As the Global Alliance for Genomics and Health (GA4GH) meets this week in Orlando, Fla., the organization announced a new 5-year strategic plan designed to enable responsible sharing of clinical-grade genomic data by 2022. It also introduced a genomic data retrieval specification as well as collaborations with 13 international genomic data initiatives as 2017 “Driver Projects,” including the All of Us Research Program in the United States.
GA4GH is an international, not-for-profit alliance formed to accelerate the potential of genomic medicine and research to advance human health. More than 500 GA4GH member organizations are framing policy and developing standards to enable the responsible, voluntary and secure sharing of genomic data.
The GA4GH Connect strategic plan aims to drive uptake of GA4GH standards and frameworks for genomic data discovery, analysis and interpretation.
The first robust genomics standard under GA4GH Connect, “htsget,” is a genomic data retrieval specification allowing users to download read data for subsections of the genome in which they are interested. (Currently, users must download the whole set of files in which that data reside, a slow, resource-intensive process.)
GA4GH Driver Projects will help identify, develop, and pilot data-sharing frameworks and standards in real-world settings.
Speaking at the opening of the group’s plenary meeting on Oct. 17, Peter Goodhand, president of the Ontario Institute for Cancer Research in Toronto, and GA4GH’s executive director, said the organization has 100 genomic data-sharing initiatives around the world, and that two other programs have joined the 13 Driver Projects initially announced, bringing the total to 15.
In its strategic plan, GA4GH is emphasizing its role in fostering data standards. “We are going to focus on driving things out to where they can practically be used,” Goodhand said. “We expect to see a vast expansion of really useful standards. We are not trying to be a repository or host the data. We want to help create the standards and frameworks that will enable interoperable tools and exchange of data between organizations and countries.”
The 2017 GA4GH Driver Projects:
1. All of Us Research Program
2. Australian Genomics
3. BRCA Challenge
6. ELIXIR Beacon
7. ENA / EVA / EGA
8. Genomics England
10. Matchmaker Exchange
11. Monarch Initiative
12. NCI Genomic Data Commons
13. Variant Interpretation for Cancer Consortium
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