학술논문

GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Document Type
Academic Journal
Author
Rehm HL; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Massachusetts General Brigham, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Page AJH; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Smith L; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Ontario Institute for Cancer Research, Toronto, ON, Canada.; Adams JB; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Ontario Institute for Cancer Research, Toronto, ON, Canada.; Alterovitz G; Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Babb LJ; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Barkley MP; DNAstack, Toronto, ON, Canada.; Baudis M; University of Zurich, Zurich, Switzerland.; SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.; Beauvais MJS; Global Alliance for Genomics and Health, Toronto, ON, Canada.; McGill University, Montreal, QC, Canada.; Beck T; University of Leicester, Leicester, UK.; Beckmann JS; University of Lausanne, Lausanne, Switzerland.; Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Bernick D; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Bernier A; McGill University, Montreal, QC, Canada.; Bonfield JK; Wellcome Sanger Institute, Hinxton, UK.; Boughtwood TF; Australian Genomics, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Bourque G; McGill University, Montreal, QC, Canada.; Canadian Center for Computational Genomics, Montreal, QC, Canada.; Bowers SR; Wellcome Sanger Institute, Hinxton, UK.; Brookes AJ; University of Leicester, Leicester, UK.; Brudno M; Canadian Center for Computational Genomics, Montreal, QC, Canada.; University of Toronto, Toronto, ON, Canada.; University Health Network, Toronto, ON, Canada.; Vector Institute, Toronto, ON, Canada.; Canadian Distributed Infrastructure for Genomics (CanDIG), Toronto, ON, Canada.; Brush MH; Oregon Health and Science University, Portland, OR, USA.; Bujold D; McGill University, Montreal, QC, Canada.; Canadian Center for Computational Genomics, Montreal, QC, Canada.; Canadian Distributed Infrastructure for Genomics (CanDIG), Toronto, ON, Canada.; Burdett T; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Buske OJ; PhenoTips, Toronto, ON, Canada.; Cabili MN; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cameron DL; Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Carroll RJ; Vanderbilt University Medical Center, Nashville, TN, USA.; Casas-Silva E; Kelly Government Solutions, Rockville, MD, USA.; Chakravarty D; Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Chaudhari BP; Nationwide Children's Hospital, Columbus, OH, USA.; The Ohio State University, Columbus, OH, USA.; Chen SH; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.; Cherry JM; Stanford University, Stanford, CA, USA.; Chung J; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Ontario Institute for Cancer Research, Toronto, ON, Canada.; Cline M; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.; Clissold HL; Wellcome Sanger Institute, Hinxton, UK.; Cook-Deegan RM; Arizona State University, Washington, DC, USA.; Courtot M; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Cunningham F; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Cupak M; DNAstack, Toronto, ON, Canada.; Davies RM; Wellcome Sanger Institute, Hinxton, UK.; Denisko D; University of Toronto, Toronto, ON, Canada.; Doerr MJ; Sage Bionetworks, Seattle, WA, USA.; Dolman LI; University of Toronto, Toronto, ON, Canada.; Dove ES; University of Edinburgh, Edinburgh, UK.; Dursi LJ; University Health Network, Toronto, ON, Canada.; Canadian Distributed Infrastructure for Genomics (CanDIG), Toronto, ON, Canada.; Dyke SOM; McGill University, Montreal, QC, Canada.; Eddy JA; Sage Bionetworks, Seattle, WA, USA.; Eilbeck K; University of Utah, Salt Lake City, UT, USA.; Ellrott KP; Oregon Health and Science University, Portland, OR, USA.; Fairley S; Global Alliance for Genomics and Health, Toronto, ON, Canada.; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Fakhro KA; Sidra Medicine, Doha, Qatar.; Weill Cornell Medicine - Qatar, Doha, Qatar.; Firth HV; Wellcome Sanger Institute, Hinxton, UK.; Addenbrooke's Hospital, Cambridge, UK.; Fitzsimons MS; University of Chicago, Chicago, IL, USA.; Fiume M; DNAstack, Toronto, ON, Canada.; Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Fore IM; National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Freeberg MA; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Freimuth RR; Mayo Clinic, Rochester, MN, USA.; Fromont LA; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Fuerth J; DNAstack, Toronto, ON, Canada.; Gaff CL; Australian Genomics, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Gan W; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.; Ghanaim EM; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Glazer D; Verily Life Sciences, South San Francisco, CA, USA.; Green RC; Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Griffith M; Washington University School of Medicine in St. Louis, St. Louis, MO, USA.; Griffith OL; Washington University School of Medicine in St. Louis, St. Louis, MO, USA.; Grossman RL; University of Chicago, Chicago, IL, USA.; Groza T; Pryzm Health, Sydney, QLD, Australia.; Auvil JMG; National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Guigó R; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Gupta D; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Haendel MA; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Hamosh