GA4GH: International policies and standards for data sharing across genomic research and healthcare

Heidi L Rehm^{1

2

3}, Angela J H Page^{1

4}, Lindsay Smith^{4

5}, Jeremy B Adams^{4

5}, Gil Alterovitz^{6

3}, Lawrence J Babb¹, Maxmillian P Barkley⁷, Michael Baudis^{8

9}, Michael J S Beauvais^{4

10}, Tim Beck¹¹, Jacques S Beckmann¹², Sergi Beltran^{13

14

15}, David Bernick¹, Alexander Bernier¹⁰, James K Bonfield¹⁶, Tiffany F Boughtwood^{17

18}, Guillaume Bourque^{10

19}, Sarion R Bowers¹⁶, Anthony J Brookes¹¹, Michael Brudno^{19

20

21

22

23}, Matthew H Brush²⁴, David Bujold^{10

19

23}, Tony Burdett²⁵, Orion J Buske²⁶, Moran N Cabili¹, Daniel L Cameron^{27

28}, Robert J Carroll²⁹, Esmeralda Casas-Silva³⁰, Debyani Chakravarty³¹, Bimal P Chaudhari^{32

33}, Shu Hui Chen³⁴, J Michael Cherry³⁵, Justina Chung^{4

5}, Melissa Cline³⁶, Hayley L Clissold¹⁶, Robert M Cook-Deegan³⁷, Mélanie Courtot²⁵, Fiona Cunningham²⁵, Miro Cupak⁷, Robert M Davies¹⁶, Danielle Denisko²⁰, Megan J Doerr³⁸, Lena I Dolman²⁰, Edward S Dove³⁹, L Jonathan Dursi^{21

23}, Stephanie O M Dyke¹⁰, James A Eddy³⁸, Karen Eilbeck⁴⁰, Kyle P Ellrott²⁴, Susan Fairley^{4

25}, Khalid A Fakhro^{41

42}, Helen V Firth^{16

43}, Michael S Fitzsimons⁴⁴, Marc Fiume⁷, Paul Flicek²⁵, Ian M Fore⁴⁵, Mallory A Freeberg²⁵, Robert R Freimuth⁴⁶, Lauren A Fromont⁴⁷, Jonathan Fuerth⁷, Clara L Gaff^{17

18

27

28}, Weiniu Gan³⁴, Elena M Ghanaim⁴⁸, David Glazer⁴⁹, Robert C Green^{6

3}, Malachi Griffith⁵⁰, Obi L Griffith⁵⁰, Robert L Grossman⁴⁴, Tudor Groza⁵¹, Jaime M Guidry Auvil⁴⁵, Roderic Guigó^{14

47}, Dipayan Gupta²⁵, Melissa A Haendel⁵², Ada Hamosh⁵³, David P Hansen^{17

54}, Reece K Hart^{1

55

56}, Dean Mitchell Hartley⁵⁷, David Haussler^{36

58}, Rachele M Hendricks-Sturrup⁵⁹, Calvin W L Ho⁶⁰, Ashley E Hobb⁷, Michael M Hoffman^{20

21

22}, Oliver M Hofmann^{20

28}, Petr Holub^{61

62}, Jacob Shujui Hsu⁶³, Jean-Pierre Hubaux⁶⁴, Sarah E Hunt²⁵, Ammar Husami⁶⁵, Julius O Jacobsen⁶⁶, Saumya S Jamuar^{67

68}, Elizabeth L Janes^{4

69}, Francis Jeanson⁷⁰, Aina Jené⁴⁷, Amber L Johns⁷¹, Yann Joly¹⁰, Steven J M Jones⁷², Alexander Kanitz^{9

73}, Kazuto Kato⁷⁴, Thomas M Keane^{25

75}, Kristina Kekesi-Lafrance^{4

10}, Jerome Kelleher⁷⁶, Giselle Kerry²⁵, Seik-Soon Khor^{77

78}, Bartha M Knoppers¹⁰, Melissa A Konopko⁷⁹, Kenjiro Kosaki⁸⁰, Martin Kuba⁶², Jonathan Lawson¹, Rasko Leinonen²⁵, Stephanie Li^{1

