The Global Alliance for Genomics and Health (GA4GH) has called for clinical and genomic data to be easily accessible on a shared ecosystem
In today’s Science, the GA4GH argues that a common framework of principles, protocols and interoperable technical systems are necessary to enable responsible and effective data sharing.
GA4GH counts more than 400 organisations and more than 700 individuals in its membership, which spans more than 70 countries. “These stakeholders are working together across traditional boundaries to create the common framework that will allow us to make best use of the millions of genome sequences that currently sit in siloed databases around the globe,” says Peter Goodhand, GA4GH executive director and a member of the author group.
“We are at a critical time for genomic data interpretation,” said Richard Durbin of the Wellcome Trust Sanger Institute in the UK, and co-chair of the GA4GH data working group.
“We know from the international research that led human genome sequencing that the key to understanding individual genetic differences is to compare them to data from other people.
“But the scaling up of genomics for clinical use is being carried out by organisations that do not necessarily have the traditions or mechanisms in place to carry out the necessary sharing. We must establish trusted systems to enable safe mutual clinical benefit via effective data exchange.”
To date, GA4GH said it has created a toolkit of diverse products, including the Genomics API, which allows disparate technology services to exchange genotypic and phenotypic data, as well as the Framework for Responsible Sharing of Genomic and Health Related Data, which outlines the basic principles and core elements for responsible data sharing.
GA4GH has also accelerated the development of three data sharing projects that aim to illustrate the value of sharing data in real world contexts. These consist of the Beacon Project, an open-ended approach to sharing data across the Internet, the BRCA Challenge, an international collaboration among breast cancer genetics experts and Matchmaker Exchange, a peer-to-peer network of clinicians.
In addition to outlining successes, the paper notes a variety of remaining challenges to sharing data across national and institutional boundaries.
Mike Stratton, director of the Wellcome Trust Sanger Institute, CEO of the Wellcome Genome Campus, and a member of the GA4GH strategic advisory board, said: "Private funders and national governments will need to be involved on some level to support these activities so that clinicians and scientists may access as much free, curated data as possible.
"The Sanger Institute has supported the Global Alliance since its inception as we are committed to helping researchers and clinicians access and freely share the genomic and related health data they need to transform human health."
The authorship of the publication includes Richard Durbin, Julia Wilson, Stephen Keenan, and David Lloyd of the Wellcome Trust, as well as a team of international leaders in academia, research, medicine and industry, according to the alliance.