Amber L. Johns, Ian Fore, Juha Törnroos, Melissa Haendel, Bimal Chaudhari, J. Patrick Woolley, Brian Walsh, Susan Fairley, Jonathan A. Tedds, Jessica Vamathevan, Martin Kuba, Clara L. Gaff, Ksenia Zaytseva, Sabine Oesterle, David Bujold, Sarion R. Bowers, Alexander Kanitz, Jordi Rambla, Anthony J. Brookes, Alice L. Mann, Gregory A. Rushton, Paul Flicek, Seik-Soon Khor, Khalid A. Fakhro, Aina Jene, Miro Cupak, Moran N. Cabili, Emilio Palumbo, Nathan C. Sheffield, Vivian Ota Wang, James K. Bonfield, Julius O.B. Jacobsen, Michael M. Hoffman, Neerjah Skantharajah, Ewan Birney, Rasko Leinonen, Anna Middleton, Anneke M. Lucassen, Ania Niewielska, Angela Page, Jeffrey Niu, Alastair A. Thomson, Elena M. Ghanaim, Albert V. Smith, Megan Doerr, Lena I. Dolman, Arcadi Navarro, Ada Hamosh, Sean Upchurch, Michael Baudis, Jerome Kelleher, Marc Fiume, Mikael Linden, Roderic Guigó, Orion J. Buske, Tristan H. Nelson, Kyle Ellrott, Lauren A. Fromont, Alex H. Wagner, Alexander Senf, Tommi Nyrönen, Michele Mattioni, David Haussler, Alejandro Metke-Jimenez, Francis Jeanson, Mélanie Courtot, David Hansen, Matthew H. Brush, Helen Parkinson, Peter Goodhand, Lindsay Smith, Jonathan Fuerth, Stephanie Li, Tim Beck, Debyani Chakravarty, Kristina Kekesi-Lafrance, Giselle Kerry, James A. Eddy, Torsten Schwede, Jaime M. Guidry Auvil, Xianglin Liu, Soichi Ogishima, Fiona Cunningham, Oliver Hofmann, Dean Hartley, Amy Nisselle, Katsushi Tokunaga, Alfonso Valencia, Hidewaki Nakagawa, Kurt W. Rodarmer, Lawrence J. Babb, Heidi J. Sofia, David Glazer, Angel Pizarro, Ammar Husami, Gil Alterovitz, Serena Scollen, J. Michael Cherry, Helen V. Firth, Zornitza Stark, Monica C. Munoz-Torres, Daniel L Cameron, Robert R. Freimuth, Manuel Rueda, Stephanie O.M. Dyke, Makoto Suematsu, Christina K. Yung, Rosalyn S. Ryan, Chisato Yamasaki, Michael S. Fitzsimons, Amanda B. Spurdle, Renee A. Rider, Karen Eilbeck, Ashley E. Hobb, Roman Valls Guimera, Calvin W. L. Ho, Robert L. Davies, Maxmillian P. Barkley, Malachi Griffith, Rishi Nag, Javier Lopez, Jacob Shujui Hsu, Isuru Udara Liyanage, Petr Holub, Dylan Spalding, Reece K. Hart, Barbara J. Wold, Fruzsina Molnár-Gábor, Sarah E. Hunt, Augusto Rendon, Danielle Denisko, Dipayan Gupta, Obi L. Griffith, Robert J. Carroll, Patrick Tan, Craig Voisin, Saumya Shekhar Jamuar, Mallory A. Freeberg, Michael Brudno, Andreas Prlic, Kenjiro Kosaki, Shu Hui Chen, Edward S. Dove, Tony Burdett, Anthony A. Philippakis, Richard Milne, Bartha Maria Knoppers, Kathryn North, David Torrents, Eva C. Winkler, Marc S. Williams, Melissa A. Konopko, Rachele M. Hendricks-Sturrup, Brian O'Connor, Grant M. Wood, Robert L. Grossman, Timothy L. Tickle, Michael F. Lin, Laura Lyman Rodriguez, Weiniu Gan, Laura A.D. Paglione, Justina Chung, Thomas M. Keane, Susan E. Wallace, Lyndon J. Zass, Heidi L. Rehm, Kazuto Kato, Alexander Bernier, Nicola Mulder, Jamal Nasir, Yann Joly, Junjun Zhang, Adrian Thorogood, Lincoln Stein, Guillaume Bourque, L. Jonathan Dursi, Tudor Groza, Jean-Pierre Hubaux, Coby Viner, Helen Schuilenburg, Sergi Beltran, Michael J.S. Beauvais, Hayley L. Clissold, Elizabeth L. Janes, Jacques S. Beckmann, Michael Lukowski, Melissa S. Cline, John F. Marshall, Alan F. Rubin, Tiffany Boughtwood, Peter N. Robinson, Robert C. Green, Robert Cook-Deegan, Esmeralda Casas-Silva, Jeremy Adams, Steven J.M. Jones, Gary I. Saunders, Danya F. Vears, Jonathan Lawson, Andrew D. Yates, David Bernick, Susheel Varma, Middleton, Anna [0000-0003-3103-8098], Milne, Richard [0000-0002-8770-2384], Apollo - University of Cambridge Repository, Abigail Wexner Research Institute, Academy of Finland, Medical Research Future Fund, BioBank Japan, Canada Foundation for Innovation, Canadian Institutes of Health Research, European Commission, German Research Foundation, Genome Canada, Google, Howard Hughes Medical Institute, Instituto de Salud Carlos III, Japan Agency for Medical Research and Development, Mayo Clinic, Fundación 'la Caixa', Ministère de l'Économie et de l'Innovation (Québec), Monarch Initiative, National Human Genome Research Institute (US), National University of Singapore, Agency for Science, Technology and Research A*STAR (Singapore), National Health and Medical Research Council (Australia), National Institutes of Health (US), National Institute of General Medical Sciences (US), Swiss Institute of Bioinformatics, State Secretariat for Education, Research and Innovation (Switzerland), Terry Fox Research Institute, Canada Research Chairs, European Molecular Biology Laboratory, Ministry of Research, Innovation and Science (Ontario), Ontario Genomics Institute, Natural Sciences and Engineering Research Council of Canada, Wellcome Trust, and National Taiwan University
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., B.P.C. acknowledges funding from Abigail Wexner Research Institute at Nationwide Children’s Hospital; T.H. Nyrönen acknowledges funding from Academy of Finland grant #31996; A.M.-J., K.N., T.F.B., O.M.H., and Z.S. acknowledge funding from Australian Medical Research Future Fund; M.S. acknowledges funding from Biobank Japan; D. Bujold and S.J.M.J. acknowledge funding from Canada Foundation for Innovation; L.J.D. acknowledges funding from Canada Foundation for Innovation Cyber Infrastructure grant #34860; D. Bujold and G.B. acknowledge funding from CANARIE; L.J.D. acknowledges funding from CANARIE Research Data Management contract #RDM-090 (CHORD) and #RDM2-053 (ClinDIG); K.K.-L. acknowledges funding from CanSHARE; T.L.T. acknowledges funding from Chan Zuckerberg Initiative; T. Burdett acknowledges funding from Chan Zuckerberg Initiative grant #2017-171671; D. Bujold, G.B., and L.D.S. acknowledge funding from CIHR; L.J.D. acknowledges funding from CIHR grant #404896; M.J.S.B. acknowledges funding from CIHR grant #SBD-163124; M. Courtot and M. Linden acknowledge funding from CINECA project EU Horizon 2020 grant #825775; D. Bujold and G.B. acknowledge funding from Compute Canada; F.M.-G. acknowledges funding from the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – NFDI 1/1 “GHGA – German Human Genome-Phenome Archive; R.M.H.-S. acknowledges funding from Duke-Margolis Center for Health Policy; S.B. and A.J.B. acknowledge funding from EJP-RD EU Horizon 2020 grant #825575; A. Niewielska, A.K., D.S., G.I.S., J.A.T., J.R., M.A.K., M. Baudis, M. Linden, S.B., S.S., T.H. Nyrönen, and T.M.K. acknowledge funding from ELIXIR; A. Niewielska acknowledges funding from EOSC-Life EU Horizon 2020 grant #824087; J.-P.H. acknowledges funding from ETH Domain Strategic Focal Area “Personalized Health and Related Technologies (PHRT)” grant #2017-201; F.M.-G. acknowledges funding from EUCANCan EU Horizon 2020 grant #825835; B.M.K., D. Bujold, G.B., L.D.S., M.J.S.B., N.S., S.E.W., and Y.J. acknowledge funding from Genome Canada; B.M.K., M.J.S.B., S.E.W., and Y.J. acknowledge funding from Genome Quebec; F.M.