4}, Michael F Lin⁸¹, Mikael Linden^{82

83}, Xianglin Liu⁶⁹, Isuru Udara Liyanage²⁵, Javier Lopez⁸⁴, Anneke M Lucassen⁸⁵, Michael Lukowski⁴⁴, Alice L Mann^{4

16}, John Marshall⁸⁶, Michele Mattioni⁸⁷, Alejandro Metke-Jimenez⁵⁴, Anna Middleton^{88

89}, Richard J Milne^{88

89}, Fruzsina Molnár-Gábor⁹⁰, Nicola Mulder⁹¹, Monica C Munoz-Torres⁵², Rishi Nag²⁵, Hidewaki Nakagawa^{92

93}, Jamal Nasir⁹⁴, Arcadi Navarro^{47

95

96

97}, Tristan H Nelson⁹⁸, Ania Niewielska²⁵, Amy Nisselle^{18

28

99}, Jeffrey Niu²¹, Tommi H Nyrönen^{82

83}, Brian D O'Connor¹, Sabine Oesterle⁹, Soichi Ogishima¹⁰⁰, Vivian Ota Wang⁴⁵, Laura A D Paglione^{101

102}, Emilio Palumbo^{14

47}, Helen E Parkinson²⁵, Anthony A Philippakis¹, Angel D Pizarro¹⁰³, Andreas Prlic⁵⁵, Jordi Rambla^{14

47}, Augusto Rendon⁸⁴, Renee A Rider⁴⁸, Peter N Robinson^{104

105}, Kurt W Rodarmer¹⁰⁶, Laura Lyman Rodriguez¹⁰⁷, Alan F Rubin^{27

28}, Manuel Rueda⁴⁷, Gregory A Rushton¹, Rosalyn S Ryan¹⁰⁸, Gary I Saunders⁷⁹, Helen Schuilenburg²⁵, Torsten Schwede^{9

73}, Serena Scollen⁷⁹, Alexander Senf¹⁰⁹, Nathan C Sheffield¹¹⁰, Neerjah Skantharajah^{4

5}, Albert V Smith¹¹¹, Heidi J Sofia⁴⁸, Dylan Spalding^{82

83}, Amanda B Spurdle¹¹², Zornitza Stark^{17

18

28}, Lincoln D Stein^{5

20}, Makoto Suematsu⁸⁰, Patrick Tan^{67

113

114}, Jonathan A Tedds⁷⁹, Alastair A Thomson³⁴, Adrian Thorogood^{10

115}, Timothy L Tickle¹, Katsushi Tokunaga^{78

116}, Juha Törnroos^{82

83}, David Torrents^{96

117}, Sean Upchurch¹¹⁸, Alfonso Valencia^{96

117}, Roman Valls Guimera²⁸, Jessica Vamathevan²⁵, Susheel Varma^{25

119}, Danya F Vears^{18

28

99

120}, Coby Viner^{20

21}, Craig Voisin¹²¹, Alex H Wagner^{32

33}, Susan E Wallace¹¹, Brian P Walsh²⁴, Marc S Williams⁹⁸, Eva C Winkler¹²², Barbara J Wold¹¹⁸, Grant M Wood¹²³, J Patrick Woolley⁷⁶, Chisato Yamasaki⁷⁴, Andrew D Yates²⁵, Christina K Yung^{5

