Global Alliance for Genomics and Health marks two years of progress

10 Jun 2015

The Global Alliance for Genomics and Health (GA4GH), an international coalition dedicated to improving human health by maximizing the potential of genomic medicine, marked its second anniversary this month.



LEIDEN, NETHERLANDS – The Global Alliance for Genomics and Health (GA4GH), an international coalition dedicated to improving human health by maximizing the potential of genomic medicine, marked its second anniversary this month. Today, more than 250 GA4GH Members are coming together in the Netherlands to collaborate on the development of innovative, integrated solutions that promote genomic and clinical data sharing, and the creation of a global learning system in genomic medicine.

Since its inception in June 2013, GA4GH has grown to include over 320 organizations across 32 countries and made important progress to unite and guide the field. Members include world leaders in healthcare, research, patient and disease advocacy, life science, and information technology. More than 700 individuals around the globe are actively developing dozens of tools, methods, and approaches to facilitate effective, responsible data sharing.

“Two years ago, we set out to engage a diverse set of leaders around the need to enable responsible sharing of genomic and clinical data. This has developed into a vibrant international effort beyond what we could have imagined when we first came together,” said David Altshuler, MD, PhD, Chair of the GA4GH Steering Committee. “In 2015 our mission is more critical than ever, as we increasingly see genomic information having positive impact on diagnosis, targeting, and development of new medicines.”

At today’s third Plenary Meeting, GA4GH Members are sharing progress on priority tools and projects and discussing ways to promote the use of these interoperable methods to encourage data sharing. Members are focusing on work being done to link existing solutions, emerging areas of interest like e-Health, and issues such as big data challenges and how best to align with major national and institutional efforts arising in genomic medicine.

“The future of medicine requires a collective commitment to developing scalable and interoperable approaches to sharing data,” said Francis S. Collins, MD, PhD, Director of the National Institutes of Health. “GA4GH has made important early progress by uniting critical communities, identifying challenge areas, and collaborating on efforts to help the world realize the benefits of genomic data sharing.”

GA4GH Working Groups have already developed products that lay a technical and regulatory foundation for data sharing, including:

  • A regulatory Framework to guide the responsible sharing of genomic and health-related data;

  • A GA4GH Genomics API to enable the interoperable exchange of data in DNA sequence reads; and

  • A Security Infrastructure that recommends policy and technology options for the ecosystem

“The world is on the verge of an explosion in genomic data. If we fail to effectively navigate this rocky terrain, we will miss a tremendous opportunity to enable a new era of medical discovery and delivery,” said Tom Hudson, newly announced Chair-Elect of the GA4GH Steering Committee and President and Scientific Director of the Ontario Institute for Cancer Research. “GA4GH has not only brought critical communities to the table, but is showing the results of what happens when these diverse leaders combine their experiences and work together.”

“Health systems around the world must turn into learning systems that responsibly share information—we owe it to every citizen in the world to do this right,” said Eric Lander, Founding Director of the Broad Institute of MIT and Harvard. “GA4GH has taken critical steps to ensure that we unlock the transformational power of genomic medicine.”

GA4GH Members are now building off early foundational products. New Consent and Privacy and Security Policies released this week follow the guidelines and principles of the regulatory Framework. GA4GH recently developed a catalogue of current activities in eHealth and in April, a beta Reference Implementation for the Genomics API was released. Finally, a “data sharing start-up kit” is underway which will include downloadable APIs and reference implementations, as well as policies and standards necessary to implement them responsibly.

“GA4GH tools facilitate interoperability and allow researchers and clinicians to tap the power of genomic data on a global scale, while ensuring participants feel secure that their interests are protected,” explained David Haussler, Chair of the GA4GH Data Working Group and Scientific Director of the Genomics Institute at UC Santa Cruz. “No one of our Member organizations is in the position to provide every tool that is needed, but together we can really move the needle.”

“We started the Global Alliance two years ago to address current barriers to genomic and clinical data sharing before they became entrenched,” said Bartha Knoppers, Chair of the GA4GH Regulatory and Ethics Working Group and Director of the Centre of Genomics and Policy at McGill University. “We are working to guide the responsible sharing of genomic and health-related data around the world based on a human rights approach.”

Several projects advanced by GA4GH act as testing grounds and demonstrate immediate, real-world value:

  • A global BRCA Challenge to merge and accelerate efforts to interpret BRCA 1 and 2 variants, holding its

  • inaugural meeting June 12-13 at UNESCO in Paris co-organised by the Human Variome Project;

  • Matchmaker Exchange, a project designed to help patients and doctors grappling with rare genotypes and phenotypes to find one another through a federated network of databases; and

  • The Beacon Project, which tests the willingness of institutions to share data internationally and now includes over 250 datasets across 15 institutions, including the GA4GH Beacon Network.

“Right now consortia around the world are collecting genomic sequence data, but many efforts are happening in parallel, not in concert,” said Michael Stratton, Director of the Wellcome Trust Sanger Institute. “The Global Alliance is providing packaged, workable solutions and engaging with large-scale data collection and sharing programs around the world.”

“If we don’t ensure data interoperability now, within a few years it’s going to be too late,” said Kathryn North, Vice-Chair of the GA4GH Steering Committee and Director of the Murdoch Childrens Research Institute. “We must all work together to realize the potential of genomic research, reveal the underlying causes of genetic disorders, and transform the way individuals are treated and diagnosed.”

A Road Map produced in early 2015 lays out specific near-term goals for GA4GH. These goals align with the Global Alliance’s vital initial mission and will guide today’s Plenary Meeting.


The Global Alliance for Genomics and Health is an international, non-profit alliance formed to help accelerate the potential of genomic medicine to advance human health. Bringing together over 300 leading organizations working in healthcare, research, disease and patient advocacy, life science, and information technology, GA4GH Members are working together to create a common framework of tools, methods, and harmonized approaches and supporting demonstration projects to enable the responsible, voluntary, and secure sharing of genomic and clinical data. Learn more at:

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