Important steps made towards establishing a European genomic data infrastructure

On 20 and 21 November, the European Genomic Data Infrastructure (GDI) project held its General Assembly in Lisbon, Portugal. Major achievements were presented as the project reached the halfway point in its implementation.

The GDI project started in November 2022 and is co-funded by the Digital Europe Programme (with a total budget of €40 million), with the aim of achieving the 1+Million Genomes initiative ambition of creating a cross-border data infrastructure by October 2026. Such infrastructure will enable secure access to genomic and associated clinical data across Europe. This will support biomedical research, the roll out of personalised healthcare and boost evidence-based health policy. The project involves the participation of 70 institutes from 24 European countries and two international organisations.

On 20 and 21 November, the project held its General Assembly in Lisbon, Portugal. During this meeting the major achievements reached were presented, including a demonstration of systems allowing cross-border search functions, access to data and federated analysis. The event was also an opportunity to plan for the final two years of the project.

GDI has also been developing its community of stakeholders. Earlier in the autumn, on 10 October, the second GDI Stakeholder Forum focusing on patient and citizen engagement for the 1+Million Genomes was organised. Over 140 participants came together to exchange on how to improve trust, ensure transparency and increase inclusiveness.

As the second year of the GDI project came to an end, important deliverables and milestones have been reached. These include:

• Understanding the data inclusion requirements that countries need to meet in the 1+MG infrastructure, while taking into account different ethical and legal landscapes.
• The guidelines for creating a national 1+MG communications and outreach strategy for citizens & healthcare professionals.
• Lastly, the release of video demonstrators showing how genomic data can be accessed and analysed via the 1+MG technical infrastructure in a federated way. Such access was demonstrated using synthetic (non-personal) data for a cancer use case (access to genomic and clinical colorectal cancer data) and for two infectious diseases use cases (severe COVID-19: common risk variants and monogenic causes). The query works in a federated network of secure environments in Finland, Portugal, Spain and Sweden. Additional countries will be included shortly. Switching to processing real rather than synthetic data will be the last step, once the necessary legal requirements are met.

These are a few of the building blocks necessary for GDI to achieve its goals in making data accessible for medical and genomic research, clinical reference, and evidence-based policy development for public health measures. Ultimately, personalised approaches to medicine drawing from genomic data will bring many concrete benefits to European citizens. These include understanding of disease prevalence - particularly in rare diseases and cancer - improved clinical diagnostics and treatment.

Read more about the European Genomic Data Infrastructure (GDI) project.

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