Benefits of cross-border access to human genomes at scale for research and healthcare

Abstract Genomics data will soon be routinely generated and integrated into national healthcare systems. To maximise the potential of genomic medicine, data should be accessible for research where possible. This is the remit of ELIXIR, an intergovernmental organisation that brings together life science resources from across Europe. Innovative solutions are needed to ensure the validated research findings for disease or preventative medicine are then integrated into healthcare. To tackle this, the 1+MG initiative, a joint initiative of 25 EU countries, the UK, and Norway, aims to enable secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making. In the design and scale-up phase (B1MG project), recommendations and guidelines to advance towards the deployment of personalised medicine at a European scale have been produced, adopted by 1+MG and developed into a 1+MG framework. This includes guidance on data governance, standards, quality and infrastructure, recommendations on how to approach citizen engagement and a tool for countries to self-assess implementation into healthcare. The European Genomic Data Infrastructure (GDI) project supports the scale-up and sustainability phase of the 1+MG initiative, to deploy infrastructure across 24 countries to support the overall ambition. Recommendations are being used to promote governance and technical interoperability across European initiatives including the European Health Data Space (EHDS), and European Cancer Image Initiative (EUCAIM). The 1+MG will be established as a European Data Infrastructure Consortia in 2025 and will act as an Authorised Participant in the EHDS providing access to a permanent high-quality federated data collection of genomic and health data that will accelerate research, innovation and policymaking facilitating the deployment of genomic medicine across Europe.