GA4GH refreshes its strategic plan

24 May 2023

The Global Alliance for Genomics and Health (GA4GH) has released an updated version of its strategic plan, with concrete actions and structural updates to support the community’s three key priorities: (i) improve interoperability and alignment with external standards and between GA4GH products; (ii) improve implementation support for technical standards; and (iii) align more closely with healthcare and clinical standards.

The refreshed strategy was released alongside a major redesign of the GA4GH website, www.ga4gh.org, to effectively communicate the organisational updates.

“We hope these strategic updates, which are really a formalisation of work that’s been underway for some time, will help members of the broader community who are not yet active in GA4GH to find their place and get involved,” said Angela Page, who led the Strategic Refresh process and serves as director of strategy and engagement for GA4GH from her post at the Broad Institute of MIT and Harvard.

In 2022, through a written survey and a series of brainstorming sessions, GA4GH received more than 300 pieces of feedback from more than 120 individual community members. The most recurrent themes in this feedback were recommendations to create a forum for sharing experiences implementing GA4GH products, work with collaborative projects to identify and advance use cases, and ensure clinical relevance of the GA4GH toolkit. 

To address these concerns, GA4GH has reintroduced its National Initiatives Forum (NIF) alongside a series of Communities of Interest focused on specific domain areas. NIF brings together large scale, government-funded strategic initiatives in genomic data, often focused on translating research into a national clinical care setting. The goal of this effort is to provide a space for aligned projects to share experiences implementing GA4GH standards, develop pilot projects for global data sharing using large-scale cohorts, and identify common needs for standards across initiatives. The Communities of Interest provide a space for the broader genomics community to discuss challenges and opportunities in specific domain areas, such as rare disease, cancer, and infectious disease. 

“The National Initiatives Forum is focused on GA4GH implementation and on learning from others,” said Kathryn North, co-vice-chair of the GA4GH and lead of Australian Genomics. “As national-scale genomics initiatives come online around the globe, we need to be sharing resources, knowledge, and experiences, rather than reinventing the wheel each time and trying to go-it-alone. We have such a great opportunity to do this work better when we commit to doing it together.” 

The GA4GH Implementation Forum (GIF, pronounced with a hard “g” as in “game”) was recently introduced as a mechanism to optimise technical standards development through real-world use. GIF replaces the grassroots Federated Analysis Systems Project (FASP) and aims to extend that group’s efforts in advancing an ecosystem of loosely federated genomic data initiatives, made interoperable through the technology solutions provided by GA4GH.  

“It’s now vital that we put GA4GH standards into practice. The GA4GH Implementation Forum will help accelerate this effort through global collaboration, leading to even more interoperable systems,” said Ewan Birney, chair of GA4GH, deputy director of the European Molecular Biology Lab (EMBL), and director of EMBL’s European Bioinformatics Institute.

Alongside NIF and GIF, GA4GH has also made updates to its Driver Project (DP) programme. Launched in 2017, this effort brings in real world-initiatives that steward genomic data to help identify, develop, and pilot standards and policy frameworks in the real world. GA4GH has now added more structure to the programme, including the introduction of DP term limits, a regular application cycle to welcome new voices, and a deliberate focus on adding broader clinical and geographic representation.

“Driver Projects have helped ground our GA4GH standards in real-world needs. We are excited to bring on new projects, initiatives, and use cases from around the globe to uncover new opportunities and perspectives,” said Heidi Rehm, co-vice-chair of GA4GH, faculty member at Massachusetts General Hospital, and institute member at the Broad Institute of MIT and Harvard. In 2020, Rehm also co-led a critical gap analysis alongside Andrew Morris, director of HDR UK, which led to the release of the three key GA4GH priorities mentioned earlier.

As part of the new strategic plan, GA4GH has also rolled out more robust guidelines for Strategic Partners. These guidelines offer a definition and process for forging structured relationships between GA4GH and groups that don’t fit the typical Driver Project mould — initiatives that focus on interoperability and share the GA4GH mission to expand access to genomic knowledge. Currently, GA4GH has one formal Strategic Partnership with ELIXIR and is in discussions with several other aligned organisations active in the areas of infectious disease, global genomic medicine, and international scientific collaboration.

“By broadening our engagement within the international genomics and health community, we aim to better understand and serve the needs of global communities,” said Peter Goodhand, CEO of GA4GH, who is based at the Ontario Institute for Cancer Research. “We need the broadest possible participation to ensure we build tools that will benefit all of humanity.”

The refreshed strategic plan also provides more information around the roles and responsibilities of different members of the community (including staff and contributors); the ways GA4GH is working to strengthen technical interoperability within its product suite as well as with other community standards developed outside of GA4GH; and more. 

“We are excited at the opportunity GA4GH presents to the international genomics community,” said Nicola Mulder, who sits on the GA4GH Inc. Board of Directors and is professor and head of computational biology at the University of Cape Town. Mulder also serves as principal investigator of H3ABioNet, a pan-African bioinformatics network for H3Africa, which is a GA4GH Driver Project.

“The updates introduced by the GA4GH Strategic Refresh represent a concerted effort to meet the needs not just of genomics researchers and clinicians around the world, including the global south — but also of the humans that will benefit most,” said Mulder.