The Global Alliance of Genomics and Health holds first partnership meeting

Global Alliance for Genomics and Health grows to over 150 partners, moves forward on approaches to meet the challenge of genomic and clinical data sharing and advance human health

Global Alliance for Genomics and Health

The Global Alliance of Genomics and Health is dedicated to enabling secure sharing of genomic and clinical data.

Almost two hundred of the world’s leading experts in healthcare, biomedical research, technology, ethics, and patient advocacy met today for the first face-to-face GA4GH partner meeting. The key challenge partners addressed is that while a wealth of genome sequence information is set to be gathered, such information becomes interpretable only when compared across many individuals. Yet existing data sets sit in separate silos, with incompatible methods and under complex regulation, creating barriers to such comparison and possible discovery. The meeting focused on coordinating the development of harmonised approaches and interoperable methods to enable learning and make it easier for all to explore the transformational potential of genomic data.

“Just over a year ago, leaders in the field came together to discuss the historic opportunity to utilise the growing wealth of genetic data to benefit humanity, and the growing challenges of data silos and incompatible information that must be overcome to realise this benefit. In a remarkably short time we have progressed from initial conversations to a working alliance made up of over 150 non-profit and for-profit organisations in over 20 countries. Together, we are collaborating to share knowledge and experience, identify and disseminate best practices, and, where needed, develop high-impact, innovative solutions to accelerate progress to benefit medicine and human health.”

David Altshuler Chair of the GA4GH Transitional Steering Committee, Deputy Director of the Broad Institute of Harvard and MIT, and a physician at Massachusetts General Hospital

The Global Alliance for Genomics and Health aims to enhance sharing and interpretation of genomic and clinical information – and build on existing work, best practices, and approaches – by acting as a global clearinghouse, innovator, catalyst, and hub for data sharing efforts. The group is also focused on protecting patient and participant autonomy and privacy, and partners are working together to promote the highest standards for ethics and to ensure that participants have the choice to responsibly and securely share their genomic and clinical data.

“Since its inception, the Global Alliance has focused on the goal of achieving better data sharing and interoperability to advance science and leverage the positive impact of genomic information on human health. As part of these important meetings here at the Wellcome Trust, partners are coming together in person to actively discuss ideas and work on products that will lead to a common framework of widely used approaches to advance responsible data sharing and protect privacy.”

Mike Stratton Director of the Wellcome Trust Sanger Institute

Stemming from an initial meeting held in January 2013, last June almost 70 organisations announced their intention to form a global alliance to tackle the challenges of genomic and clinical data sharing. Since then, the inclusive effort has doubled its membership and continued to bring on world-leading organisations from a wide range of critical fields to collaborate on solutions. The Global Alliance for Genomics and Health now has 151 partners, all of whom offer important perspectives and expertise and are pooling their intellectual resources to develop and harmonise approaches to data sharing and enabling discovery. Since its initial formation, the GA4GH has brought on highly-esteemed research and health institutions with broadened international representation, partners from over 20 leading life science and information technology companies, including world leaders in cloud computing, biotechnology, and healthcare generally, and additional respected disease and patient advocacy groups.

“The Global Alliance for Genomics and Health is a key next step in the efforts that began with the Human Genome Project. We know that genomic medicine is poised to have a transformative impact, but we still face significant barriers to deploying it effectively. The work of the Global Alliance is intended to break down one of the critical barriers, catalysing effective, responsible sharing of data sets, in order to benefit science and medicine throughout the world.”

Francis S. Collins M.D., Ph.D, Director of the National Institutes of Health

To advance this important work, the Global Alliance for Genomics and Health has convened Working Groups focused on areas critical to enabling effective and responsible data sharing:

• The Genomic Data Working Group concentrates on data representation, storage, and analysis of genomic data, including working with academic and industry leaders to develop approaches that facilitate interoperability.
• The Security Working Group focuses on ensuring sensitive information is kept secure, including technology aspects of data security, user access control, and audit functions, working to adopt or develop standards for data security, privacy protection, and user/owner access control.
• The Regulatory and Ethics Working Group focuses on ethics and the legal and social implications of the Global Alliance, including harmonising approaches, policies, and standards, and developing forward-looking consent, privacy procedures, and best practices in data governance and transparency.
• The Clinical Working Group is working to identify best practices and establish linkages to phenotypic and clinical (health) informatics data. Rather than invent such standards, this Working Group is focusing on aligning genomic data activities with the ongoing international standards initiatives in clinical and health data.

Currently, GA4GH Working Groups are laying the groundwork for genomic and clinical data sharing. For example, to help facilitate the exchange of information, Genomic Data Working Group members have collaborated with leading experts in the public and private sectors to update the current industry-standard file formats for relevant data, and are developing forward-looking machine-readable interfaces (‘APIs’) to enable the exchange of variation in genome sequences across groups.

As another example, Regulatory and Ethics Working Group members have begun developing an International Code of Conduct centered on harmonising approaches around core elements of consent to ensure that patient and participant autonomy and privacy are protected when genomic and clinical data are shared. An extensive survey of existing approaches and ethics guidelines is underway, and the in-person meetings in London produced a framework outline that will be refined and expanded in collaboration with stakeholders across the world.

“The outcomes of the plenary and Working Group meetings and our continued work will help meet the challenge of genomic and clinical data sharing and enable real solutions that break down existing data sharing barriers. By bringing together leading experts across sectors and giving them the forum to collaborate on innovative solutions, the Global Alliance for Genomics and Health is able to act as a convener and catalyst for data sharing in an inclusive and effective way.”

Kathryn North Vice Chair of the GA4GH Transitional Steering Committee, Director of the Murdoch Childrens Research Institute, and the David Danks Professor of Child Health Research at the University of Melbourne