GA4GH: International policies and standards for data sharing across genomic research and healthcare
Heidi L. Rehm(Broad Institute), Angela Page(Broad Institute), Lindsay Smith(Ontario Institute for Cancer Research), Jeremy Adams(Ontario Institute for Cancer Research), Gil Alterovitz(Brigham and Women's Hospital), Lawrence Babb(Broad Institute), Maxmillian P. Barkley, Michael Baudis(SIB Swiss Institute of Bioinformatics), Michael J. S. Beauvais(Ontario Genomics), Tim Beck(University of Leicester), J. Beckmann(University of Lausanne), Sergi Beltrán(Universitat Pompeu Fabra), David L. Bernick(Broad Institute), Alexander Bernier(McGill University), James Bonfield(Wellcome Sanger Institute), Tiffany Boughtwood(Murdoch Children's Research Institute), Guillaume Bourque(Ontario Genomics), Sarion R. Bowers(Wellcome Sanger Institute), Anthony J. Brookes(University of Leicester), Michael Brudno(University Health Network), Matthew Brush(Oregon Health & Science University), David Bujold(Broad Institute), Tony Burdett(European Bioinformatics Institute), Orion J. Buske, Moran N. Cabili(Broad Institute), Daniel Cameron(The University of Melbourne), Robert J. Carroll(Vanderbilt University Medical Center), Esmeralda Casas-Silva(Kelly Services (United States)), Debyani Chakravarty(Memorial Sloan Kettering Cancer Center), Bimal P. Chaudhari(Nationwide Children's Hospital), Shu Hui Chen(National Institutes of Health), J. Michael Cherry(Stanford University), Justina Chung(Ontario Institute for Cancer Research), Melissa Cline(University of California, Santa Cruz), Hayley Clissold(Wellcome Sanger Institute), Robert Cook‐Deegan(Arizona State University), Mélanie Courtot(European Bioinformatics Institute), Fiona Cunningham(European Bioinformatics Institute), Miro Cupak, Robert M. Davies(Wellcome Sanger Institute), Danielle Denisko(University of Toronto), Megan Doerr(Sage Bionetworks), Lena Dolman(University of Toronto), Edward S. Dove(University of Edinburgh), Lewis Jonathan Dursi(University Health Network), Stephanie O. M. Dyke(McGill University), James A. Eddy(Sage Bionetworks), Karen Eilbeck(University of Utah), Kyle Ellrott(Oregon Health & Science University), Susan Fairley(European Bioinformatics Institute), Khalid A. Fakhro(Weill Cornell Medical College in Qatar), Helen V. Firth(Wellcome Sanger Institute), Michael Fitzsimons(University of Illinois Chicago), Marc Fiume, Paul Flicek(European Bioinformatics Institute), Ian Fore(National Institutes of Health), Mallory Freeberg(European Bioinformatics Institute), Robert R. Freimuth(Mayo Clinic in Arizona), Lauren A. Fromont(Centre for Genomic Regulation), Jonathan Fuerth(University of Leicester), Clara Gaff(The University of Melbourne), Weiniu Gan(National Institutes of Health), Elena M. Ghanaim(National Institutes of Health), David Glazer(Broad Institute), Robert C. Green(Brigham and Women's Hospital), Malachi Griffith(Washington University in St. Louis), Obi L. Griffith(Washington University in St. Louis), Robert L. Grossman(University of Illinois Chicago), Tudor Groza, Jaime M. Guidry Auvil(National Institutes of Health), Roderic Guigó(Universitat Pompeu Fabra), Dipayan Gupta(European Bioinformatics Institute), Melissa Haendel(University of Colorado Anschutz Medical Campus), Ada Hamosh(Ontario Institute for Cancer Research), David Hansen(Commonwealth Scientific and Industrial Research Organisation), Reece K. Hart(Broad Institute), Dean M. Hartley(Autism Speaks), David Haussler(Broad Institute), Rachele Hendricks‐Sturrup(Center for Neuro-Oncology), Calvin Wai-Loon Ho(University of Leicester), Ashley E. Hobb, Michael M. Hoffman(University Health Network), Oliver Hofmann(The University of Melbourne), Petr Holub(Masaryk University), Jacob Shujui Hsu(National Taiwan University), Jean‐Pierre Hubaux(École Polytechnique Fédérale de Lausanne), Sarah Hunt(European Bioinformatics Institute), Ammar Husami(Cincinnati Children's Hospital Medical Center), Julius O.B. Jacobsen(Queen Mary University of London), Saumya S. Jamuar(SingHealth), Elizabeth Janes(University of Waterloo), Francis Jeanson, Aina Jené(Centre for Genomic Regulation), Amber L. Johns(Garvan Institute of Medical Research), Yann Joly(McGill University), Steven J.M. Jones(Canada's Michael Smith Genome Sciences Centre), Alexander Kanitz(SIB Swiss Institute of Bioinformatics), Yoshihiro Kato(The University of Osaka), Thomas Keane(European Bioinformatics Institute), Kristina Kekesi-Lafrance(Ontario Genomics), Jerome Kelleher(University of Oxford), Giselle Kerry(European Bioinformatics Institute), Seik‐Soon Khor(National