GA4GH Announces New Strategic Plan, Vision To Create Standards

October 17, 2017

By Allison Proffitt

October 17, 2017 | At a plenary session this morning in Orlando, Florida, the Global Alliance for Genomics and Health (GA4GH) announced a new vision and five-year strategic plan: GA4GH Connect.

GA4GH Connect aims to drive uptake of GA4GH standards and frameworks for genomic data discovery, analysis, and interpretation in order to enable responsible sharing of clinical-grade genomic data by 2022.

The core of the mission remains the same, said Peter Goodhand, President of the Ontario Institute for Cancer Research in Toronto, Canada, and GA4GH Executive Director: a focus on accelerating progress in genomic research and ensuring responsible sharing of genomic data. “What has changed,” Goodhand said, “is the middle, where we’ve been more explicit about how we’re going to do that.” GA4GH will now focus on “cultivating a common framework of standards and harmonized approaches” for achieving the goals of progress and shared data.

By 2022, more than 80% of whole genomes and exomes will be sequenced within the healthcare system, predicted Ewan Birney, Director of the European Bioinformatics Institute (EMBL-EBI) in Cambridge, UK and Chair of the GA4GH Steering Committee. It will be a dramatic shift in how we think about and use genomic data, and the Global Alliance sees its role as evolving to develop the standards and framework that will enable the future of genomic research.

Birney, Goodhand, and Jessica Vamathevan published a paper on bioRxiv yesterday (doi: predicting the future of genomics. In addition to the shift to primarily healthcare sequencing, the authors estimated at least 60 million human genome sequences by 2022, driven by rare disease and cancer, an estimate that Birney said were made with “really conservative assumptions.”

“The reason why these genomes are being sequenced is because it’s effective in clinical healthcare,” Birney emphasized. “It’s become very obvious that sequencing a child or a person’s genome with a suspected rare disease will profoundly change their lives and their family’s lives as well.”

Even if 60 million is a conservative effort, it will still be transformative. In the bioRxiv story posted yesterday, Birney set the number at 10 million diverse humans. “We have come up with a series of reasons why studying more than 10 million humans will give us transformative views into research,” he said today. “This is a huge opportunity for researchers as well as a responsibility for making clinical healthcare work.”

The reasons—statistical power, better understanding of low-frequency alleles and penetrance, and deeper insight into heterogeneous diseases like cancer—all rely on more and more data. And GA4GH expects the majority of genomic data in the next five years will be collected in a healthcare setting in the future. Birney predicted a “massive increase in spending” among healthcare systems as these data are sequenced and stored. But that isn’t to say research won’t have its role. “The world of clinical genomic data research and clinical practice will just become much, much more joined. It will become a porous system,” Birney said.

But with this vision comes practical challenges, and these challenges are ones GA4GH hopes to tackle.

“Healthcare starts from a very different place [than research],” Birney said. “It’s one of the most regulated industries in the world. It’s one of the most nationally-legislative industries in the world. It’s run nearly always in the national language of the country.”

Genomics research and clinical care must be done “in a way which is consistent with the ethical approaches in many different countries,” Birney said. He particularly highlighted the work done by Bartha Knoppers, a member of the GA4GH Steering Committee and Work Stream Lead for Regulatory and Ethics, to, “help provide a framework where we can engage all of the countries of the world.”

The solution, Birney said, is federation of data. “We’ve made great progress across the world by aggregating data for research. And we will continue to do that, I think in the future… But for healthcare data we have to embrace federation. We can not ask countries or healthcare systems to allow their data to be moved across the world just for research. It would be impractical as well as—in most cases—illegal.”

The GA4GH Matrix

As part of the practical steps forward, GA4GH will increasingly focus on deliverables and driving solutions out to where they can be practically used, said Goodhand. “We’ve been doing great things for the last three to four years,” he said. “This is just the starting point. What we expect to see a year from now, two years from now, is a vast expansion of really useful products that can be used widely, and standards that can be used widely.”

Originally GA4GH consisted of four working groups and several demonstrations projects like the Beacon Project and Matchmaker Exchange, Goodhand explained. Now, the organization plans to work with real world, clinical and research projects across six technical work streams and two foundational work streams. All of the work will be done with a commitment to partner engagement, Goodhand said: commitment within the matrix of projects and beyond.

“At last count, there were about 100 genomic data sharing initiatives around the world. We may be working with 15, but our intent is to create standards that are relevant for the broader community.”

The 15 projects Goodhand referred to are Driver Projects in which GA4GH has entered a formal collaboration to help identify, develop, and pilot data sharing frameworks and standards in real world settings. All of the projects are international in scope, and include both research and clinical projects. The goal of GA4GH’s work with each Driver Project is to, “enable interoperable tools for exchange of data, advance research, and clinical management most importantly for the benefit of patients,” Goodhand said.

GA4GH wants to enable an ecosystem of data stewards, he said, who uphold their responsibility not just to protect the data they own, but to use it.

2017 GA4GH Driver Projects

  • All of Us Research Program
  • Australian Genomics
  • BRCA Challenge
  • CanDIG
  • ClinGen
  • ELIXIR Beacon
  • Genomics England
  • Human Cell Atlas
  • Matchmaker Exchange
  • Monarch Initiative
  • NCI Genomic Data Commons
  • TOPMed
  • Variant Interpretation for Cancer Consortium