124}, Lyndon J Zass⁹¹, Ksenia Zaytseva^{10

125}, Junjun Zhang⁵, Peter Goodhand^{4

5}, Kathryn North^{18

20

28}, Ewan Birney^{25

126}

Affiliations

¹ Broad Institute of MIT and Harvard, Cambridge, MA, USA.
² Massachusetts General Brigham, Boston, MA, USA.
³ Harvard Medical School, Boston, MA, USA.
⁴ Global Alliance for Genomics and Health, Toronto, ON, Canada.
⁵ Ontario Institute for Cancer Research, Toronto, ON, Canada.
⁶ Brigham and Women's Hospital, Boston, MA, USA.
⁷ DNAstack, Toronto, ON, Canada.
⁸ University of Zurich, Zurich, Switzerland.
⁹ SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.
¹⁰ McGill University, Montreal, QC, Canada.
¹¹ University of Leicester, Leicester, UK.
¹² University of Lausanne, Lausanne, Switzerland.
¹³ CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
¹⁴ Universitat Pompeu Fabra (UPF), Barcelona, Spain.
¹⁵ Universitat de Barcelona, Barcelona, Spain.
¹⁶ Wellcome Sanger Institute, Hinxton, UK.
¹⁷ Australian Genomics, Parkville, VIC, Australia.
¹⁸ Murdoch Children's Research Institute, Parkville, VIC, Australia.
¹⁹ Canadian Center for Computational Genomics, Montreal, QC, Canada.
²⁰ University of Toronto, Toronto, ON, Canada.
²¹ University Health Network, Toronto, ON, Canada.
²² Vector Institute, Toronto, ON, Canada.
²³ Canadian Distributed Infrastructure for Genomics (CanDIG), Toronto, ON, Canada.
²⁴ Oregon Health and Science University, Portland, OR, USA.
²⁵ European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.
²⁶ PhenoTips, Toronto, ON, Canada.
²⁷ Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
²⁸ University of Melbourne, Melbourne, VIC, Australia.
²⁹ Vanderbilt University Medical Center, Nashville, TN, USA.
³⁰ Kelly Government Solutions, Rockville, MD, USA.
³¹ Memorial Sloan Kettering Cancer Center, New York, NY, USA.
³² Nationwide Children's Hospital, Columbus, OH, USA.
³³ The Ohio State University, Columbus, OH, USA.
³⁴ National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
³⁵ Stanford University, Stanford, CA, USA.
³⁶ UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
³⁷ Arizona State University, Washington, DC, USA.
³⁸ Sage Bionetworks, Seattle, WA, USA.
³⁹ University of Edinburgh, Edinburgh, UK.
⁴⁰ University of Utah, Salt Lake City, UT, USA.
⁴¹ Sidra Medicine, Doha, Qatar.
⁴² Weill Cornell Medicine - Qatar, Doha, Qatar.
⁴³ Addenbrooke's Hospital, Cambridge, UK.
⁴⁴ University of Chicago, Chicago, IL, USA.
⁴⁵ National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
⁴⁶ Mayo Clinic, Rochester, MN, USA.
⁴⁷ Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
⁴⁸ National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
⁴⁹ Verily Life Sciences, South San Francisco, CA, USA.
⁵⁰ Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
⁵¹ Pryzm Health, Sydney, QLD, Australia.
⁵² University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
⁵³ Johns Hopkins University, Baltimore, MD, USA.
⁵⁴ The Australian e-Health Research Centre, CSIRO, Herston, QLD, Australia.
⁵⁵ Invitae, San Francisco, CA, USA.
⁵⁶ MyOme, Inc, San Bruno, CA, USA.
⁵⁷ Autism Speaks, Princeton, NJ, USA.
⁵⁸ Howard Hughes Medical Institute, University of California, Santa Cruz, CA, USA.
⁵⁹ Duke-Margolis Center for Health Policy, Washington, DC, USA.
⁶⁰ The University of Hong Kong, Hong Kong, Hong Kong.
⁶¹ BBMRI-ERIC, Graz, Austria.
⁶² Masaryk University, Brno, Czech Republic.
⁶³ National Taiwan University, Taipei City, Taiwan.
⁶⁴ École polytechnique fédérale de Lausanne (EPFL), Lausanne, Switzerland.
