GA4GH Releases 2018 Strategic Roadmap

By Benjamin Ross

February 26, 2018 | The Global Alliance for Genomics and Health (GA4GH) has announced their Strategic Roadmap, which includes a series of more than two dozen deliverables to be launched in 2018 and developed over the next one to three years. The non-profit organization hopes the plan will lay the groundwork for real-world genomic data sharing by 2022.

The GA4GH 2018 Strategic Roadmap includes the first 28 standards and frameworks to be developed under GA4GH Connect, the organization’s five-year strategic plan focused on aligning with the key needs of the international genomic data community.

Peter Goodhand, GA4GH’s Chief Executive Officer and President of the Ontario Institute for Cancer Research, told Bio-IT World that GA4GH established eight Work Streams in accordance with GA4GH Connect, six of which were technical (Clinical & Phenotypic Data Capture, Cloud, etc.) and two were foundational (Data Security and Regulatory & Ethics). An emphasis of these Work Streams was partner engagement with the organization’s 15 Driver Projects, a series of international clinical and research initiatives that are helping guide the organization’s development work and ensure relevancy within the community.

Goodhand says the Strategic Roadmap approaches the goals of GA4GH Connect on a more granular level. “[We’re starting to] create linkages between the Driver Projects and the Work Streams at a more product-delivery level. That’s the essence of the Roadmap: the details are drilled down.”

Such details include deliverables like API and reference implementation for GA4GH’s Beacon Network that supports secured access queries; task execution services (TES), as part of their Cloud Work Stream; and incorporating researcher identity vocabulary developed by the Data Use & Researcher Identities Work Stream.

Goodhand is quick to point to the organization’s Beacon Network for its use of FAIR principles. “What we realized is that if we can put in the appropriate level of access and control in a way people can feel comfortable sharing more of their data, then we can use these discovery tools [like Beacon] to find more information,” he said.

This Strategic Roadmap is the first annual plan to be released by the organization, less than two years after appointing Ewan Birney, Director of the European Bioinformatics Institute (EMBL-EBI), as Chair of GA4GH. Birney says this was one of the reasons he was chosen for this role.

“They all knew what was going to happen when I became Chair,” Birney said when talking with Bio-IT World. “[At the time,] GA4GH was a slightly meandering organization that had a lot of exploratory work and a lot of interesting work, but also wasn’t very directive and cohesive. I was going to make it more concrete.”

Goodhand describes the early years of the organization, which he co-founded 2013, as a “big bang of energy and content,” but it was difficult to focus on specific projects when everything was happening at once.

“We took time [before releasing GA4GH Connect and the Strategic Roadmap] to step back, look forward, and get into the right projects,” Goodhand said. “We wanted to be deliberate.”

Birney says the organization wants the Strategic Roadmap to be a living document, with updates and similar documents planned as the genomic landscape continues to grow.

“We’re estimating, quite conservatively, that we’ll end up at half a billion genomes by 2030 being determined by the healthcare systems around the world,” says Birney. “We need to have a solid backbone to how we do this if we want this to end up in every nation on the planet. That’s quite an ambitious statement, but you’ve got to start somewhere,” he laughed.

Healthcare Shifts To Genomics

The top-level view of GA4GH is that there is major shift toward genomics becoming useful in healthcare, Birney says, and he believes healthcare will pay for the genomes for hundreds of millions of people around the world.

“Healthcare is sequencing people’s genomes and doing other molecular measurements on humans for the purposes of healthcare, not just for the purposes of research,” says Birney. Previously, if you did research on humans and look at people’s genomes, you had to fund that component yourself, he says. Now, the involvement of healthcare in people’s genome sequencing allows organizations like GA4GH to leverage their priorities not just for fundamental biology, but also for healthcare for millions of people.

The GA4GH hopes the Strategic Roadmap, including its standards and deliverables, will increase the ability to share data across international and institutional boundaries.

Goodhand says the need for genomic knowledge represents a shift in healthcare from evidence-based to evidence-generating solutions.

“In the practice of healthcare, if you’re learning, if you use the data, we can learn things to take back to the research environment,” Goodhand says. “I think if we address learning health systems, or evidence-generating health, then it’s a different world. I think we’re seeing movement in that direction as we build on the legacy from the world of genomics.”