-G. acknowledges funding from German Human Genome-Phenome Archive; C. Voisin acknowledges funding from Google; A.J.B. acknowledges funding from Health Data Research UK Substantive Site Award; D.H. acknowledges funding from Howard Hughes Medical Institute; S.B. acknowledges funding from Instituto de Salud Carlos III; S.-S.K. and K.T. acknowledge funding from Japan Agency for Medical Research and Development (AMED); S. Ogishima acknowledges funding from Japan Agency for Medical Research and Development (AMED) grant #20kk0205014h0005; C.Y. and K. Kosaki acknowledge funding from Japan Agency for Medical Research and Development (AMED) grant #JP18kk0205012; GEM Japan acknowledges funding from Japan Agency for Medical Research and Development (AMED) grants #19kk0205014h0004, #20kk0205014h0005, #20kk0205013h0005, #20kk0205012h0005, #20km0405401h0003, and #19km0405001h0104; J.R. acknowledges funding from La Caixa Foundation under project #LCF/PR/GN13/50260009; R.R.F. acknowledges funding from Mayo Clinic Center for Individualized Medicine; Y.J. and S.E.W. acknowledge funding from Ministère de l’Économie et de l’Innovation du Québec for the Can-SHARE Connect Project; S.E.W. and S.O.M.D. acknowledge funding from Ministère de l’Économie et de l’Innovation du Québec for the Can-SHARE grant #141210; M.A.H., M.C.M.-T., J.O.J., H.E.P., and P.N.R. acknowledge funding from Monarch Initiative grant #R24OD011883 and Phenomics First NHGRI grant #1RM1HG010860; A.L.M. and E.B. acknowledge funding from MRC grant #MC_PC_19024; P.T. acknowledges funding from National University of Singapore and Agency for Science, Technology and Research; J.M.C. acknowledges funding from NHGRI; A.H.W. acknowledges funding from NHGRI awards K99HG010157, R00HG010157, and R35HG011949; A.M.-J., K.N., D.P.H., O.M.H., T.F.B., and Z.S. acknowledge funding from NHMRC grants #GNT1113531 and #GNT2000001; D.L.C. acknowledges funding from NHMRC Ideas grant #1188098; A.B.S. acknowledges funding from NHMRC Investigator Fellowship grant #APP177524; J.M.C. and L.D.S. acknowledge funding from NIH; A.A.P. acknowledges funding from NIH Anvil; A.V.S. acknowledges funding from NIH contract #HHSN268201800002I (TOPMed Informatics Research Center); S.U. acknowledges funding from NIH ENCODE grant #UM1HG009443; M.C.M.-T. and M.A.H. acknowledge funding from NIH grant #1U13CA221044; R.J.C. acknowledges funding from NIH grants #1U24HG010262 and #1U2COD023196; M.G. acknowledges funding from NIH grant #R00HG007940; J.B.A., S.L., P.G., E.B., H.L.R., and L.S. acknowledge funding from NIH grant #U24HG011025; K.P.E. acknowledges funding from NIH grant #U2C-RM-160010; J.A.E. acknowledges funding from NIH NCATS grant #U24TR002306; M.M. acknowledges funding from NIH NCI contract #HHSN261201400008c and ID/IQ Agreement #17X146 under contract #HHSN2612015000031 and #75N91019D00024; R.M.C.-D. acknowledges funding from NIH NCI grant #R01CA237118; M. Cline acknowledges funding from NIH NCI grant #U01CA242954; K.P.E. acknowledges funding from NIH NCI ITCR grant #1U24CA231877-01; O.L.G. acknowledges funding from NIH NCI ITCR grant #U24CA237719; R.L.G. acknowledges funding from NIH NCI task order #17X147F10 under contract #HHSN261200800001E; A.F.R. acknowledges funding from NIH NHGRI grant #RM1HG010461; N.M. and L.J.Z. acknowledge funding from NIH NHGRI grant #U24HG006941; R.R.F., T.H. Nelson, L.J.B., and H.L.R. acknowledge funding from NIH NHGRI grant #U41HG006834; B.J.W. acknowledges funding from NIH NHGRI grant #UM1HG009443A; M. Cline acknowledges funding from NIH NHLBI BioData Catalyst Fellowship grant #5118777; M.M. acknowledges funding from NIH NHLBI BioData Catalyst Program grant #1OT3HL142478-01; N.C.S. acknowledges funding from NIH NIGMS grant #R35-GM128636; M.C.M.