3 April 2018
Image credit: The Royal Society
This article is the first in a quarterly series of guest blog posts from GA4GH Chair Ewan Birney, in which he expounds on the most important happenings from the previous three months and plans for the future. If you’d like to get involved with any of the work mentioned below, please contact one of our Work Stream managers.
In February, GA4GH released its 2018 Strategic Roadmap laying out our plans for the first 28 deliverables of GA4GH Connect — the new standards-focused phase of our organization. I think it’s a truly impressive document with ambitious but achievable goals — these range from regulatory and ethics frameworks and best practices through to delivering harmonised, vendor-agnostic cloud execution and workflow management for genomics (and quite possibly beyond).
The Roadmap is an important milestone for GA4GH. Last year, we spent a lot of time and energy working toward a Strategic Plan, which we revealed in October. The focus in that document was on providing our vision for enabling genomic data sharing by 2022, and on restructuring our organization to ensure we are connected to and meeting the needs of the community.
With GA4GH Connect, we have organised ourselves around a matrix model. The horizontals are focused on specific technical areas — these are the GA4GH Foundational and Technical Work Streams. The verticals are the Driver Projects — 15 real world genomic data initiatives whose input will be critical for our success. Each Driver Project has embedded active contributors on the Work Streams and has therefore been instrumental in helping us develop the Roadmap, which is focused on creating specific standards and frameworks for genomic data sharing.
Since the community has been deeply involved in the writing of the Roadmap, I am confident the products of this work will be broadly relevant. For instance, the first of these deliverables, htsget, is up and running with working implementations in over five sites, and a draft scientific paper to explain and test the rationale. We expect the next set of standards to be released at the 6th Plenary Meeting in Basel Switzerland from October 3 – 5.
By making good on our promises and bringing this Roadmap to fruition, we will be doing a service for the community. Research will benefit, health care will benefit, and patients will benefit when genomic and health-related data are interoperable across national and institutional borders — in other words, when responsible data sharing for genomics has become a reality.
Notable GA4GH Publications from Q1, 2018
APPLaUD: access for patients and participants to individual level uninterpreted genomic data. Human Genomics, February.
Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes. BioRxiv, February.
Simplifying research access to genomics and health data with Library Cards. Scientific Data, March.
Key Implications of Data Sharing in Pediatric Genomics. JAMA Pediatrics, March.