GA4GH: International policies and standards for data sharing across genomic research and healthcare
Heidi L. Rehm, Angela Page, Lindsay Smith, Jeremy Adams, Gil Alterovitz, Lawrence Babb, Maxmillian P. Barkley, Michael Baudis, Michael J. S. Beauvais, Tim Beck, J. Beckmann, Sergi Beltrán, David L. Bernick, Alexander Bernier, James 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, Lewis Jonathan Dursi, Stephanie O. M. Dyke, James A. Eddy, Karen Eilbeck, Kyle Ellrott, Susan Fairley, Khalid A. Fakhro, Helen V. Firth, Michael 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, Obi L. Griffith, Robert L. Grossman, Tudor Groza, Jaime M. Guidry Auvil, Roderic Guigó, Dipayan Gupta, Melissa 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 Janes, Francis Jeanson, Aina Jené, Amber L. Johns, Yann Joly, Steven J.M. Jones, Alexander Kanitz, Yoshihiro Kato, Thomas Keane, Kristina Kekesi-Lafrance
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.