-T., M.A.H., P.N.R., and R.R.F. acknowledge funding from NIH NLM contract #75N97019P00280; E.B. and A.L.M. acknowledge funding from NIHR; R.G. acknowledges funding from Project Ris3CAT VEIS; S.B. acknowledges funding from RD-Connect, Seventh Framework Program grant #305444; J.K. acknowledges funding from Robertson Foundation; S.B. and A.J.B. acknowledge funding from Solve-RD, EU Horizon 2020 grant #779257; T.S. and S. Oesterle acknowledge funding from Swiss Institute of Bioinformatics (SIB) and Swiss Personalized Health Network (SPHN), supported by the Swiss State Secretariat for Education, Research and Innovation SERI; S.J.M.J. acknowledges funding from Terry Fox Research Institute; A.E.H., M.P.B., M. Cupak, M.F., and J.F. acknowledge funding from the Digital Technology Supercluster; D.F.V. acknowledges funding from the Australian Medical Research Future Fund, as part of the Genomics Health Futures Mission grant #76749; M. Baudis acknowledges funding from the BioMedIT Network project of Swiss Institute of Bioinformatics (SIB) and Swiss Personalized Health Network (SPHN); B.M.K. acknowledges funding from the Canada Research Chair in Law and Medicine and CIHR grant #SBD-163124; D.S., G.I.S., M.A.K., S.B., S.S., and T.H. Nyrönen acknowledge funding from the EU Horizon 2020 Beyond 1 Million Genomes (B1MG) Project grant #951724; P.F., A.D.Y., F.C., H.S., I.U.L., D. Gupta, M. Courtot, S.E.H., T. Burdett, T.M.K., and S.F. acknowledge funding from the European Molecular Biology Laboratory; Y.J. and S.E.W. acknowledge funding from the Government of Canada; P.G. acknowledges funding from the Government of Canada through Genome Canada and the Ontario Genomics Institute (OGI-206); J.Z. acknowledges funding from the Government of Ontario; C.K.Y. acknowledges funding from the Government of Ontario, Canada Foundation for Innovation; C. Viner and M.M.H. acknowledge funding from the Natural Sciences and Engineering Research Council of Canada (grant #RGPIN-2015-03948 to M.M.H. and Alexander Graham Bell Canada Graduate Scholarship to C.V.); K.K.-L. acknowledges funding from the Program for Integrated Database of Clinical and Genomic Information; J.K. acknowledges funding from the Robertson Foundation; D.F.V. acknowledges funding from the Victorian State Government through the Operational Infrastructure Support (OIS) Program; A.M.L., R.N., and H.V.F. acknowledge funding from Wellcome (collaborative award); F.C., H.S., P.F., and S.E.H. acknowledge funding from Wellcome Trust grant #108749/Z/15/Z; A.D.Y., H.S., I.U.L., M. Courtot, H.E.P., P.F., and T.M.K. acknowledge funding from Wellcome Trust grant #201535/Z/16/Z; A.M., J.K.B., R.J.M., R.M.D., and T.M.K. acknowledge funding from Wellcome Trust grant #206194; E.B., P.F., P.G., and S.F. acknowledge funding from Wellcome Trust grant #220544/Z/20/Z; A. Hamosh acknowledges funding from NIH NHGRI grant U41HG006627 and U54HG006542; J.S.H. acknowledges funding from National Taiwan University #91F701-45C and #109T098-02; the work of K.W.R. was supported by the Intramural Research Program of the National Library of Medicine, NIH. For the purpose of open access, the author has applied a CC BY public copyright license to any Author Accepted Manuscript version arising from this submission. H.V.F. acknowledges funding from Wellcome Grant 200990/A/16/Z ‘Designing, developing and delivering integrated foundations for genomic medicine'.