlth - Reino Unido PHG Fdn - Reino Unido Our Future Health - Reino Unido UCL - Reino Unido |
| 21 | Sturm, Amy C. | Mujer |
Geisinger - Estados Unidos
|
| 22 | Verdugo, R. | Hombre |
Universidad de Chile - Chile
Faculty of Sciences - Chile Fac Med - Chile |
| 23 | Widen, Elisabeth | Mujer |
Helsingin Yliopisto - Finlandia
Univ Helsinki - Finlandia |
| 24 | Willer, Cristen J. | - |
University of Michigan Medical School - Estados Unidos
UNIV MICHIGAN - Estados Unidos |
| 25 | Wojcik, Genevieve L. | Mujer |
Johns Hopkins Bloomberg School of Public Health - Estados Unidos
Johns Hopkins Bloomberg Sch Publ Hlth - Estados Unidos |
| 26 | Zhou, Alicia | Mujer |
Color Genomics - Estados Unidos
Color Genom - Estados Unidos |
| 27 | Int Common Dis Alliance | Corporación |
| Fuente |
|---|
| NIH |
| Fondo Nacional de Desarrollo Científico y Tecnológico |
| National Institutes of Health |
| European Commission |
| European Union |
| Fondo de Fomento al Desarrollo Científico y Tecnológico |
| Genome Canada |
| JSPS KAKENHI |
| Economic and Social Research Council |
| Medical Research Council |
| Wellcome Trust |
| Japan Society for the Promotion of Science |
| Canadian Institutes of Health Research |
| GlaxoSmithKline |
| UK Medical Research Council |
| Wellcome |
| British Heart Foundation |
| Welcome Trust |
| Engineering and Physical Sciences Research Council |
| Compute Canada |
| Horizon 2020 |
| Cancer Research UK |
| Public Health Agency of Canada |
| Horizon 2020 Framework Programme |
| Canada Foundation for Innovation |
| National Institute for Health Research (NIHR) |
| National Institute on Aging |
| Government of Canada |
| Canadian Foundation for Innovation |
| Japan Agency for Medical Research and Development |
| Genome Quebec |
| Calcul Quebec |
| National Institute for Health Research |
| Eli Lilly and Company |
| McGill University |
| Canada Research Chairs |
| London School of Hygiene and Tropical Medicine |
| Health Data Research UK |
| Russell Sage Foundation |
| Ontario Research Fund |
| AMED |
| Biogen |
| Academy of Finland Center of Excellence in Complex Disease Genetics |
| State Government of Victoria |
| UK Economic and Social Research Council (ESRC) |
| JPB Foundation |
| Fonds de Recherche du Québec - Santé |
| University Hospitals Bristol NHS Foundation Trust |
| Health and Social Care Research and Development Division |
| ANID Chile |
| Public Health Agency |
| Chief Scientist Office of the Scottish Government Health and Social Care Directorates |
| Health Data Research UK - UK Medical Research Council |
| Health and Social Care Research and Development Division (Welsh Government) |
| Public Health Agency (Northern Ireland) |
| Department of Health and Social Care (England) |
| UK Medical Research Council, Engineering and Physical Sciences Research Council |
| Department of Health and Social Care (England), Chief Scientist Office of the Scottish Government Health and Social Care Directorates |
| Ontario Research Foundation |
| Fondation CHU de Québec |
| NIH Foundation |
| Lady Davis Institute of the Jewish General Hospital |
| UVRI |
| Jewish General Hospital Foundation |
| McGill Interdisciplinary Initiative in Infection and Immunity |
| Wellcome International Intermediate |
| Fondation du cancer du sein du Québec |
| JST Moonshot R&D |
| Ministère de l’Économie et de l’Innovation du Québec |
| Horizon 2020 Research and Innovation Programme |
| Ministere de l'Economie et de l'Innovation du Quebec through Genome Quebec |
| McGill Interdisciplinary Initiative in Infection and Immunity (MI4) |
| Open Philanthropy |
| JST Moonshot RD |
| Quebec Breast Cancer Foundation |
| PERSPECTIVE I&I project - Government of Canada through Genome Canada |
| Fonds de Recherche Quebec Sante (FRQS) |
| Victorian Government's Operational Infrastructure Support (OIS) program |
| Munz Chair of Cardiovascular Prediction and Prevention |
| Canada Research Chair in Law and Medicine |
| CHU de Quebec Foundation |
| FRQS Merite Clinical Research Scholarship |
| Wellcome International Intermediate fellowship at the MRC/UVRI |
| LSHTM |
| National Institute for Health Research (Cambridge Biomedical Research Centre at the Cambridge University Hospitals NHS Foundation Trust) |
| PERSPECTIVE IAMP;I project - Government of Canada through Genome Canada |
| Agradecimiento |
|---|
