Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Our Strategic Road Map defines strategies, standards, and policy frameworks to support responsible global use of genomic and related health data.
Discover how a meeting of 50 leaders in genomics and medicine led to an alliance uniting more than 5,000 individuals and organisations to benefit human health.
GA4GH Inc. is a not-for-profit organisation that supports the global GA4GH community.
To guide our collaborative, globe-spanning alliance, GA4GH relies on a Standards Steering Committee and an Executive Committee.
The Funders Forum brings together organisations that offer both financial support and strategic guidance.
The EDI Advisory Group responds to issues raised in the GA4GH community, finding equitable, inclusive ways to build products that benefit diverse groups.
Distributed across four Host Institutions, our staff team supports the mission and operations of GA4GH.
Curious who we are? Meet the people and organisations across six continents who make up GA4GH.
More than 500 organisations connected to genomics — in healthcare, research, patient advocacy, industry, and beyond — have signed onto the mission and vision of GA4GH as Organisational Members.
These core Organisational Members are genomic data initiatives that have committed resources to guide GA4GH work and pilot our products.
This subset of Organisational Members whose networks or infrastructure align with GA4GH priorities has made a long-term commitment to engaging with our community.
Local and national organisations assign experts to spend at least 30% of their time building GA4GH products.
Anyone working in genomics and related fields is invited to participate in our inclusive community by creating and using new products.
Wondering what GA4GH does? Learn how we find and overcome challenges to expanding responsible genomic data use for the benefit of human health.
Study Groups define needs. Participants survey the landscape of the genomics and health community and determine whether GA4GH can help.
Work Streams create products. Community members join together to develop technical standards, policy frameworks, and policy tools that overcome hurdles to international genomic data use.
GIF solves problems. Organisations in the forum pilot GA4GH products in real-world situations. Along the way, they troubleshoot products, suggest updates, and flag additional needs.
NIF finds challenges and opportunities in genomics at a global scale. National programmes meet to share best practices, avoid incompatabilities, and help translate genomics into benefits for human health.
Communities of Interest find challenges and opportunities in areas such as rare disease, cancer, and infectious disease. Participants pinpoint real-world problems that would benefit from broad data use.
See all our products — always free and open-source. Do you work on cloud genomics, data discovery, user access, data security or regulatory policy and ethics? Need to represent genomic, phenotypic, or clinical data? We’ve got a solution for you.
All GA4GH standards, frameworks, and tools follow the Product Development and Approval Process before being officially adopted.
Learn how other organisations have implemented GA4GH products to solve real-world problems.
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Help create new global standards and frameworks for responsible genomic data use.
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Work with like-minded groups committed to better data use in areas like rare disease, cancer, and infectious disease.
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29 Sep 2020
GA4GH has announced the release of its 2020-2021 Strategic Roadmap as well as the 2020 GA4GH Connection Demos.
The Global Alliance for Genomics and Health (GA4GH) has announced the release of its 2020-2021 Strategic Roadmap as well as the 2020 GA4GH Connection Demos. The news was delivered during opening remarks of the virtual GA4GH 8th Plenary Meeting, which drew over 700 attendees from more than 50 countries.
The GA4GH Strategic Roadmap outlines strategies, standards, and policies for enabling the responsible sharing of genomic and related health data. The 2020-2021 version consists of 43 deliverables that aim to address needs in the areas of data use and researcher identities, variation representation and annotation, federated analysis, privacy and security, regulatory and ethics, discovery, clinical and phenotypic data capture, and large scale genomics.
A gap analysis informed the high level strategic vision outlined in the 2020-2021 Roadmap and identified three key community imperatives for GA4GH to successfully advance responsible data sharing:
To address the first two imperatives, members of the GA4GH community launched the Federated Analysis Systems Project (FASP), a collaborative effort between several Work Streams and Driver Projects to integrate multiple GA4GH standards and implement them at multiple institutions. The demonstrations presented at the plenary meeting showed how researchers can leverage these implementations to discover controlled access data hosted in one computational environment and analyze them in another, all following best practices in privacy and security.
Given institutional, regional, national, and international regulations around sharing of genomic and related health data, the ability to perform federated discovery, access, and analysis of controlled access genomic data is of critical importance. The outputs of FASP presented at the 8th plenary meeting, summarized below, mark a major milestone along the GA4GH Roadmap to enable global genomic data sharing:
“The Connection Demos are an enormous success for the members of the GA4GH Work Streams, who have collectively dedicated thousands of hours over the last three years toward standards development,” said Ewan Birney, Deputy Director General of the European Molecular Biology Laboratory (EMBL), Director of EMBL’s European Bioinformatics Institute (EMBL-EBI), and Chair of GA4GH. “The demos show how this community’s work will enable interoperability across the genomics endeavour.”
“The gap analysis really drove home the fact that while GA4GH standards development may be on the right track, those standards will be less impactful if they aren’t quickly adopted and pressure tested at institutions with real use cases,” said Heidi Rehm, Medical Director at the Broad Institute, Chief Genomics Officer at Massachusetts General Hospital (MGH), and Vice-Chair of GA4GH, who co-led the gap analysis with Andrew Morris, Director of Health Data Research UK (HDR UK). “The GA4GH Connection Demos go a long way toward instantiating this real-world utility in the research space, but there is still more work to be done in the clinical setting.”
The third community imperative outlined in the 2020/2021 GA4GH Strategic Roadmap focuses on enabling better cross talk between GA4GH and the clinical community. In order to address this need, GA4GH will continue to advance its nascent Genomics in Health Implementation Forum, a collective of large scale initiatives focused on implementing genomics into clinical care which have committed to sharing resources, knowledge, and data using GA4GH standards. In 2021, GA4GH will expand on this work by launching a Clinical Advisory Group, which will bring together key stakeholders from a broader range of healthcare sectors to ensure its work meets the needs of this diverse community.
“The Genomics in Health Implementation Forum brings together large scale genomics initiatives ready and willing to share resources, knowledge, and (where possible) data, as well as a commitment to adopt GA4GH standards” said Kathryn North, Director of Murdoch Children’s Research Institute, Vice-Chair of GA4GH, and co-lead of the GHIF. “The establishment of the new Clinical Advisory Group will help us expand these efforts by bringing in a broader scope of healthcare stakeholders not yet represented within the GHIF.”
Finally, GA4GH will continue its efforts to align with external standards bodies such as HL7 and CDISC, which are the primary mechanisms by which hospitals, healthcare systems, and clinical research and drug development systems harmonize data. This work also dovetails with the first community imperative, which is focused not just on internal alignment of GA4GH standards, but also alignment with external standards in order to minimize redundancy and incompatibility.
“The Global Alliance for Genomics and Health has pulled off an enormous feat over the last few years, driving the conversation—and indeed the work—to break down silos within the genomics community and unlock the power of data to fuel precision medicine around the world.” said Morris. “I look forward to seeing this work continue as they advance the deliverables outlined in the 2020-2021 roadmap and beyond.”