Providing access to genomic data to improve research, policy making and healthcare across Europe
The Genomic Data Infrastructure (GDI) project is enabling access to genomic and related phenotypic and clinical data across Europe. It is doing this by establishing a federated, sustainable and secure infrastructure to access the data. It builds on the outputs of the Beyond 1 Million Genomes (B1MG) project and is realising the ambition of the 1+Million Genomes (1+MG) initiative.
The data
The project involves human genomic and related phenotypic and clinical data held in databases across Europe. The project will focus on the Genome of Europe (a network of national reference genome collections), and cancer and infectious disease use cases. “Real” synthetic data will be used for validation before data are available through the infrastructure.
Who will access it?
Controlled access will be given to approved clinicians, scientists in the public and private sector and healthcare policy makers. Non-sensitive and aggregated data will be openly discoverable through the European Genome Dashboard and a federated query system. This system will support genotypic and phenotypic queries in natural language.
What are the benefits?
Insights from the data will support improved clinical diagnostics, treatments and predictive medicine for European citizens. The project will also lead to better public health measures to benefit citizens, healthcare systems and the economy.
Who is running it?
The GDI project brings together experts in life science, medicine, computer science, ethics and law from 54 project partners across 20 countries and two infrastructure organisations. They will ensure access to datasets is secure, ethical and compliant with European and national law.
Realising a vision for European healthcare
The vision
In 2018, the 1+Million Genomes (1+MG) initiative was launched to create a European data infrastructure for genomic data. This would implement common national rules enabling federated data access. Twenty four European countries have signed the declaration. The goal of the initiative is to enable secure access to genomic and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making.
Designing and testing
In 2020, the Beyond 1 Million Genomes (B1MG) project began. The project is developing guidelines on how to implement the 1+MG initiative. Amongst its outputs are blueprints and recommendations for building a federated network of genomic data (the 1+MG Trust Framework). It is also producing tools to help countries self assess their readiness to implement genomics into healthcare systems.
Scaling up and sustaining
In 2022, the GDI project began. This €40M project is building on the preparatory work of 1+MG working groups, the B1MG project and investments of EU countries. It is creating and deploying the technical capacity for accessing genomic data. In this way, it will implement the vision of the 1+MG initiative.
How the project is organised
The European Genomic Data Infrastructure (GDI) project is structured into three pillars of work and a coordination work package.
Coordination and support
The coordination and support work package coordinates the project, supports the consortium and the 1+MG initiative, monitors progress and liaises with other European and global initiatives.
Pillar I
Long-term sustainability
Pillar I brings together country representatives to agree on a long-term governance model, a legal framework and a business model for the infrastructure. These will ensure the infrastructure continues to operate after the end of the GDI project.
Pillar II
Infrastructure deployment
Pillar II implements the infrastructure by increasing the interoperability of European data resources. It ensures these resources can operate as part of the 1+MG infrastructure and are ready to access once the required agreements are in place. “Real” synthetic data will be used to demonstrate and validate the infrastructure, and data provided from EU projects under their current agreements.
Pillar III
Use cases
Pillar III guides the implementation of the project through key use cases (for example, the Genome of Europe, cancer data and infectious disease data). It works with users like clinicians, researchers and innovators to identify solutions that could form part of the infrastructure.
Who is involved
| Country | Institute |
|---|---|
| Belgium |
Interuniversity Microelectronics Centre (IMEC)
Sciensano
VIB
|
| Bulgaria |
Medical University of Sofia, Bulgaria
Ministry of Education and Science of Bulgaria
|
| Croatia |
Ruđer Bošković Institute
|
| Czech Republic |
Masaryk University
|
| Denmark |
Danish National Genome Center
|
| Estonia |
Sotsiaalministeerium (Ministry of Social Affairs, Estonia)
University of Tartu, Institute of Computer Science
|
| Finland |
CSC - IT Center for Science Ltd
Finnish Institute for Health and Welfare
Ministry of Social Affairs and Health, Finland
University of Helsinki
|
| France |
Institut Français de Bioinformatique
Institut national de la santé et de la recherche médicale
(Inserm)
|
| Germany |
Eberhard Karls University of Tübingen (University of Tübingen)
Empirica Gesellschaft für Kommunikations und
Technologieforschung
MBH
Federal Ministry of Research and Education, Germany
Federal Ministry of Health, Germany
German Cancer Research Center
Universitätsklinikum Aachen
|
| Ireland |
Royal College of Surgeons in Ireland
The Health Research Board
|
| Italy |
Consiglio Nazionale delle Ricerche
Istituto Italiano di Tecnologia
Università Cattolica del Sacro Cuore
Vita-Salute San Raffaele University
|
| Latvia |
Latvian Biomedical Research and Study Centre
Ministry of Health of the Republic of Latvia
|
| Lithuania |
Lietuvos sveikatos mokslų universiteto ligoninė Kauno klinikos
National Cancer Institute
Vilnius University Hospital Santaros Klinikos
|
| Luxembourg |
Ministry for Higher Education and Research, Luxembourg
University of Luxembourg
|
| The Netherlands |
Erasmus University Medical Center Rotterdam
Netherlands Cancer Institute
Stichting Health-RI
UMCG
|
| Norway |
Norwegian Directorate of Health
Universitetet i Oslo
|
| Portugal |
Associação BIP4DAB
Instituto Nacional de Saúde Doutor Ricardo Jorge
Instituto Superior Técnico
Universidade de Aveiro
|
| Slovenia |
University of Ljubljana
University of Maribor
|
| Spain |
Barcelona Supercomputing Center
Centro nacional de análisis genómico - Centro de Regulación
Genómica
Instituto de Salud Carlos III
|
| Sweden |
Uppsala University
Vinnova, the Swedish Agency for Innovation Systems
|
| International organisations |
BBMRI-ERIC
EMBL (ELIXIR and EMBL-EBI)
|