GA4GH Perspective In Science

GA4GH Perspective In Science

Posted: Jun 9, 2016

Dear Colleagues,

We are pleased to refer you to a paper released today in Science entitled “A federated data ecosystem for sharing genomic and clinical information.” The perspective article, authored by a diverse group of GA4GH members represents the first formal publication of the Alliance and argues that a common framework of principles, protocols, and interoperable technical systems is necessary to enable responsible and effective data sharing. Below we describe the paper in more detail and point you to some exciting updates about our recent work and upcoming Plenary Meeting. We hope to see you there! 

With more than 400 organizations and more than 700 individuals in our membership, GA4GH has made considerable progress in the 2.5 years since its launch. You have come together across traditional boundaries to create the common framework that will allow us to make best use of the millions of genome sequences currently sitting in siloed databases around the globe. We are deeply grateful for your tireless efforts.

As many of you know, we now have the beginnings of a toolkit of diverse products to help fast forward data sharing initiatives, including the Genomics API, which allows disparate technology services to exchange genotypic and phenotypic data, and the Framework for Responsible Sharing of Genomic and Health-Related Data, which outlines the basic principles and core elements for responsible data sharing.

These and dozens of other products are being put to use in our three data sharing Demonstration Projects: Beacon Project, an open-ended approach to data discovery across the Internet; BRCA Challenge, an international collaboration among germline cancer experts which recently launched its first tool, the BRCA Exchange; and Matchmaker Exchange, a peer-to-peer network of clinicians and researchers working in rare disease. A fourth demonstration project on somatic cancer is also in development.

Today’s perspective article discusses these accomplishments in detail, as well as a few remaining challenges. For instance, we are still trying to identify the best solutions to securing data access without limiting the scope of information that can be shared. We are working to create tools that are flexible enough to be readily implemented across a variety of different knowledge domains. And we’re actively searching for a sustainable funding approach to support all of these efforts.

We encourage you to get involved in these and the many other discussions happening within our four Working Groups and 50+ Task Teams by reaching out to the GA4GH staff. Our key objectives for the next year include bringing GA4GH tools and solutions into real-world practice and increasing visibility of GA4GH work to establish our group as a thought leader in genomics — help us achieve these ambitious goals by getting involved today! 

Learn what our Working Groups have been up to in one of our recent mailings:

....or join us in Vancouver, BC in October for our fourth Plenary Meeting:
When: Oct 16-18, 2016
Where: Vancouver Marriott Pinnacle Hotel
What: At the 4th Plenary Meeting, GA4GH membership will convene to discuss rapid uptake of GA4GH tools and solutions in real-world settings. You can register here.

Peter Goodhand
GA4GH Executive Director