Global Alliance for Genomics & Health Argues for Federated Data Ecosystem
By Bio-IT World Staff
June 9, 2016 | In a perspective article in the June 10 issue of Science (DOI: 10.1126/science.aaf6162), 31 authors from The Global Alliance for Genomics and Health challenged the genomics community to adopt a federated ecosystem for sharing genomic and clinical data.
“Current practices in research and medicine hinder the sharing of data in ways that tangibly recognize an individual’s contribution,” the authors observe. “If we stay this course, the likely outcome will be an assortment of balkanized systems akin to those developed for U.S. electronic health records, which, although designed to advance human health by sharing clinical data across institutions, have by all measures fallen short of that goal because of a lack of interoperability.”
The Global Alliance for Genomics & Health (GA4GH) was formed to help accelerate the potential of genomic medicine to advance human health. It brings together over 400 leading institutions working in healthcare, research, disease advocacy, life science, and information technology to create a common framework of harmonized approaches to enable the responsible, voluntary, and secure sharing of genomic and clinical data.
In the commentary published today, the authors highlighted the strengths of a federated data ecosystem, which would allow, “legal data control to remain with the originating jurisdiction.” A working group within GA4GH has already laid out a framework document that provides basic principles and core elements for responsible data sharing, and has released an API to facilitate communication.
The API and framework document are being used in the Beacon Project, which is developing technical specifications for sharing variant data sets; BRCA Exchange, a Web portal that provides a simple interface for patients, clinicians, and researcher to access curated, expert interpretations of BRCA1/2 variants; and Matchmaker Exchange, a collaborative effort to link rare disease patients and researchers.
These examples show that a federated model can work, the authors contend. The federated model has allowed all three projects to overcome the inefficiency, expense, and security risks of transferring datasets to central repositories, often across international boundaries.
There are still challenges. Even through a federated data ecosystem does offer some added security, privacy is still a concern. “Innovative policy and regulatory measures, as well as technological solutions, are needed to securely handle individual genomic and clinical data,” the authors state.
Scalability and costs are also concerns. “Government agencies may need to support some features of the ecosystem (e.g., curation) so that clinicians and patients have access to as much free, curated data as possible,” the authors suggest.
Finally, the authors call for global engagement, “from a social justice and medical perspective,” to link efforts across the world.
“Technology and economic incentives can make it possible for an international, federated network of genomic and clinical data to become a network for learning that will illuminate causes of disease and potential interventions for prevention and treatment,” the authors said.