Guest post: putting the "global" in the Global Alliance for Genomics and Health

5 Nov 2018

Nearly six years ago, 50 colleagues came together in a conference room in New York City to discuss the future of genomics. With delegates from eight different countries, they represented an international, interdisciplinary field of researchers, clinicians, and professionals who knew that massive amounts of data were on the horizon and that a plan was needed to make the most of it all. One thing was clear: the plan needed to be global.

Dear Colleagues,

Nearly six years ago, 50 colleagues came together in a conference room in New York City to discuss the future of genomics. With delegates from eight different countries, they represented an international, interdisciplinary field of researchers, clinicians, and professionals who knew that massive amounts of data were on the horizon and that a plan was needed to make the most of it all.

One thing was clear: the plan needed to be global. Any solution we developed had to be relevant to all nations and cultures.

The outcome of that meeting was the Global Alliance for Genomics and Health (GA4GH). Since then, GA4GH has made great strides. We’ve grown into a legitimate international standards body that is setting the course for large-scale genomic data sharing. We are maintaining the key file formats used by the international community and are rolling out a series of APIs and specifications that any nation can theoretically take up into their existing workflows to make their data interoperable with the world’s data.

In practice, however, we are quite aware that much more work is needed to achieve the first G, “Global”, in GA4GH.

We are now putting real attention toward changing that. The recent plenary meeting held in Basel, Switzerland attracted a record 425+ individuals from 25 countries. We had speakers from 12 countries and heard from national genomic data initiatives underway in nine regions (Switzerland, Finland, England, France, the United States, Australia, Japan, and across the continents of both Africa and Europe). We had a great workshop among national initiatives for sharing resources and learnings as well as instructions on how to get involved with the GA4GH Work Streams.

But most importantly, we announced an open call for new GA4GH Driver Projects, where the key focus will be on increasing our global representation. We currently have 15 of these leading genomic data initiatives “driving” the development activities of our Work Streams, helping us build tools and pilot them in real world scenarios. Collectively, they are headquartered in five separate countries, a map of which I presented in Basel:

As you can see, there’s still a lot of gray. We’re hoping to turn some of those gray bits blue in this next group of Driver Projects.

In that same presentation, I showed another map that tracks countries with a national medical genome initiative as well as countries with large scale national cohorts (>100K participants):

Ultimately, we’re hoping the two maps will start to look more and more alike; that is to say, we hope for GA4GH to truly be driven by the entire global community engaged in medical genomics. (By the way, please help us ensure the green map is correct — if you don’t see your project represented above, please let us know.)

Please review the criteria for becoming a GA4GH Driver Project and submit your application by November 30. If you don’t think your project is a good fit as a Driver project, don’t let that stop you from getting involved. Find the Work Stream that most aligns with the standards your team needs and reach out to the relevant manager to find out how you can participate. Take a look at our toolkit of frameworks and specifications (such as the recently released Beacon, WES, and refget APIs) and reach out to a Work Stream Manager to get support with your implementation.

There are 193 countries in the UN. I believe that all of them will integrate genomics into their national health systems in some way in the next decade. If our work is to impact health outcomes for patients around the world, GA4GH needs to tap into the knowledge across that entire geographic spread. We need all your help to succeed in this ambition.

Notable GA4GH Publications since July:

• Knoppers, B. (2018). Broaden human-rights focus for health data under GDPR. 189. doi:10.1038/d41586-018-05388-3
• Haendel, M., Chute, C., Robinson, P. (2018) Classification, Ontology, and Precision Medicine. New England Journal of Medicine. doi:10.1056/NEJMra1615014
• Krusche, P., Trigg, L., …, Zook, JM., Global Alliance for Genomics and Health Benchmarking Team. Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes. BioRxiv. doi:10.1101/270157
• Joly, Y., & Knoppers, B. (Eds.). (2018). Genomic Data Sharing [Special issue]. Human Genetics, 137(8).
• Dolman, L., Page, A., Babb, L., Freimuth, R. R., Arachchi, H., Bizon, C., . . . Rehm, H. L. (2018). ClinGen advancing genomic data-sharing standards as a GA4GH driver project. Human Mutation, 39(11), 1686-1689. doi:10.1002/humu.23625
• Baker, D., Knoppers, B. M., Phillips, M., Van Enckevort, D., Kaufmann, P., Lochmuller, H., & Taruscio, D. (2018). Privacy-Preserving Linkage of Genomic and Clinical Data Sets. IEEE/ACM Transactions on Computational Biology and Bioinformatics,1-1. doi:10.1109/tcbb.2018.2855125
• O. M. Dyke, S.O.M., … Knoppers, B.M., Baker, D., & Flicek, P. (2018) Registered access: authorizing data access. European Journal of Human Genetics. doi:10.1038/s41431-018-0219-y