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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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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See new projects, updates, and calls for support from the Work Streams.
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14 Jun 2018
The GA4GH 2018 Connect Meeting brought together more than 120 active GA4GH Contributors to discuss the current state of Roadmap Deliverables. The meeting included full-group sessions, working meetings of each of the eight Work Streams, and three cross-cutting breakout sessions. Read more below.
Each Work Stream gave a ten-minute presentation on Day 2 of the meeting, highlighting current work and goals for the meeting. They had the opportunity to meet as a small group three times and gave a report-back during to the full group during the closing session on Day 3. Key highlights, as well as links to meeting minutes (where available) are captured below.
Clinical & Phenotypic Data Capture
Several members of the Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream met on May 29 and 30 as part of a PhenoPackets hackathon, organized by the Monarch Initiative. Much of the discussion at this meeting was focused on aligning PhenoPackets with the HL7 FHIR standard. At the GA4GH Meeting, the Clin/Pheno group continued hacking on this topic, and also reviewed terminologies, ontologies, and data types of interest to Driver Projects. Key actions for this group are to define the use cases for PhenoPackets, extend the GKS Variant Annotation Modelling requirements to include best practices for the use of ontologies and terminologies, and to develop an engagement strategy with the Partner Engagement Group.
Read the Clin/Pheno Meeting minutes
During the meeting, the Cloud Work Stream met with its “pressing need” Driver Projects: Human Cell Atlas, Genomics England, and TOPMed/NIH Genomic Data Commons. They discussed a 1×1 demo of the Cloud testbed, and a path to a more complete demonstration, which was identified as a key action from the meeting.
Read the Cloud Meeting minutes
The Data Security Work Stream focused its discussions on progress within its two subgroups: Breach Response and AAI. The group proposed adding two more deliverables from the Breach Response subgroup: in addition to developing a Data Breach Reporting Protocol, they will also work on Vulnerability Management and a Data Breach Management Best Practice Guide for use within GA4GH Driver Projects. They also aim to review a draft AAI profile by 6th Plenary.
Read the Breach Response Meeting minutes
Data Use & Researcher Identities
The Data Use & Researcher Identities (DURI) Work Stream used the meeting to clarify definitions of data use categories based on driver project input, to review the next draft of the Data Use Ontology, and to define the most critical researcher identity claim types. Key actions from the meeting include working with Driver Projects to develop a DUO discovery demonstration and a Researcher Identity interoperability demonstration.
Read the DURI Meeting minutes
The Discovery Work Stream discussed collaborating across Work Streams to promote sharing between large-scale initiatives and the development of a global network for genomics and clinical data discovery. They also discussed re-identification risk inherent in many GA4GH deliverables proposed a GA4GH-wide position statement on re-identification to reduce perceived novelty. In addition to pushing forward the Search and Beacon API’s, the team’s next steps include following up with ClinVar on alternate strategies for its “VariantEx” deliverable and piloting an international case exchange between Australian Genomics and Genomics England.
Genomic Knowledge Standards
The Genomic Knowledge Standards (GKS) Work Stream discussed progress on its roadmap deliverables, including a focus on coordinating the two GKS subgroups, reviewing types of variants that are in scope for the GKS standards, and a presentation of a use case from ClinGen. The group also discussed overlap with other Work Streams that are addressing different aspect of variant annotation and representation.
Read the GKS Meeting minutes
Large Scale Genomics
The Large Scale Genomics (LSG) Work Stream discussed progress on streaming sequence data/htsget, read file formats, variation file formats, RNA sequencing data, and reference retrieval. The team’s next steps include convening new subgroups to discuss variation scaling and nanopore sequencing and to push the Reference Retrieval API and the RNASeq expression matrix toward product approval.
Read the LSG Meeting minutes
Regulatory & Ethics
The Regulatory and Ethics Work Stream (REWS) discussed progress on their primary roadmap deliverables: Return of Results, Participant Values Survey, and the International Code of Conduct for Health Research. Key actions for the REWS include (1) updating the GA4GH website with a statement on responsible genomic data sharing, and (2) developing a regulatory & ethics review process for all GA4GH deliverables.
A panel discussion of six Driver Project technical representatives addressed how projects plan to share data and the types of data they plan to share; what GA4GH tools they are using or plan to use; and issues of privacy and security around sharing genomic and health related data.
Read the detailed panel discussion minutes
Variants and Structuring Associations
Representatives from the Discovery, Clin/Pheno, Large Scale Genomics, Cloud, and GKS Work Streams discussed questions of variant annotation and representation across a variety of Roadmap activities, including aligning the VCF reads file format maintained by the LSG Work Stream and the Variant Modeling Consortium standard being developed by the GKS Work Stream. During the larger group meeting, the topic was raised again and it was noted that outreach to the Hail group may be warranted.
Read the Variant Meeting minutes
Representatives from the REWS, Data Security, Cloud and DURI Work Streams focused primarily on establishing a universally accepted researcher identity mechanism in order to streamline responsible access to data. They discussed the concept of “registered access”, current mechanisms for accessing All of Us and Australian Genomics data, and the need for a flexible data access “passport” or “library card” that accommodate varying levels of stringency. They also discussed whether implementation of this type of mechanism would mean data stewards would drop existing data access agreement requirements when sharing data with other organizations. They recommended the library card model be piloted within ELIXIR and an NIH project, like All of Us.
Representatives from the Cloud, Discovery, Genomic Knowledge Standards, DURI, and Large Scale Genomics Work Streams discussed Roadmap deliverables with multiple Work Stream stakeholders including the Data Object Service-supported object formats, Discovery search, and htsget.
Read the Data Retrieval meeting minutes
During the meeting, Several Driver Projects named deliverables of particular interest and Work Streams stated deliverables to be prioritized for October 2018 release:
Driver Project Priorities
Work Stream Priorities