ELIXIR-CONVERGE D7.5 Retrospective assessment of national use-cases, identification of gaps, and recommendations for future Federated EGA roadmap

This report provides an overview of assessing national use-cases, identifying gaps, and providing recommendations for the future of the Federated European Genome-phenome Archive (FEGA). The assessment focuses on facilitating the adoption of FEGA by ELIXIR National Nodes and 1+MG National Mirror Groups. It presents insights gained from engagement with twelve ELIXIR CONVERGE WP7 partner nodes, twelve nodes involved in other European data sharing initiatives like the European Genome Data Infrastructure and Beyond 1 Million Genomes project, and seven nodes not currently part of these initiatives, including five nodes outside of Europe.

Several approaches were taken to address the objectives, including national node use case surveys, individual node check-in meetings, self-assessments against the FEGA Maturity Model, and outreach activities. The node use case surveys collected information from 11 completed surveys, highlighting common data types and user profiles relevant to FEGA. The individual node check-in meetings provided a platform for discussions between Central EGA and ten nodes, covering FEGA node status, challenges, and future plans. Aggregated results from these meetings are included in the report. Nodes were also encouraged to perform self-assessments against the FEGA Maturity Model, and additional feedback was provided through ad hoc meetings. Various outreach activities were coordinated to understand national use cases, identify gaps, and compile recommendations for future FEGA development. These activities were conducted in collaboration with CONVERGE WP7 partners, CONVERGE WP2, and external partners and projects.

The report concludes that FEGA is currently supporting the most common use cases in terms of data types and users and has captured the most common challenges. The challenges identified align with the domains in the FEGA Maturity Model, indicating that the model provides a comprehensive framework for meeting these challenges to support node development. Unique use cases and challenges identified by nodes present opportunities for FEGA to fill gaps, such as developing best practices for linking to data in other resources, forming partnerships with biobanking organisations, and promoting the value of FEGA to local governments and national healthcare systems. Overall, the report provides valuable insights into the status of FEGA adoption, identifies gaps and challenges, and offers recommendations for the future roadmap. These findings can inform the further development and expansion of FEGA to support the discovery and access of sensitive human omics and associated data for secondary use.