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.
Help us transform the future of genomic data use! See how GA4GH can benefit you — whether you’re using our products, writing our standards, subscribing to a newsletter, or more.
Help create new global standards and frameworks for responsible genomic data use.
Align your organisation with the GA4GH mission and vision.
Solve your real-world data problems with support from this valuable network of global institutions.
Work with like-minded groups committed to better data use in areas like rare disease, cancer, and infectious disease.
Share your thoughts on all GA4GH products currently open for public comment.
Solve real problems by aligning your organisation with the world’s genomics standards. We offer software dvelopers both customisable and out-of-the-box solutions to help you get started.
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10 Nov 2021
The Global Alliance for Genomics and Health (GA4GH) takes center stage in the second issue of the new journal, Cell Genomics.
The Global Alliance for Genomics and Health (GA4GH) takes center stage in the second issue of the new journal, Cell Genomics. Ten papers make up this special issue, including a marker paper that provides a high-level overview of the GA4GH organization, deliverables, and strategy for enabling interoperability across the international genomics landscape. The issue also includes a commentary on the concept of federation, a preview article on the impact of GA4GH on global interoperability from the leads of the NIH All of Us research program (a GA4GH Driver Project), three technical standards papers, and implementation papers from CanDIG (also a Driver Project) and the Broad Institute (a GA4GH Host Institution). Rounding out the collection are a Q&A with members of the GA4GH Executive Committee and a series of brief commentaries from active contributors on their personal experiences of collaborating with GA4GH. The cover art was created by GA4GH Creative Lead, Stephanie Li.
Orli Bahcall, Editor-in-Chief of Cell Genomics and first individual member of GA4GH, invited the papers to be a part of the roll out of the new journal, which is de novo in the field as the first premier research journal to adopt the Gold Open Access publishing model. By focusing on open science and dissemination, Cell Genomics holds true to the values of the community it represents. “For a field in which the foundation has been based on open access resources and methods, it is essential that the publications are also open access without restrictions,” said Bahcall in a recent interview.
In the marker paper, titled “GA4GH: International policies and standards for data sharing across genomic research and healthcare,” first author Heidi Rehm (vice-chair of GA4GH) and more than 200 co-authors from the GA4GH contributor community present the organization’s strategies for addressing some of the most pressing challenges of the genomic data revolution. The authors dive into the GA4GH toolkit of secure, interoperable technical standards and policy frameworks, their relevance to key domains of research and clinical care, and the organization’s future plans.
“The genomics research community has had a long history of broad international collaboration,” said Rehm. “Today we need to build on that legacy as we move into the era of genomic medicine. The work of GA4GH will help catalyze an unprecedented effort to share data across research and clinical domains and will help ensure that all populations can access the benefits promised by the field.
In a commentary, “International Federation of Genomic Medicine Databases Using GA4GH Standards,” first author Adrian Thorogood and colleagues present the organization’s perspective on the concept of federation, defined as a consortium of independent organizations that each host their own data in a secure, standardized manner so that users can responsibly access data across multiple resources and derive otherwise obscured insights.
Three of the papers present work on streamlining the data access process across the two axes of data use and researcher identity, spearheaded by the GA4GH Data Use and Researcher Identities Work Stream. Two of these papers, “The Data Use Ontology [DUO] to streamline responsible access to human biomedical datasets” (first authors Jonathan Lawson and Moran Cabili) and “GA4GH Passport standard for digital identity and access permissions,” (first authors Craig Voisin, Mikael Linden, Stephanie Dyke, and Sarion Bowers) are the first publications to formally introduce those standards to the scientific community.
The passports standard encodes machine-readable data access permissions for individual users to access biomedical datasets across a federated network of shared authentication and authorization processes. The Passports paper presents a series of real-world implementations at ELIXIR Europe, the US National Institutes of Health, and the Autism Sharing Initiative.
DUO provides a mechanism for data stewards to consistently and unambiguously represent data use terms while the Passport standard defines a machine-readable digital identity that conveys roles and data access permissions for individual users. An empirical evaluation of DUO is presented in a separate paper titled, “Empirical Validation of an Automated Approach to Data Use Oversight,” from co-first authors Jonathan Lawson and Moran Cabili and their colleagues at the Broad Institute of MIT and Harvard.
In addition to data access, the special issue also presents work to streamline the process of reliably exchanging genetic variation data between clinicians, researchers, and testing laboratories. In “The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation”, first author Alex Wagner (Nationwide Children’s Hospital and the Ohio State University) and colleagues present VRS, which was developed in partnership with national information resource providers, public initiatives, and diagnostic testing laboratories. The VRS framework provides a semantically precise and computable representation of variation that complements contemporary human-readable and flat file standards for variation representation.
“We are extremely proud of this compendium of GA4GH papers,” said Ewan Birney, Chair of GA4GH, Deputy Director General of EMBL and a co-senior author on the marker paper. “The issue marks an important moment for the organization, as we move toward more mature standards that are beginning to see wide adoption across the globe.”
“The entire GA4GH community has come together across time and space to deliver the resources described in this special issue,” said GA4GH CEO Peter Goodhand. “It represents an important milestone in the evolution of this organization.”
“GA4GH is so successful because of the spirit of collaboration and engagement that underpins everything we do,” said GA4GH Vice-Chair, Kathryn North. “The process of putting this issue together further reflects the dedication, passion, and commitment of our community and we are delighted to see it come to fruition.”
“The Wellcome Sanger Institute has been a Host Institution of GA4GH since it’s earliest days, and many members of our community are authors on these papers. We are delighted to be able to support — and participate in — this important global initiative,” said Julia Wilson, Associate Director of the Wellcome Sanger Institute and a long-time contributor to GA4GH.