April Connect 2025

1 Apr 2025

The GA4GH April Connect 2025 Meeting brought together members of the GA4GH community for four days of collaboration, technical advancement, and strategic reflection. 150 attendees convened at the Broad Institute of MIT and Harvard, and more than 400 participants from around the world joined virtually. The meeting focused on driving actionable outcomes and advancing the GA4GH mission to ensure standards are effectively implemented, widely adopted, and make a meaningful impact in real-world settings. The tone throughout the meeting was pragmatic and forward-looking, and focused on closing the gap between aspiration and action.

Executive summary

Sessions explored challenges across the GA4GH product lifecycle — from onboarding and documentation to federated infrastructure and policy harmonisation. Multiple hackathons and working groups convened to refine standards like the Variation Representation Specification (VRS), refget, and htsget, while others focused on ways to leverage them,  such as schemas, registries, and tooling to support implementation at scale. Policy-focused sessions tackled consent, data access, governance frameworks, and regulatory gaps, underscoring the need to align technical and ethical infrastructure. Communities using GA4GH standards — ranging from rare disease to prenatal genomics, pathogens, and neuroscience — shared both successes and barriers, reinforcing the need for tailored implementation support, responsive governance, and cross-Work-Stream collaboration.

Strategic sessions also tackled big-picture questions. What does it take to build trust in federated data sharing systems? How can GA4GH better support low- and middle-income regions? What role should GA4GH play in the responsible adoption of generative AI for health? Answers to these questions centered on adaptability, inclusivity, and knowledge reconciliation — highlighting the importance of real-world partnerships, strong infrastructure, and policy frameworks that account for both ethical nuance and technical complexity. At the same time, participants emphasised that many of these challenges span the entire healthcare ecosystem — not just genomics — and called on GA4GH to focus its contributions where its expertise and standards can make a unique and complementary impact.

Product-focused sessions unveiled exciting progress: Beacon v2.5 is expanding support for metadata and clinical integration; VRS and Beacon are aligning for more expressive variant discovery; and the Cloud Work Stream proposed new standards for trust and federated orchestration. Sessions on compliance, data access modelling, and consent continued to emphasise the importance of harmonised governance — particularly in light of international data movement and emerging research consortia like the Human Pangenome Project.

Education and engagement remained recurring themes. GA4GH’s evolving global engagement strategy highlighted work to expand educational materials, regional representation, and multilingual resources. The relaunch of the GA4GH Implementation Forum (GIF) further reinforced the move from standards development to real-world problem solving. Communities called for clearer documentation, more accessible tooling, and co-designed implementation pilots that reflect their needs, priorities, and constraints.

In sum, the week’s discussions underscored a shared commitment to GA4GH’s mission — not only to develop consensus-based standards, but to foster a global community that is advancing the responsible, interoperable, and impactful sharing of genomic data. Across sessions, participants returned to a common goal: transforming technical progress into real-world benefit for science, medicine, and society.