Global Alliance for Genomics and Health Members Meet to Advance Genomic Data Sharing

More than 250 Leaders Convene at second Plenary Focused on Progress and Near-Term Impact

Global Alliance for Genomics and Health Members Meet to Advance Genomic Data Sharing

More than 250 Leaders Convene at second Plenary Focused on Progress and Near-Term Impact

The Global Alliance for Genomics and Health convened its second major meeting of 2014 today, bringing together more than 250 international leaders to collaborate on the development of innovative solutions to accelerate sharing of genomic and clinical data. At their plenary meeting, held in San Diego, California, Alliance members shared progress to date and discussed next steps for the effort.

The Global Alliance is an international coalition of more than 140 member organizations dedicated to improving human health by maximizing the potential of genomic medicine. The group's diverse membership includes world-leading institutions in healthcare, research, patient and disease advocacy, life science and information technology, who are working together on open interfaces and catalytic projects to enable effective and responsible data sharing and to guide this quickly evolving field.

"The Global Alliance is focused on developing approaches that will enable sharing of genomic and clinical data. In just over one year, we have established a vibrant international effort to accelerate progress in harmonizing regulations and ethics, methods for sharing genomic and clinical data, and approaches to privacy and security," said David Altshuler, Chair of the Global Alliance Steering Committee and Deputy Director of the Broad Institute of Harvard and MIT. "Our members are dedicated to producing work products and to undertaking data sharing projects that break down barriers and increase learning from data."

Following its formation in 2013, the Global Alliance has sparked collaboration that involves hundreds of stakeholders globally and released several major products, including a regulatory Framework to guide the responsible sharing of genomic and health-related data and a GA4GH Genomics API to streamline specific technical aspects of data sharing and allow for more seamless exchange globally.

The Alliance's plenary meeting coincided with the Annual Meeting of the American Society of Human Genetics (ASHG), and the Global Alliance will also hold an information session for ASHG attendees on Monday, October 20.

"Our field is rapidly evolving, and the Global Alliance continues to be at the forefront of efforts to create harmonized approaches and catalyze projects that drive research forward," said Cynthia Morton, President of ASHG. "We believe that this international partnership will be highly effective in unlocking potential advancements in human health, and we're excited to contribute substantially to the capabilities, capacity, and progress of the Global Alliance in the coming years."

In addition to highlighting best practices and developing targeted methods to advance responsible data sharing, Alliance members are advancing data sharing projects to demonstrate value and promote real-world learning. These include a global BRCA Challenge, which aims to learn from genotype and phenotype data from many studies without compromising patient privacy, thereby increasing the ability to interpret BRCA1 and BRCA2-related cancer risks.

Another example is the Matchmaker Exchange project, designed to help patients and doctors grappling with rare genotypes and phenotypes to overcome siloed data, find one another through a federated architecture, and work together.

"The Global Alliance's work will allow researchers and clinicians to tap into the power of data networks on a global scale," said Keith Yamamoto, Vice Chancellor for Research and Executive Vice Dean of the School of Medicine at the University of California, San Francisco (UCSF), who gave opening remarks at the meeting. "The Alliance is expanding the boundaries of data sharing to improve human health, while promoting meaningful standards. The field needs this effort as we move forward and work to harness the transformational potential of biomedicine."

On 18 September 2014 the Global Alliance adopted a Constitution to formally guide and govern the structure and membership criteria of the organization. In less than a month, more than 135 organizations of the more than 200 that had originally signed a Letter of Intent have already transitioned to full members of the Global Alliance for Genomics and Health. It is expected that many more organizations and individuals will do so in the coming months.

"At a time of rapid change, the Global Alliance is coming together for our second plenary meeting in San Diego to look ahead to our next steps and achievable goals in the next few years," said Martin Bobrow, Vice Chair of the Global Alliance Steering Committee and Emeritus Professor of Medical Genetics at the University of Cambridge. "As was evident at this critical meeting, the Global Alliance will continue to promote international collaboration to identify, develop, and promulgate innovative approaches to data sharing and to support efforts already underway."

The GA4GH Genomics API is built on the file formats developed over the last five years for large-scale genomic sequencing projects, now also managed by the Global Alliance, but features cleaner models, with a modern, easy-to-use data description schema and a web-enabled interface.

"Genome sequencing is transitioning from being a powerful research tool to making an enormous impact in clinical diagnostics and care," said Dr Richard Durbin, Acting Head of Computational Genomics at the Wellcome Trust Sanger Institute and leader of the Genome Informatics group. "This API from the Global Alliance Data Working Group will enable genomic data processing to move beyond research file formats into modern computing and data architectures, facilitating controlled data sharing and the effective use of these new technologies for both clinical and research benefit."

"Modern DNA sequencing, when coupled with modern data and cloud technology, can lead to breakthroughs in understanding and improving human health. This new Genomics API is a big step forward," said David Glazer, co-chair of the Reads Task Team and Engineering Director for Google Cloud Platform and Google Genomics. "Google already supports Version 0.1 of the API, and we'll be adding support for Version 0.5 soon, as well as continuing to contribute to the Data Working Group."

"The Global Alliance is breaking new ground in combining genomic sequencing and clinical care. Amazon Web Services is proud to support these efforts, and help in defining new operating models, such as the latest Genomics API," said Matt Wood, General Manager of Data Science, Amazon Web Services, Inc. "We view these new APIs as a vital component for collaboration and development of next-generation tools that can run cost-effectively at massive scale."

"We are using the Global Alliance's work to enable apps for the TBResist initiative that bridge from raw sequence data to clinically useful phenotypes," said Professor Gil Alterovitz, a faculty at the Harvard Medical School and director of the Biomedical Cybernetics Laboratory. "Also, the Substitutable Medical Applications and Reusable Technology (SMART) Genomics platform is using the Global Alliance interface to enable interoperability between electronic medical record information (HL7) and raw genetic sequence information."

Other Working Groups of the Global Alliance for Genomics and Health are currently identifying best practices to integrate genomic data into clinical practice, reaching agreement on security protocols, and developing a framework to address ethics and regulatory considerations.

Notes to Editors

Global Alliance for Genomics and Health

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 140 leading organizations working in healthcare, research, disease and patient advocacy, life science, and information technology, partners in the Global Alliance 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.

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Jennifer Skinner

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