⁶⁵ Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
⁶⁶ Queen Mary University of London, London, UK.
⁶⁷ SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Republic of Singapore.
⁶⁸ SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Republic of Singapore.
⁶⁹ University of Waterloo, Waterloo, ON, Canada.
⁷⁰ Datadex Inc., Toronto, ON, Canada.
⁷¹ Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
⁷² Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada.
⁷³ University of Basel, Basel, Switzerland.
⁷⁴ Osaka University, Suita, Japan.
⁷⁵ University of Nottingham, Nottingham, UK.
⁷⁶ University of Oxford, Oxford, UK.
⁷⁷ National Center for Global Health and Medicine Hospital, Tokyo, Japan.
⁷⁸ University of Tokyo, Tokyo, Japan.
⁷⁹ ELIXIR Hub, Hinxton, UK.
⁸⁰ Keio University School of Medicine, Tokyo, Japan.
⁸¹ mlin.net LLC, San Jose, CA, USA.
⁸² CSC-IT Center for Science, Espoo, Finland.
⁸³ ELIXIR Finland, Espoo, Finland.
⁸⁴ Genomics England, London, UK.
⁸⁵ Faculty of Medicine, University Southampton, Southampton, UK.
⁸⁶ University of Glasgow, Glasgow, UK.
⁸⁷ Seven Bridges, Boston, MA, USA.
⁸⁸ Wellcome Connecting Science, Hinxton, UK.
⁸⁹ University of Cambridge, Cambridge, UK.
⁹⁰ Heidelberg Academy of Sciences and Humanities, Heidelberg, Germany.
⁹¹ H3ABioNet, Computational Biology Division, IDM, Faculty of Health Sciences, Cape Town, South Africa.
⁹² Japan Agency for Medical Research & Development (AMED), Tokyo, Japan.
⁹³ RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
⁹⁴ University of Northampton, Northampton, UK.
⁹⁵ Institute of Evolutionary Biology (UPF-CSIC), Universitat Pompeu Fabra (UPF), Barcelona, Spain.
⁹⁶ Institució Catalana de Recerca i Estudis Avançats, Barcelona, Spain.
⁹⁷ Barcelonaβeta Brain Research Center (BBRC), Pasqual Maragall Foundation, Barcelona, Spain.
⁹⁸ Genomic Medicine Institute, Geisinger, Danville, PA, USA.
⁹⁹ Human Genetics Society of Australasia Education, Ethics & Social Issues Committee, Alexandria, NSW, Australia.
¹⁰⁰ Tohoku University, Sendai, Japan.
¹⁰¹ Spherical Cow Group, New York, NY, USA.
¹⁰² Laura Paglione LLC, New York, NY, USA.
¹⁰³ Amazon Web Services, Inc., Seattle, WA, USA.
¹⁰⁴ The Jackson Laboratory, Farmington, CT, USA.
¹⁰⁵ University of Connecticut, Farmington, CT, USA.
¹⁰⁶ National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
¹⁰⁷ Patient-Centered Outcomes Research Institute (PCORI), Washington, DC, USA.
¹⁰⁸ Bicgen Foundation Inc, Arlington Heights, IL, USA.
¹⁰⁹ Congenica Ltd., Cambridge, UK.
¹¹⁰ University of Virginia, Charlottesville, VA, USA.
¹¹¹ University of Michigan, Ann Arbor, MI, USA.
¹¹² QIMR Berghofer Medical Research Institute, Herston, QLD, Australia.
¹¹³ Precision Health Research Singapore, Singapore, Republic of Singapore.
¹¹⁴ Genome Institute of Singapore, Singapore, Republic of Singapore.
¹¹⁵ University of Luxembourg, Esch-sur-Alzette, Luxembourg.
¹¹⁶ National Center for Global Health and Medicine, Tokyo, Japan.
¹¹⁷ Barcelona Supercomputing Center, Barcelona, Spain.
¹¹⁸ California Institute of Technology, Pasadena, CA, USA.
¹¹⁹ Health Data Research UK, London, UK.
¹²⁰ Melbourne Law School, University of Melbourne, Parkville, VIC, Australia.
¹²¹ Google LLC, Kitchener, ON, Canada.
¹²² Section of Translational Medical Ethics, University Hospital Heidelberg, Heidelberg, Germany.
¹²³ Salt Lake City, UT, USA.
¹²⁴ Indoc Research, Toronto, ON, Canada.
¹²⁵ Canadian Centre for Computational Genomics, Montreal, QC, Canada.
¹²⁶ European Molecular Biology Laboratory, Heidelberg, Germany.

PMID: 35072136
PMCID: PMC8774288
DOI: 10.1016/j.xgen.2021.100029

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Heidi L Rehm et al. Cell Genom. 2021.

. 2021 Nov 10;1(2):100029.

doi: 10.1016/j.xgen.2021.100029.

Authors

Affiliations

¹ Broad Institute of MIT and Harvard, Cambridge, MA, USA.
² Massachusetts General Brigham, Boston, MA, USA.
³ Harvard Medical School, Boston, MA, USA.
⁴ Global Alliance for Genomics and Health, Toronto, ON, Canada.
⁵ Ontario Institute for Cancer Research, Toronto, ON, Canada.
⁶ Brigham and Women's Hospital, Boston, MA, USA.
⁷ DNAstack, Toronto, ON, Canada.
⁸ University of Zurich, Zurich, Switzerland.
⁹ SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.
¹⁰ McGill University, Montreal, QC, Canada.
¹¹ University of Leicester, Leicester, UK.
¹² University of Lausanne, Lausanne, Switzerland.
¹³ CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
¹⁴ Universitat Pompeu Fabra (UPF), Barcelona, Spain.
¹⁵ Universitat de Barcelona, Barcelona, Spain.
¹⁶ Wellcome Sanger Institute, Hinxton, UK.
¹⁷ Australian Genomics, Parkville, VIC, Australia.
¹⁸ Murdoch Children's Research Institute, Parkville, VIC, Australia.
¹⁹ Canadian Center for Computational Genomics, Montreal, QC, Canada.
²⁰ University of Toronto, Toronto, ON, Canada.
²¹ University Health Network, Toronto, ON, Canada.
²² Vector Institute, Toronto, ON, Canada.
²³ Canadian Distributed Infrastructure for Genomics (CanDIG), Toronto, ON, Canada.
²⁴ Oregon Health and Science University, Portland, OR, USA.
²⁵ European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.
²⁶ PhenoTips, Toronto, ON, Canada.
²⁷ Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
²⁸ University of Melbourne, Melbourne, VIC, Australia.
²⁹ Vanderbilt University Medical Center, Nashville, TN, USA.
³⁰ Kelly Government Solutions, Rockville, MD, USA.
³¹ Memorial Sloan Kettering Cancer Center, New York, NY, USA.
³² Nationwide Children's Hospital, Columbus, OH, USA.
³³ The Ohio State University, Columbus, OH, USA.
³⁴ National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
³⁵ Stanford University, Stanford, CA, USA.
³⁶ UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
³⁷ Arizona State University, Washington, DC, USA.
³⁸ Sage Bionetworks, Seattle, WA, USA.
³⁹ University of Edinburgh, Edinburgh, UK.
⁴⁰ University of Utah, Salt Lake City, UT, USA.
⁴¹ Sidra Medicine, Doha, Qatar.
⁴² Weill Cornell Medicine - Qatar, Doha, Qatar.
⁴³ Addenbrooke's Hospital, Cambridge, UK.
⁴⁴ University of Chicago, Chicago, IL, USA.
⁴⁵ National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
⁴⁶ Mayo Clinic, Rochester, MN, USA.
⁴⁷ Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
⁴⁸ National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
⁴⁹ Verily Life Sciences, South San Francisco, CA, USA.
⁵⁰ Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
⁵¹ Pryzm Health, Sydney, QLD, Australia.
⁵² University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
⁵³ Johns Hopkins University, Baltimore, MD, USA.
⁵⁴ The Australian e-Health Research Centre, CSIRO, Herston, QLD, Australia.
⁵⁵ Invitae, San Francisco, CA, USA.
⁵⁶ MyOme, Inc, San Bruno, CA, USA.
⁵⁷ Autism Speaks, Princeton, NJ, USA.
⁵⁸ Howard Hughes Medical Institute, University of California, Santa Cruz, CA, USA.
⁵⁹ Duke-Margolis Center for Health Policy, Washington, DC, USA.
⁶⁰ The University of Hong Kong, Hong Kong, Hong Kong.
⁶¹ BBMRI-ERIC, Graz, Austria.
⁶² Masaryk University, Brno, Czech Republic.
⁶³ National Taiwan University, Taipei City, Taiwan.
⁶⁴ École polytechnique fédérale de Lausanne (EPFL), Lausanne, Switzerland.
⁶⁵ Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
⁶⁶ Queen Mary University of London, London, UK.
⁶⁷ SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Republic of Singapore.
⁶⁸ SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Republic of Singapore.
⁶⁹ University of Waterloo, Waterloo, ON, Canada.
⁷⁰ Datadex Inc., Toronto, ON, Canada.
⁷¹ Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
⁷² Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada.
⁷³ University of Basel, Basel, Switzerland.
⁷⁴ Osaka University, Suita, Japan.
⁷⁵ University of Nottingham, Nottingham, UK.
⁷⁶ University of Oxford, Oxford, UK.
⁷⁷ National Center for Global Health and Medicine Hospital, Tokyo, Japan.
⁷⁸ University of Tokyo, Tokyo, Japan.
⁷⁹ ELIXIR Hub, Hinxton, UK.
⁸⁰ Keio University School of Medicine, Tokyo, Japan.
⁸¹ mlin.net LLC, San Jose, CA, USA.
⁸² CSC-IT Center for Science, Espoo, Finland.
⁸³ ELIXIR Finland, Espoo, Finland.
⁸⁴ Genomics England, London, UK.
⁸⁵ Faculty of Medicine, University Southampton, Southampton, UK.
⁸⁶ University of Glasgow, Glasgow, UK.
⁸⁷ Seven Bridges, Boston, MA, USA.
⁸⁸ Wellcome Connecting Science, Hinxton, UK.
⁸⁹ University of Cambridge, Cambridge, UK.
⁹⁰ Heidelberg Academy of Sciences and Humanities, Heidelberg, Germany.
⁹¹ H3ABioNet, Computational Biology Division, IDM, Faculty of Health Sciences, Cape Town, South Africa.
⁹² Japan Agency for Medical Research & Development (AMED), Tokyo, Japan.
⁹³ RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
⁹⁴ University of Northampton, Northampton, UK.
⁹⁵ Institute of Evolutionary Biology (UPF-CSIC), Universitat Pompeu Fabra (UPF), Barcelona, Spain.
⁹⁶ Institució Catalana de Recerca i Estudis Avançats, Barcelona, Spain.
⁹⁷ Barcelonaβeta Brain Research Center (BBRC), Pasqual Maragall Foundation, Barcelona, Spain.
⁹⁸ Genomic Medicine Institute, Geisinger, Danville, PA, USA.
⁹⁹ Human Genetics Society of Australasia Education, Ethics & Social Issues Committee, Alexandria, NSW, Australia.
¹⁰⁰ Tohoku University, Sendai, Japan.
¹⁰¹ Spherical Cow Group, New York, NY, USA.
¹⁰² Laura Paglione LLC, New York, NY, USA.
¹⁰³ Amazon Web Services, Inc., Seattle, WA, USA.
¹⁰⁴ The Jackson Laboratory, Farmington, CT, USA.
¹⁰⁵ University of Connecticut, Farmington, CT, USA.
¹⁰⁶ National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
¹⁰⁷ Patient-Centered Outcomes Research Institute (PCORI), Washington, DC, USA.
¹⁰⁸ Bicgen Foundation Inc, Arlington Heights, IL, USA.
¹⁰⁹ Congenica Ltd., Cambridge, UK.
¹¹⁰ University of Virginia, Charlottesville, VA, USA.
¹¹¹ University of Michigan, Ann Arbor, MI, USA.
¹¹² QIMR Berghofer Medical Research Institute, Herston, QLD, Australia.
¹¹³ Precision Health Research Singapore, Singapore, Republic of Singapore.
¹¹⁴ Genome Institute of Singapore, Singapore, Republic of Singapore.
¹¹⁵ University of Luxembourg, Esch-sur-Alzette, Luxembourg.
¹¹⁶ National Center for Global Health and Medicine, Tokyo, Japan.
¹¹⁷ Barcelona Supercomputing Center, Barcelona, Spain.
¹¹⁸ California Institute of Technology, Pasadena, CA, USA.
¹¹⁹ Health Data Research UK, London, UK.
¹²⁰ Melbourne Law School, University of Melbourne, Parkville, VIC, Australia.
¹²¹ Google LLC, Kitchener, ON, Canada.
¹²² Section of Translational Medical Ethics, University Hospital Heidelberg, Heidelberg, Germany.
¹²³ Salt Lake City, UT, USA.
¹²⁴ Indoc Research, Toronto, ON, Canada.
¹²⁵ Canadian Centre for Computational Genomics, Montreal, QC, Canada.
¹²⁶ European Molecular Biology Laboratory, Heidelberg, Germany.

PMID: 35072136
PMCID: PMC8774288
DOI: 10.1016/j.xgen.2021.100029

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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Conflict of interest statement

H.L.R., K.N., N.M., and E.B. are members of the Cell Genomics Advisory Board. E.B. is a paid consultant to Oxford Nanopore Technologies and Dovetail Inc, both in the field of genomics. A.A.P. is a Venture Partner at GV. and has received funding from Alphabet, Microsoft, Intel, IBM, and Bayer; he is on the Novartis - Data 42 External Advisory Board and the Additional Ventures SAB. D. Glazer is on the NIH Advisory Committee to the Director, the ICDA Organizing Committee, and the Vanderbilt Biomedical Science Advisory Board. F.M.-G. is co-editor of the GA4GH GDPR and International Health Data Forum. J.O.J. is a consultant to Congenica Ltd. J.-P.H. is a co-founder of start-up Tune Insight (http://www.tuneinsight.com); he was on the Scientific Advisory Board of Sophia Genetics from 2012 to 2018. M.F.L. is on the boards of DNAnexus, Amazon Web Services, and Google. M.N.C. is an employee of Foundation Medicine and equity holder of Roche. P.F. is a member of the Scientific Advisory Boards of Fabric Genomics, Inc. and Eagle Genomics, Ltd. R.C.G. has advised the following companies: AIA, Genomic Life, Grail, Humanity, Kneed Media, Plumcare, UnitedHealth, Verily, and VibrentHealth; and is co-founder of Genome Medical, Inc. R.M.C.-D. is on the Genome Quebec Scientific Advisory Committee, theBRCA Exchange Steering Committee, and the Human Pangenome Reference Consortium ELSI Committee. R.M.H.-S. is the Chief Data Governance Officer at the National Alliance Against Disparities in Patient Health. S.S.J. is a co-founder of Global Gene Corporation Pte Ltd. A. Hamosh serves as the PI of OMIM and is on the Steering Committee of the Matchmaker Exchange. A.V. is a member of the Data Science Committee at the Novo Nordisk Foundation, a panel member of the European Research Council Synergy Grants Committee, member of the Scientific Advisory Board of the Barcelona Institute for Global Health (ISGlobal), member of the Scientific Advisory Board of the Institut Universitaire du Cancer de Toulouse, Vice-Chair of the Scientific Committee of IMI – Innovative Medicines Initiative, member of the Scientific Committee of IMI – Innovative Medicines Initiative, member of the Scientific Committee of the Programmes Transversaux set up by the Institut National de la Santé et de la Recherche Médicale (INSERM), member of the Scientific Advisory Board of the Institute of Genetics and Development of Rennes, member of the Turing Centre for Living Systems (CENTURI) Scientific Advisory Board, member of the Institute Curie bioinformatics program Scientific Advisory Board (chair), member of SAB of the Biology Department UPF Barcelona, member of SAB of the Barcelona Biomedicine Research Institute (IRB Barcelona), member of the Intepro database SAB, and member of the Swiss Institute of Bioinformatics SAB. R.K.H. is an employee of MyOme, Inc, former employee of Invitae, and received funding from the Broad Institute.

Figures

**Figure 1**
Matrix structure of the Global Alliance for Genomics and Health GA4GH is a community of diverse stakeholders from Driver Projects and other institutions working together in the context of Work Streams. Each GA4GH Driver Project is expected to dedicate two full-time equivalents across at least two GA4GH Work Streams. As foundational groups that review all GA4GH deliverables, the Regulatory and Ethics and Data Security Work Streams must have representation from every Driver Project. In addition to Driver Projects, any member of the community—regardless of domain, sector, nation, or affiliation—is invited to participate in any GA4GH Work Stream. Supplemental information includes details on how each of the 24 GA4GH Driver Projects intersects with the six technical Work Streams.

See this image and copyright information in PMC

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GA4GH: International policies and standards for data sharing across genomic research and healthcare

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GA4GH: International policies and standards for data sharing across genomic research and healthcare

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