Creating a Global Alliance for Sharing of Genomic and Clinical Data

David Altshuler

David Altshuler is being honored as a Champion of Change for the vision he has demonstrated and for his commitment to open science.

Working together with over 70 leading healthcare, research, and disease advocacy organizations (involving collaborators in over 40 countries), my colleagues and I have begun to form a global alliance to enable responsible sharing of genomic and clinical data.

We are motivated by the view that a new era is opening in the science of genomics and its application to medicine.  The cost of genome sequencing has recently fallen one million fold.  Just a few years ago, only a handful of human genomes had been sequenced; today there are many tens of thousands of sequenced genomes, and it is widely expected that in the coming years millions of people will choose to have their genome sequenced for research, clinical, or personal use. The public interest will be best served if we work together to develop and promulgate open standards (both technical and regulatory) that make it possible to effectively and responsibly share and interpret this wealth of information.

The ability to collect and analyze large amounts of genomic and clinical data presents a tremendous opportunity to learn about underlying causes of cancer, inherited and infectious diseases, and individual responses to drugs.  Moreover, for patients with cancer, and rare inherited diseases, genome sequencing is already becoming a powerful tool for diagnosis and decisions about therapy.  

We realize that discussions about sharing large amounts of personal data naturally raise important questions about ethics and privacy. Accordingly, we have committed to work together to study and share perspectives on ethics, regulation and privacy.  We are committed to the principle that each individual has the right to decide whether and how broadly to share their personal health information. Our technical and regulatory solutions must support and enable these personal decisions.

Our project was initiated in late January 2013, when 50 colleagues from eight countries met to discuss the current challenges and opportunities in genomic research and medicine, and how the discipline could work together to foster progress. The group concluded that the greatest need was for a common framework of open standards to enable and oversee effective, responsible, and interpretable sharing of genomic and clinical data. While many groups have been working to address these issues, we envisioned a trusted global partnership to bring this vision to reality.  Over the following months, we wrote a white paper describing our thinking about the situation and the future (available for download.) 

On June 5th, we announced our first steps toward this alliance.  Following the circulation of this white paper, 73 organizations from six continents agreed to work together to create a non-profit global alliance dedicated to enabling the responsible sharing of genomic and clinical data. Each organization has signed a non-binding Letter of Intent, pledging to work together to create a not-for-profit, inclusive, public/private, international, non-governmental organization (modeled on the World Wide Web Consortium, W3C) that will develop this common framework.

We are committed to a number of core principles, including respect for the data sharing choices of participants, transparency and accountability of governance, and furthering innovation by supporting open technology standards.  This foundation is intended to catalyze interoperable information technology platforms that embody these principles and accelerate progress in biomedicine.  Participants may put all or some of their data into these platforms, but the common vision is to provide trusted paths to sharing and learning from data regardless of where it is stored.

To date, the Letter of Intent has been signed by healthcare providers, disease advocacy organizations, research funders, and biomedical research institutions. We are excited to work with other organizations – for-profit as well as not-for-profit – to form the alliance and build upon ongoing efforts. We are confident that, working together as partners, we will respond to challenges and enable advances more effectively than if we each worked alone.

David Altshuler is Deputy Director and Chief Academic Officer at the Broad Institute of Harvard and MIT, professor of genetics and of medicine at Massachusetts General Hospital and Harvard Medical School, and an Adjunct Professor of Biology at MIT. 

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