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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9 Jan 2017
If every individual has millions of unique variants in their DNA, how can clinicians be expected to tease out a handful of disease causing mutations from a haystack of inconsequential variants? To aid their cause, public human genomic variant databases have sprung up to catalog variants that cause (or do not cause) disease.
The following post was written for Bill of Health, a blog by the Petrie-Flom Center at Harvard Law examining the intersection of law, healthcare, biotech, and bioethics. Adrian Thorogood is the Manager for the GA4GH Regulatory and Ethics Work Stream and an author on a paper recently published in Genetics in Medicine on legal responsibilities for the quality of data shared between laboratories, public variant databases, and physicians in clinical genomics.
If every individual has millions of unique variants in their DNA, how can clinicians be expected to tease out a handful of disease causing mutations from a haystack of inconsequential variants? To aid their cause, public human genomic variant databases have sprung up to catalog variants that cause (or do not cause) disease. These databases aggregate, curate and share data from research publications and from clinical sequencing laboratories who have identified a “pathogenic”, “unknown” or “benign” variant when testing a patient.
International sharing of variant data is “crucial” to improving human health. To inform patient diagnosis or treatment, it is essential that data be accurate and up to date. If variants are collaboratively interpreted by laboratories, databases and treating physicians, who is ultimately responsible for the quality of data? If one actor in the chain does a shoddy job of interpreting variants, resulting in harm to patients, who could be liable? This is the question I pose with Professors Bartha Knoppers and Robert Cook-Deegan in a recent article in Genetics and Medicine: “Public Variant Databases: Liability?”.
This question came up through our work with a database called the BRCAExchange.org, an international collaboration to share as much information as we can about how variants in the BRCA 1 and 2 genes influence breast and ovarian cancer risk through a single portal. The BRCA Exchange is supported by the Global Alliance for Genomics and Health (GA4GH), a public-private collaboration committed to demonstrating the value and feasibility of sharing genomic and health related data (read more about the Global Alliance and BRCA Exchange in our Perspective Paper here).
Members of the BRCA Exchange team asked us what legal risks databases might face if a laboratory submitted an improperly interpreted variant, or if database staff slip up when aggregating and sharing data over the web. Indeed, concern is bubbling across the genomics community over the recent lawsuit Williams v Athena. The plaintiff in the case alleges a laboratory was negligent in determining the clinical meaning of a variant. As a result, it is alleged that a young boy suffering from seizures received the wrong medication, leading to his death. While these allegations have not yet been established in court, the case hints at the stakes variant interpretation has for patients. It also raises questions about what legal duties fall respectively to laboratories and treating physicians in the genetic testing context, and what standard of care applies to laboratories interpreting the clinical meaning of a variant.
In the data sharing context, three parties may participate in genomic interpretation: the laboratory, the database, and the treating physician. Between the heavy regulation of laboratory processes and the legal duties physicians owe their patients, it is not clear that variant databases have legal responsibility for data quality. This may change as variant interpretation and database management standards solidify. As genome sequencing in the clinic and data sharing mature, it is likely that regulation will emerge for variant databases. Indeed, the US ClinGen variant database community has highlighted the importance of engaging with regulatory stakeholders to determine standards for variant interpretation and database management. The FDA recently proposed standards for variant databases as part of a scheme to regulate genomic diagnostic tests. Under this scheme, FDA-“recognized” variant databases could be relied on as evidence for a test’s clinical validity (see the GA4GH consultation response here).