In today’s Science, the Global Alliance for Genomics and Health (GA4GH) calls for a federated data ecosystem for sharing genomic and clinical data. The authorship, which includes McGill professor Bartha Knoppers and McGill researchers Stephanie Dyke and Adrian Thorogood, as well as a diverse team of international leaders in academia, research, medicine, and industry, argues that a common framework of principles, protocols, and interoperable technical systems are necessary to enable responsible and effective data sharing.
GA4GH was established in 2013 to bring the community together to build the tools and establish the standards necessary to achieve that goal. Today, it counts more than 400 organizations and more than 700 individuals in its membership, which spans more than 70 countries. “These stakeholders are working together across traditional boundaries to create the common framework that will allow us to make best use of the millions of genome sequences that currently sit in siloed databases around the globe,” says Peter Goodhand, GA4GH Executive Director and a member of the author group.
“The GA4GH is both an idea and an ideal,” says Knoppers, who also serves on the GA4GH Steering Committee and as chair of the Regulatory and Ethics Working Group. “An idea because it requires imagination, an ideal because it is founded on the human right of all citizens to benefit from the advances of science.”
To date, GA4GH has created a toolkit of diverse products, including the Genomics API, which allows disparate technology services to exchange genotypic and phenotypic data, as well as the Framework for Responsible Sharing of Genomic and Health Related Data, which outlines the basic principles and core elements for responsible data sharing. GA4GH has also catalyzed the development of three data sharing projects which aim to illustrate the value of sharing data in real world contexts. These consist of (i) an open-ended approach to sharing data across the Internet (the Beacon Project), (ii) an international collaboration among breast cancer genetics experts (the BRCA Challenge), and (iii) a peer-to-peer network of clinicians (Matchmaker Exchange).
In addition to outlining successes, the paper notes a variety of remaining challenges to sharing data across national and institutional boundaries. For example, the membership is currently working on solutions to secure data access while maximizing the scope of information that can be shared, to create tools that are flexible enough to be readily implemented in different knowledge domains, and to establish sustainable funding models that support data curation, hosting, and computation.
“Private funders and national governments will need to be involved on some level to support these activities so that clinicians and scientists may access as much free, curated data as possible,” says Mike Stratton, Director of the Wellcome Trust Sanger Institute, CEO of the Wellcome Genome Campus, and a member of the GA4GH Strategic Advisory Board. “The Sanger Institute has supported the Global Alliance since its inception as we are committed to helping researchers and clinicians access and freely share the genomic and related health data they need to transform human health.”
“Millions of genome sequences are being generated around the globe, but to gain the full benefits from these data — to advance human health and to prevent and treat disease — laboratory and clinical investigators will need more effective means of access to data, regardless of where the data are stored,” said Professor Harold Varmus of Weill Cornell Medical College, former Director of the U.S. National Cancer Institute, and Chair of the GA4GH Scientific Advisory Board. “The only way to do that is for the global community to come together across traditional boundaries — be they national, institutional, or technical — to create a federated ecosystem that works for everyone. The GA4GH has begun to do that in the projects described in this new report.”
The Global Alliance for Genomics and Health is an international, non-profit alliance formed to accelerate the potential of genomic medicine to advance human health. Bringing together over 400 leading organizations working in healthcare, research, disease and patient advocacy, life science, and information technology, GA4GH Members are working together to create a common framework of tools, methods, and harmonized approaches and supporting demonstration projects to enable the responsible, voluntary, and secure sharing of genomic and clinical data.
June 10, 2016