| We are grateful to the International Common Disease Alliance (ICDA). In particular, we acknowledge the leadership of E. Lander, C. Lindgren, M. Daly, and R. Liao, the ICDA Ethics & Policy Working Group and its co-chairs C. Hutter and M. Zawati, and the administrative support of A. Trankiem. We are also grateful to T. Gjorgjieva for research assistance. Funding: C.J.W. is supported by NIH grants HL135824, HL109946, and HL127564. A.R.M. is supported by NIH grant R00 MH117229. Y.O. is supported by JSPS KAKENHI (19H01021 and 20K21834) and AMED (JP21km0405211, JP21ek0109413, JP21gm4010006, JP21km0405217, JP21ek0410075), JST Moonshot R&D (JPMJMS2021). S.R. is supported by the Academy of Finland Center of Excellence in Complex Disease Genetics (grant numbers 312062 and 336820) and Horizon 2020 Research and Innovation Programme (grant number 101016775 ‘INTERVENE’). B.M.K. and P.G.M. are supported by the PERSPECTIVE I&I project, which is funded by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the Ministère de l’Économie et de l’Innovation du Québec through Genome Québec, the Quebec Breast Cancer Foundation, the CHU de Quebec Foundation and the Ontario Research Fund. B.M.K. is supported by the Canada Research Chair in Law and Medicine. M.N.M. is supported by Open Philanthropy (010623-00001), the Russell Sage Foundation and the JPB Foundation (1903-13498), and National Institute on Aging (R01AG042568-04 and R24AG065184). The Richards research group is supported by the Canadian Institutes of Health Research (CIHR: 365825; 409511, 100558, 169303), the McGill Interdisciplinary Initiative in Infection and Immunity (MI4), the Lady Davis Institute of the Jewish General Hospital, the Jewish General Hospital Foundation, the Canadian Foundation for Innovation, the NIH Foundation, Cancer Research UK, Genome Québec, the Public Health Agency of Canada, McGill University, Cancer Research UK (grant number C18281/A29019), and the Fonds de Recherche Québec Santé (FRQS). J.B.R. is supported by a FRQS Mérite Clinical Research Scholarship. Support from Calcul Québec and Compute Canada is acknowledged. TwinsUK is funded by the Welcome Trust, Medical Research Council, European Union, the National Institute for Health Research (NIHR)-funded BioResource, Clinical Research Facility and Biomedical Research Centre based at Guy’s and St Thomas’ NHS Foundation Trust in partnership with King’s College London. These funding agencies had no role in the design, implementation, or interpretation of this study. M.I. is supported by the Munz Chair of Cardiovascular Prediction and Prevention. This study was supported by the Victorian Government’s Operational Infrastructure Support (OIS) program and by core funding from: the UK Medical Research Council (MR/L003120/1), the British Heart Foundation (RG/13/13/30194; RG/18/13/33946) and the National Institute for Health Research (Cambridge Biomedical Research Centre at the Cambridge University Hospitals NHS Foundation Trust). This work was supported by Health Data Research UK, which is funded by the UK Medical Research Council, Engineering and Physical Sciences 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, and Wellcome. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health and Social Care. The support of the UK Economic and Social Research Council (ESRC) is gratefully acknowledged (ES/T013192/1). S.F. is funded by the Wellcome International Intermediate fellowship (220740/Z/20/Z) at the MRC/UVRI and LSHTM. S.F. is funded by the Wellcome International Intermediate fellowship (220740/Z/20/Z) at the MRC/UVRI and LSHTM. R.A.V. is supported by ANID Chile (FONDEF D10E1007, FONDECYT 1191948, COVID0961). R.A.V. is supported by ANID Chile (FONDEF D10E1007, FONDECYT 1191948, COVID0961). |
| We are grateful to the International Common Disease Alliance (ICDA). In particular, we acknowledge the leadership of E. Lander, C. Lindgren, M. Daly, and R. Liao, the ICDA Ethics & Policy Working Group and its co-chairs C. Hutter and M. Zawati, and the administrative support of A. Trankiem. We are also grateful to T. Gjorgjieva for research assistance. Funding: C.J.W. is supported by NIH grants HL135824, HL109946, and HL127564. A.R.M. is supported by NIH grant R00 MH117229. Y.O. is supported by JSPS KAKENHI (19H01021 and 20K21834) and AMED (JP21km0405211, JP21ek0109413, JP21gm4010006, JP21km0405217, JP21ek0410075), JST Moonshot R&D (JPMJMS2021). S.R. is supported by the Academy of Finland Center of Excellence in Complex Disease Genetics (grant numbers 312062 and 336820) and Horizon 2020 Research and Innovation Programme (grant number 101016775 ‘INTERVENE’). B.M.K. and P.G.M. are supported by the PERSPECTIVE I&I project, which is funded by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the Ministère de l’Économie et de l’Innovation du Québec through Genome Québec, the Quebec Breast Cancer Foundation, the CHU de Quebec Foundation and the Ontario Research Fund. B.M.K. is supported by the Canada Research Chair in Law and Medicine. M.N.M. is supported by Open Philanthropy (010623-00001), the Russell Sage Foundation and the JPB Foundation (1903-13498), and National Institute on Aging (R01AG042568-04 and R24AG065184). The Richards research group is supported by the Canadian Institutes of Health Research (CIHR: 365825; 409511, 100558, 169303), the McGill Interdisciplinary Initiative in Infection and Immunity (MI4), the Lady Davis Institute of the Jewish General Hospital, the Jewish General Hospital Foundation, the Canadian Foundation for Innovation, the NIH Foundation, Cancer Research UK, Genome Québec, the Public Health Agency of Canada, McGill University, Cancer Research UK (grant number C18281/A29019), and the Fonds de Recherche Québec Santé (FRQS). J.B.R. is supported by a FRQS Mérite Clinical Research Scholarship. Support from Calcul Québec and Compute Canada is acknowledged. TwinsUK is funded by the Welcome Trust, Medical Research Council, European Union, the National Institute for Health Research (NIHR)-funded BioResource, Clinical Research Facility and Biomedical Research Centre based at Guy’s and St Thomas’ NHS Foundation Trust in partnership with King’s College London. These funding agencies had no role in the design, implementation, or interpretation of this study. M.I. is supported by the Munz Chair of Cardiovascular Prediction and Prevention. This study was supported by the Victorian Government’s Operational Infrastructure Support (OIS) program and by core funding from: the UK Medical Research Council (MR/L003120/1), the British Heart Foundation (RG/13/13/30194; RG/18/13/33946) and the National Institute for Health Research (Cambridge Biomedical Research Centre at the Cambridge University Hospitals NHS Foundation Trust). This work was supported by Health Data Research UK, which is funded by the UK Medical Research Council, Engineering and Physical Sciences 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, and Wellcome. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health and Social Care. The support of the UK Economic and Social Research Council (ESRC) is gratefully acknowledged (ES/T013192/1). S.F. is funded by the Wellcome International Intermediate fellowship (220740/Z/20/Z) at the MRC/UVRI and LSHTM. S.F. is funded by the Wellcome International Intermediate fellowship (220740/Z/20/Z) at the MRC/UVRI and LSHTM. R.A.V. is supported by ANID Chile (FONDEF D10E1007, FONDECYT 1191948, COVID0961). R.A.V. is supported by ANID Chile (FONDEF D10E1007, FONDECYT 1191948, COVID0961). |
| r The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health and Social Care. The support of the UK Economic and Social Research Council (ESRC) is gratefully acknowledged (ES/T013192/1). S.F. is funded by the Wellcome International Intermediate fellowship (220740/Z/20/Z) at the MRC/UVRI and LSHTM. S.F. is funded by the Wellcome International Intermediate fellowship (220740/Z/20/Z) at the MRC/UVRI and LSHTM. R.A.V. is supported by ANID Chile (FONDEF D10E1007, FONDECYT 1191948, COVID0961). R.A.V. is supported by ANID Chile (FONDEF D10E1007, FONDECYT 1191948, COVID0961). |
| The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health and Social Care. The support of the UK Economic and Social Research Council (ESRC) is gratefully acknowledged (ES/T013192/1). S.F. is funded by the Wellcome International Intermediate fellowship (220740/Z/20/Z) at the MRC/UVRI and LSHTM. S.F. is funded by the Wellcome International Intermediate fellowship (220740/Z/20/Z) at the MRC/UVRI and LSHTM. R.A.V. is supported by ANID Chile (FONDEF D10E1007, FONDECYT 1191948, COVID0961). R.A.V. is supported by ANID Chile (FONDEF D10E1007, FONDECYT 1191948, COVID0961). |
