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.
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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.
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29 Oct 2015
The Beacon Project is one of three data sharing demonstration projects of the Global Alliance for Genomics and Health (GA4GH). It is an effort to enable international sites to share genetic data to improve human health in the simplest of technical contexts. It is based on a yes/no query that tells searchers whether a specific genetic variant is contained in a participating database.
TORONTO, CANADA — The Beacon Project is one of three data sharing demonstration projects of the Global Alliance for Genomics and Health (GA4GH). It is an effort to enable international sites to share genetic data to improve human health in the simplest of technical contexts. It is based on a yes/no query that tells searchers whether a specific genetic variant is contained in a participating database.
Recent research published in American Journal of Human Genetics by Carlos Bustamante and Suyash Shringarpure of Stanford University demonstrates a potential to use the Beacon Network to determine the presence or absence of an individual’s genome in a particular Beacon database, but only in the currently exceptional scenario in which that genome, or the genome of a very close relative, is already known to the person making the query.
“We welcome the paper and are pleased to now have careful quantitative analysis of this particular risk scenario. We look forward to ongoing interactions with the authors and others to ensure beacons provide maximum value while respecting privacy,” said Peter Goodhand, executive director of the Global Alliance for Genomics and Health.
“Sharing of genomic data is vital for the future of biomedical sciences and genomic medicine. It has been great to work closely with GA4GH to address the issues raised in our paper and execute policy changes as new theory is developed,” said Bustamante. “These are subtle problems and it is only as we begin to engineer and implement that they come to the forefront. The GA4GH Beacon team had already thought about many of the issues we raised and our work helped provide a theoretical framework to guide design.”
“A researcher can use the Beacon Network to discover whether or not genetic data relevant to his or her work are present in a Beacon database,” said David Haussler, Vice Chair of the GA4GH Steering Committee. “If they are, that researcher might make further arrangements with the appropriate institution to obtain more information, in compliance with that institution’s privacy policies.” The Beacon approach was carefully chosen both for its ease of use and to not overly expose genomic data to privacy or security risks, as neither entire individual genome sequences nor patient information are currently shared directly through a Beacon.
In most contemporary circumstances, if someone has already obtained a person’s genetic sequence elsewhere, there is not much more information to be gained by learning that this sequence also appears in a Beacon database. However, one can imagine situations in which it is possible to obtain, perhaps illegally, a person’s genome without other information. In those scenarios, learning that the genome is among those present in a specific institutional Beacon database could reveal sensitive information. For example, if a database is almost exclusively associated with a known phenotype, discovering that an individual’s genome is in the database may allow inferences about the individual’s phenotype.
Beacons conform to the technology standards and operational guidelines defined in the GA4GH Security Technology Infrastructure and adhere to the Framework for the Responsible Sharing of Genomic and Health-Related Data. Additionally, the Beacon Project has been working with GA4GH experts, including the paper’s authors, since the project’s inception to mitigate potential privacy concerns directly related to this issue.
Mitigation efforts, which adhere to the best practices outlined in the GA4GH Privacy & Security Policy, include:
Aggregating data among multiple Beacons to increase database size and obscure the database of origin;
Creating an information budgeting system to track the rate at which information is revealed and to restrict access when the information disclosed exceeds a certain threshold; and
Introducing multiple tiers of secured access, including requiring users to be authorised for data access and to agree not to attempt specific risky scenarios.
“GA4GH is committed to enabling genomic data sharing for the betterment of medicine in the most responsible and secure ways possible,” said Thomas Hudson, Chair of the GA4GH Steering Committee. “Our continued work will build the foundation for smarter and more secure data sharing — a critical task as data networks become even more complex and information-rich.”
For more information about the Beacon Project, visit https://beacon-network.org//#/ and read a recent profile in Bio-IT World: http://www.bio-itworld.com/2015/8/14/beaconproject-cracks-door-genomic-d….
The Global Alliance for Genomics and Health (GA4GH) is an international, non-profit alliance formed to help accelerate the potential of genomic medicine to advance human health. Bringing together over 370 leading organizations working in healthcare, research, disease and patient advocacy, life science, and information technology, partners in GA4GH are working together to create a common framework of standards and harmonized approaches to enable the responsible, voluntary, and secure sharing of genomic and clinical data. Learn more at: http://genomicsandhealth.org.