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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22 Oct 2019
The Global Alliance for Genomics and Health (GA4GH) has unanimously approved five new standards to enable responsible international genomic data sharing.
Image Credit: Stephanie Li, GA4GH
The Global Alliance for Genomics and Health (GA4GH) today announced the unanimous approval of five new standards to enable responsible international genomic data sharing. GA4GH Chair, Ewan Birney, made the announcement at the organization’s 7th annual Plenary Meeting in Boston, USA.
The five deliverables—Crypt4GH, Variation Representation, Phenopackets, Tool Registry Service API, and the Data Security Infrastructure Policy—were developed as part of the GA4GH Connect five-year Strategic Plan, announced in 2017. The GA4GH Regulatory and Ethics Work Stream (REWS) has also completed a comprehensive review and update of its existing policy frameworks and guidance documents.
As part of a larger suite of deliverables, these standards serve as a blueprint for a federated network of responsible, secure genomic and health data sharing. The standards address issues in data security, cloud computing, phenotype and variant data exchange, and the ethical implications of personal data use.
“The collaboration and effort the work stream contributors have put towards the production of these standards is helping all of us in the genomics community as we work to advance precision medicine,” said Birney.
The new standards were produced by active contributors collaborating across each of the eight GA4GH Work Streams, with input from its 23 Driver Projects, to meet the present-day needs of the genomic data sharing community.
“The newly approved standards and updates are a major milestone in our work under GA4GH Connect, and we anticipate several more standards will be approved in the coming months,” said GA4GH CEO Peter Goodhand. “We are also launching an update to the GA4GH Connect roadmap that accelerates our goal of enabling a federated, interoperable network of genomic data tools and resources.”
|Crypt4GH is a new standard file container format that allows genomic data to remain secure throughout their lifetime, from initial sequencing to sharing with professionals at external organizations.|
|Variation Representation Specification is an extensible framework of computational models, schemas, and algorithms to precisely and consistently exchange genetic variation data across communities.|
|Phenopackets are a file format allowing phenotypic information to be represented alongside genotypic and medical information for standard phenotypic data exchange within medical and scientific settings.|
|Tool Registry Service API is a standard for exchanging tools and workflows to analyze, read, and manipulate genomic data, allowing genomics researchers to bring algorithms to datasets in disparate cloud environments.|
|Data Security Infrastructure Policy is a set of security best practices for standards development and implementation within the context of GA4GH to facilitate the responsible sharing and processing of genomic data.|
|Revised Regulatory and Ethics Policies include updates to the GA4GH Consent Policy and GA4GH Data Privacy and Security Policy, and a reaffirmation of the 2014 Framework for Responsible Sharing of Genomic and Health-Related Data, to ensure they meet the demands of the current era of genomic medicine.|