Center for Global Health and Medicine), Bartha Maria Knoppers(McGill University), Melissa Konopko, Kenjiro Kosaki(Keio University), Martin Kuba(Masaryk University), Jonathan Lawson(Broad Institute), Rasko Leinonen(European Bioinformatics Institute), Stephanie Li(Broad Institute), Michael Lin(Ontario Institute for Cancer Research), Mikael Lindén(CSC - IT Center for Science (Finland)), Xianglin Liu(University of Waterloo), Isuru Liyanage(European Bioinformatics Institute), Javier Ferreiros(Genomics England), Anneke Lucassen(University of Southampton), Michael Lukowski(University Health Network), Alice Mann(Ontario Genomics), John Marshall(University of Glasgow), Michele Mattioni(Seven Bridges Genomics (United States)), Alejandro Metke‐Jimenez(Commonwealth Scientific and Industrial Research Organisation), Anna Middleton(University of Cambridge), Richard Milne(University of Cambridge), Fruzsina Molnár‐Gábor(Heidelberg Academy of Sciences and Humanities), Nicola Mulder, Mónica Muñoz-Torres(University of Colorado Anschutz Medical Campus), Rishi Nag(European Bioinformatics Institute), Hidewaki Nakagawa(Japan Agency for Medical Research and Development), Jamal Nasir(University of Northampton), Arcadi Navarro(Institució Catalana de Recerca i Estudis Avançats), Tristan Nelson, Ania Niewielska(European Bioinformatics Institute), Amy Nisselle(The University of Melbourne), Jeffrey Niu(University Health Network), Tommi Nyrönen(CSC - IT Center for Science (Finland)), Brian D. O’Connor, Sabine Oesterle(SIB Swiss Institute of Bioinformatics), Soichi Ogishima(Tohoku University), Vivian Ota Wang(National Institutes of Health), Laura A.D. Paglione(Colgate-Palmolive (United States)), Emilio Palumbo(Universitat Pompeu Fabra), Helen Parkinson(European Bioinformatics Institute), Anthony Philippakis(Broad Institute), Angel Pizarro(Amazon (United States)), Andreas Prlić(Invitae (United States)), Jordi Rambla(Universitat Pompeu Fabra), Augusto Rendon(Genomics England), Renee Rider(National Institutes of Health), Peter N. Robinson(University of Connecticut), Kurt W. Rodarmer(National Institutes of Health), Laura Lyman Rodriguez(Patient-Centered Outcomes Research Institute), Alan F. Rubin(The University of Melbourne), Manuel Rueda(Centre for Genomic Regulation), Gregory A. Rushton(Broad Institute), Rosalyn Ryan, Gary Saunders, Helen Schuilenburg(European Bioinformatics Institute), Torsten Schwede(SIB Swiss Institute of Bioinformatics), Serena Scollen, Alexander Senf(Amgen (United Kingdom)), Nathan C. Sheffield(University of Virginia), Neerjah Skantharajah(Ontario Institute for Cancer Research), Albert V. Smith(Ontario Institute for Cancer Research), Heidi J. Sofia(National Institutes of Health), Dylan Spalding(CSC - IT Center for Science (Finland)), Amanda B. Spurdle(QIMR Berghofer Medical Research Institute), Zornitza Stark(The University of Melbourne), Lincoln Stein(Ontario Institute for Cancer Research), Makoto Suematsu(Keio University), Patrick Tan(University of Leicester), Jonathan Tedds(University of Leicester), Alastair Thomson(National Institutes of Health), Adrian Thorogood(University of Luxembourg), Timothy L. Tickle(Broad Institute), Katsushi Tokunaga(National Center for Global Health and Medicine), Juha Törnroos(CSC - IT Center for Science (Finland)), David Torrents(Broad Institute), Sean Upchurch(California Institute of Technology), Alfonso Valencia(Institució Catalana de Recerca i Estudis Avançats), Roman Valls Guimerà(The University of Melbourne), Jessica Vamathevan(European Bioinformatics Institute), S.D. Varma(European Bioinformatics Institute), Danya F. Vears(The University of Melbourne), Coby Viner(University Health Network), Craig Voisin(Google (Canada)), Alex H. Wagner(Nationwide Children's Hospital), Susan Wallace(University of Leicester), Brian Walsh(Oregon Health & Science University), Marc S. Williams, Eva C. Winkler(Heidelberg University), B Wold(California Institute of Technology), Grant M. Wood(Murdoch Children's Research Institute), Jessica Woolley(University of Oxford), Chisato Yamasaki(The University of Osaka), Andrew Yates(European Bioinformatics Institute), Christina K. Yung(Ontario Institute for Cancer Research), Lyndon Zass, Ksenia Zaytseva(University Health Network), Junjun Zhang(Ontario Institute for Cancer Research), Peter Goodhand(Ontario Institute for Cancer Research), Kathryn N. North(The University of Melbourne), Ewan Birney(European Bioinformatics Institute)
Cited by 292Open Access
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.
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