A; Johns Hopkins University, Baltimore, MD, USA.; Hansen DP; Australian Genomics, Parkville, VIC, Australia.; The Australian e-Health Research Centre, CSIRO, Herston, QLD, Australia.; Hart RK; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Invitae, San Francisco, CA, USA.; MyOme, Inc, San Bruno, CA, USA.; Hartley DM; Autism Speaks, Princeton, NJ, USA.; Haussler D; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.; Howard Hughes Medical Institute, University of California, Santa Cruz, CA, USA.; Hendricks-Sturrup RM; Duke-Margolis Center for Health Policy, Washington, DC, USA.; Ho CWL; The University of Hong Kong, Hong Kong, Hong Kong.; Hobb AE; DNAstack, Toronto, ON, Canada.; Hoffman MM; University of Toronto, Toronto, ON, Canada.; University Health Network, Toronto, ON, Canada.; Vector Institute, Toronto, ON, Canada.; Hofmann OM; University of Toronto, Toronto, ON, Canada.; University of Melbourne, Melbourne, VIC, Australia.; Holub P; BBMRI-ERIC, Graz, Austria.; Masaryk University, Brno, Czech Republic.; Hsu JS; National Taiwan University, Taipei City, Taiwan.; Hubaux JP; École polytechnique fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Hunt SE; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Husami A; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Jacobsen JO; Queen Mary University of London, London, UK.; Jamuar SS; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Republic of Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Republic of Singapore.; Janes EL; Global Alliance for Genomics and Health, Toronto, ON, Canada.; University of Waterloo, Waterloo, ON, Canada.; Jeanson F; Datadex Inc., Toronto, ON, Canada.; Jené A; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Johns AL; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Joly Y; McGill University, Montreal, QC, Canada.; Jones SJM; Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada.; Kanitz A; SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.; University of Basel, Basel, Switzerland.; Kato K; Osaka University, Suita, Japan.; Keane TM; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; University of Nottingham, Nottingham, UK.; Kekesi-Lafrance K; Global Alliance for Genomics and Health, Toronto, ON, Canada.; McGill University, Montreal, QC, Canada.; Kelleher J; University of Oxford, Oxford, UK.; Kerry G; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Khor SS; National Center for Global Health and Medicine Hospital, Tokyo, Japan.; University of Tokyo, Tokyo, Japan.; Knoppers BM; McGill University, Montreal, QC, Canada.; Konopko MA; ELIXIR Hub, Hinxton, UK.; Kosaki K; Keio University School of Medicine, Tokyo, Japan.; Kuba M; Masaryk University, Brno, Czech Republic.; Lawson J; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Leinonen R; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Li S; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Lin MF; mlin.net LLC, San Jose, CA, USA.; Linden M; CSC-IT Center for Science, Espoo, Finland.; ELIXIR Finland, Espoo, Finland.; Liu X; University of Waterloo, Waterloo, ON, Canada.; Udara Liyanage I; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Lopez J; Genomics England, London, UK.; Lucassen AM; Faculty of Medicine, University Southampton, Southampton, UK.; Lukowski M; University of Chicago, Chicago, IL, USA.; Mann AL; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Wellcome Sanger Institute, Hinxton, UK.; Marshall J; University of Glasgow, Glasgow, UK.; Mattioni M; Seven Bridges, Boston, MA, USA.; Metke-Jimenez A; The Australian e-Health Research Centre, CSIRO, Herston, QLD, Australia.; Middleton A; Wellcome Connecting Science, Hinxton, UK.; University of Cambridge, Cambridge, UK.; Milne RJ; Wellcome Connecting Science, Hinxton, UK.; University of Cambridge, Cambridge, UK.; Molnár-Gábor F; Heidelberg Academy of Sciences and Humanities, Heidelberg, Germany.; Mulder N; H3ABioNet, Computational Biology Division, IDM, Faculty of Health Sciences, Cape Town, South Africa.; Munoz-Torres MC; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Nag R; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Nakagawa H; Japan Agency for Medical Research & Development (AMED), Tokyo, Japan.; RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.; Nasir J; University of Northampton, Northampton, UK.; Navarro A; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Institute of Evolutionary Biology (UPF-CSIC), Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Institució Catalana de Recerca i Estudis Avançats, Barcelona, Spain.; Barcelonaβeta Brain Research Center (BBRC), Pasqual Maragall Foundation, Barcelona, Spain.; Nelson TH; Genomic Medicine Institute, Geisinger, Danville, PA, USA.; Niewielska A; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Nisselle A; Murdoch Children's Research Institute, Parkville, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Human Genetics Society of Australasia Education, Ethics & Social Issues Committee, Alexandria, NSW, Australia.; Niu J; University Health Network, Toronto, ON, Canada.; Nyrönen TH; CSC-IT Center for Science, Espoo, Finland.; ELIXIR Finland, Espoo, Finland.; O'Connor BD; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Oesterle S; SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.; Ogishima S; Tohoku University, Sendai, Japan.; Wang VO; National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Paglione LAD; Spherical Cow Group, New York, NY, USA.; Laura Paglione LLC, New York, NY, USA.; Palumbo E; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Parkinson HE; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Philippakis AA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pizarro AD; Amazon Web Services, Inc., Seattle, WA, USA.; Prlic A; Invitae, San Francisco, CA, USA.; Rambla J; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Rendon A; Genomics England, London, UK.; Rider RA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Robinson PN; The Jackson Laboratory, Farmington, CT, USA.; University of Connecticut, Farmington, CT, USA.; Rodarmer KW; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.; Rodriguez LL; Patient-Centered Outcomes Research Institute (PCORI), Washington, DC, USA.; Rubin AF; Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Rueda M; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Rushton GA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ryan RS; Bicgen Foundation Inc, Arlington Heights, IL, USA.; Saunders GI; ELIXIR Hub, Hinxton, UK.; Schuilenburg H; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Schwede T; SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.; University of Basel, Basel, Switzerland.; Scollen S; ELIXIR Hub, Hinxton, UK.; Senf A; Congenica Ltd., Cambridge, UK.; Sheffield NC; University of Virginia, Charlottesville, VA, USA.; Skantharajah N; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Ontario Institute for Cancer Research, Toronto, ON, Canada.; Smith AV; University of Michigan, Ann Arbor, MI, USA.; Sofia HJ; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Spalding D; CSC-IT Center for Science, Espoo, Finland.; ELIXIR Finland, Espoo, Finland.; Spurdle AB; QIMR Berghofer Medical Research Institute, Herston, QLD, Australia.; Stark Z; Australian Genomics, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Parkville, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Stein LD; Ontario Institute for Cancer Research, Toronto, ON, Canada.; University of Toronto, Toronto, ON, Canada.; Suematsu M; Keio University School of Medicine, Tokyo, Japan.; Tan P; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Republic of Singapore.; Precision Health Research Singapore, Singapore, Republic of Singapore.; Genome Institute of Singapore, Singapore, Republic of Singapore.; Tedds JA; ELIXIR Hub, Hinxton, UK.; Thomson AA; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.; Thorogood A; McGill University, Montreal, QC, Canada.; University of Luxembourg, Esch-sur-Alzette, Luxembourg.; Tickle TL; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tokunaga K; University of Tokyo, Tokyo, Japan.; National Center for Global Health and Medicine, Tokyo, Japan.; Törnroos J; CSC-IT Center for Science, Espoo, Finland.; ELIXIR Finland, Espoo, Finland.; Torrents D; Institució Catalana de Recerca i Estudis Avançats, Barcelona, Spain.; Barcelona Supercomputing Center, Barcelona, Spain.; Upchurch S; California Institute of Technology, Pasadena, CA, USA.; Valencia A; Institució Catalana de Recerca i Estudis Avançats, Barcelona, Spain.; Barcelona Supercomputing Center, Barcelona, Spain.; Guimera RV; University of Melbourne, Melbourne, VIC, Australia.; Vamathevan J; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Varma S; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Health Data Research UK, London, UK.; Vears DF; Murdoch Children's Research Institute, Parkville, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Human Genetics Society of Australasia Education, Ethics & Social Issues Committee, Alexandria, NSW, Australia.; Melbourne Law School, University of Melbourne, Parkville, VIC, Australia.; Viner C; University of Toronto, Toronto, ON, Canada.; University Health Network, Toronto, ON, Canada.; Voisin C; Google LLC, Kitchener, ON, Canada.; Wagner AH; Nationwide Children's Hospital, Columbus, OH, USA.; The Ohio State University, Columbus, OH, USA.; Wallace SE; University of Leicester, Leicester, UK.; Walsh BP; Oregon Health and Science University, Portland, OR, USA.; Williams MS; Genomic Medicine Institute, Geisinger, Danville, PA, USA.; Winkler EC; Section of Translational Medical Ethics, University Hospital Heidelberg, Heidelberg, Germany.; Wold BJ; California Institute of Technology, Pasadena, CA, USA.; Wood GM; Salt Lake City, UT, USA.; Woolley JP; University of Oxford, Oxford, UK.; Yamasaki C; Osaka University, Suita, Japan.; Yates AD; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Yung CK; Ontario Institute for Cancer Research, Toronto, ON, Canada.; Indoc Research, Toronto, ON, Canada.; Zass LJ; H3ABioNet, Computational Biology Division, IDM, Faculty of Health Sciences, Cape Town, South Africa.; Zaytseva K; McGill University, Montreal, QC, Canada.; Canadian Centre for Computational Genomics, Montreal, QC, Canada.; Zhang J; Ontario Institute for Cancer Research, Toronto, ON, Canada.; Goodhand P; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Ontario Institute for Cancer Research, Toronto, ON, Canada.; North K; Murdoch Children's Research Institute, Parkville, VIC, Australia.; University of Toronto, Toronto, ON, Canada.; University of Melbourne, Melbourne, VIC, Australia.; Birney E; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; European Molecular Biology Laboratory, Heidelberg, Germany.
Source
Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: Print Cited Medium: Internet ISSN: 2666-979X (Electronic) Linking ISSN: 2666979X NLM ISO Abbreviation: Cell Genom Subsets: PubMed not MEDLINE
Subject
Language
English
Abstract
The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits.