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

Heidi L. Rehm,Angela Page,Lindsay Smith,Jeremy Adams,Gil Alterovitz, Larry Babb, Maxmillian P. Barkley,Michael Baudis,Michael J.S. Beauvais,Tim Beck,Jacques S. Beckmann,Sergi Beltrán, David L. Bernick,Alexander Bernier,James K. Bonfield,Tiffany Boughtwood,Guillaume Bourque,Sarion R. Bowers,Anthony J. Brookes,Michael Brudno,Matthew Brush,David Bujold,Tony Burdett,Orion J. Buske,Moran N. Cabili,Daniel Cameron,Robert J. Carroll,Esmeralda Casas-Silva,Debyani Chakravarty,Bimal P. Chaudhari, Shu Hui Chen,J. Michael Cherry, Justina Chung,Melissa Cline,Hayley Clissold,Robert Cook-Deegan,Mélanie Courtot,Fiona Cunningham,Miro Cupak,Robert M. Davies, Danielle Denisko,Megan Doerr,Lena Dolman,Edward S. Dove, L. J. Dursi,Stephanie O. M. Dyke, James A. Eddy,Karen Eilbeck,Kyle Ellrott,Susan Fairley,Khalid Fakhro,Helen V. Firth,Michael S. Fitzsimons,Marc Fiume,Paul Flicek, Ian Fore,Mallory Freeberg,Robert R. Freimuth,Lauren A. Fromont, Jonathan Fuerth,Clara Gaff,Weiniu Gan, Elena M. Ghanaim,David Glazer,Robert C. Green,Malachi Griffith,Robert L. Grossman,Tudor Groza,Jaime M. Guidry Auvil,Roderic Guigó,Dipayan Gupta,Melissa A. Haendel,Ada Hamosh,David Hansen,Reece K. Hart,Dean M. Hartley,David Haussler,Rachele Hendricks‐Sturrup,Calvin Wai-Loon Ho, Ashley E. Hobb,Michael M. Hoffman,Oliver Hofmann,Petr Holub, Jacob Shujui Hsu, Jean-Pierre Hubaux, Sarah Hunt,Ammar Husami,Julius O. B. Jacobsen,Saumya S. Jamuar, Elizabeth L. Janes,Francis Jeanson,Aina Jené,Amber Johns,Yann Joly,Steven J.M. Jones, Alexander Kanitz,Kazuto Kato,Thomas Keane, Kristina Kekesi-Lafrance, Jerome Kelleher,Giselle Kerry,Seik‐Soon Khor,Bartha Maria Knoppers,Melissa Konopko,Kenjiro Kosaki,Martin Kuba,Jonathan Lawson,Rasko Leinonen,Stephanie Li, Michael Lin,Mikael Lindén, Xianglin Liu, Isuru Liyanage, Javier Ferreiros López,Anneke Lucassen, Michael Lukowski, Alice L. Mann,John Marshall, Michele Mattioni,Alejandro Metke-Jimenez,Anna Middleton,Richard Milne,Fruzsina Molnár-Gábor,Nicola Mulder,Monica Munoz‐Torres,Rishi Nag, Hidewaki Nakagawa,Jamal Nasir,Arcadi Navarro,Tristan Nelson, Ania Niewielska,Amy Nisselle, Jeffrey Niu,Tommi Nyrönen,Brian D. O’Connor, Sabine Oesterle,Soichi Ogishima,Vivian Ota Wang, Laura A.D. Paglione, Emilio Palumbo,Helen Parkinson,Anthony Philippakis, Angel Pizarro,Andreas Prlić,Jordi Rambla,Augusto Rendon, Renee Rider,Peter N. Robinson, Kurt W. Rodarmer,Laura Lyman Rodriguez, Alan F. Rubin,Manuel Rueda, Gregory A. Rushton,Rosalyn S. Ryan,Gary Saunders,Helen Schuilenburg, Torsten Schwede,Serena Scollen,Alexander Senf,Nathan C. Sheffield, Neerjah Skantharajah,Albert V. Smith,Heidi J. Sofia,Dylan Spalding,Amanda B. Spurdle,Zornitza Stark,Lincoln Stein,Makoto Suematsu, Patrick Tan, J. A. Tedds, Alastair A. Thomson,Adrian Thorogood, Timothy L. Tickle,Katsushi Tokunaga,Juha Törnroos, David Torrents, Sean Upchurch,Alfonso Valencia, Roman Valls Guimerà,Jessica Vamathevan,Susheel Varma,Danya F. Vears, Coby Viner, Craig Voisin,Alex H. Wagner,Susan Wallace,Brian Walsh,Marc S. Williams,Eva C. Winkler, B Wold, Grant M. Wood, J. Patrick Woolley, Chisato Yamasaki,Andrew D Yates, Christina K. Yung,Lyndon Zass, Ksenia Zaytseva, Junjun Zhang,Peter Goodhand,Kathryn North,Ewan Birney

Cell genomics(2021)

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摘要
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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关键词
data sharing,data access,precision medicine,learning health system,genomics,standards,policy,bioethics,data federation
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