BSC participates in a new European initiative to advance personalised medicine

21 September 2022

The Spanish node’s data will be hosted by the MareNostrum supercomputer located at BSC, which will be a key component of the Precision Medicine strategy in the Spanish National Health System.

Research centres across Europe have today established the Federated European Genome-Phenome Archive (FEGA), a digital infrastructure that will facilitate access to genomic and health data generated by scientific projects in five countries – Spain, Germany, Sweden, Finland and Norway

The breakthrough marks a new era for genomics research, with the aim of accelerating drug development and new personalized treatments. It will also facilitate improvements in diagnostics, the development of new prevention strategies and a more efficient use of economic resources.

The Centre for Genomic Regulation (CRG) in Barcelona and the European Bioinformatics Institute (EMBL-EBI) in Cambridge will control access to the data. The Spanish node’s data will be hosted by the MareNostrum supercomputer located at the Barcelona Supercomputing Center – National Supercomputing Center (BSC-CNS), which will be a key component of the Precision Medicine strategy in the Spanish National Health System

FEGA is an evolution of the European Genome-Phenome Archive (EGA), supported by the Spanish Institute of Bioinformatics of the Carlos III Health Institute, a local ELIXIR node, and the ”la Caixa” Foundation

 

Research institutes from five European countries have committed to improving the way researchers discover and access sensitive human data across national borders to enable more efficient health research. Institutes from Finland, Germany, Norway, Spain, and Sweden have become the first five nodes of the Federated European Genome-phenome Archive (Federated EGA), one of the largest international networks for discovery and access of sensitive human data. It builds upon the EGA, jointly managed by EMBL’s European Bioinformatics Institute (EMBL-EBI) in the UK and the Centre for Genomic Regulation (CRG) in Spain, and supported by ELIXIR, the European life sciences infrastructure, and the ”la Caixa” Foundation.

“The EGA is like a secure search engine for genomic data, which helps approved researchers find existing data about the disease they are studying,” explained Mallory Freeberg, EGA Coordinator at EMBL-EBI. “Before the EGA, data from a research study were generated once, analysed once, and often ‘locked away’ on the institute’s servers. The EGA makes it easy for researchers to share their data and access others’ data, in a safe and secure way. This means they can perform more complex analyses on even larger datasets to unlock new insights into human health and disease. The Federated EGA allows us to expand the benefits of data reuse across national borders and really increase the value and impact of the data.”

An important step to advance personalised medicine

Many countries have emerging personalised medicine programmes and research initiatives which generate useful data for understanding human health and disease. These datasets can reveal insights when compared to others, which is why data sharing across national borders is essential to help researchers understand the causes of diseases, such as cancer, rare diseases, or infectious diseases, and develop new medicines and treatments.

“We are entering a new era of medical research and treatment, with countries around the world launching large-scale genomics research projects to make the most out of advances in personalised medicine. This has only been possible because citizens and scientists decided to share their data and their discoveries. Easier discovery and sharing means higher quality science and a better return for the people it serves. By launching this initiative, we aim to help make all this possible” said ICREA Research Professor Arcadi Navarro, Professor at Universitat Pompeu Fabra (UPF) and Director of the EGA team at the Centre for Genomic Regulation (CRG).

However, data generated in a clinical context are subject to stricter governance than research data and must follow national data protection legislation. To solve this challenge, these sensitive data are typically shared using specialist repositories, which provide secure access and analysis tools to approved researchers.

One such repository is the European Genome-phenome Archive (EGA), which is managed by EMBL’s European Bioinformatics Institute in the UK and the Centre for Genomic Regulation (CRG) in Spain, with the support of the ”la Caixa” Foundation and ELIXIR, the European life sciences infrastructure.

 

Stored locally, accessible globally

Institutes from five countries have now committed to a collaboration that will improve how they provide access to sensitive data across national borders. The new Federated EGA provides a network of connected data resources that enables transnational access to human data for research, while also respecting national data protection regulations.

The Federated EGA is made up of ‘nodes’ based at research institutes which are typically nationally funded and operated. The nodes store and manage data locally while enabling researchers worldwide to discover and analyse the data in a secure way to gain new insights, without the data ever leaving the country where it was generated.

The Spanish FEGA (es-FEGA) is a national service for storing sensitive biomedical data in Spain. Supported by the Spanish Institute of Bioinformatics (INB-ISCIII / Spanish Elixir Node) in collaboration with Central EGA, es-FEGA will be a central component of the data structure of the Spanish Personalized Medicine initiative (IMPaCT) coordinated by Barcelona Supercomputing Center – Centro Nacional de Supercomputación (BSC-CNS) facilities.

“The signing of FEGA culminates a transformation process which enables the analysis of genomic data in a federated and secure system on which personalized medicine will be built in Europe. FEGA will allow us to store and organize the genomic data of all IMPaCT projects, keeping them safely in the country while connecting with FEGA nodes in other countries to carry out biomedical projects that require large numbers of cases to have the necessary reliability for medical applications”, says ICREA Research Professor Alfonso Valencia, director of the Department of Earth Sciences of the BSC-CNS.

The “Central” EGA nodes - based in the UK and Spain - continue to be maintained by EMBL-EBI and CRG and offer services for all researchers worldwide. Importantly, Central EGA is the main hub by which all data within the Federated EGA network can be discovered in support of a truly global resource to accelerate disease research and improve human health.

In addition to the Spanish node of the BSC-CNS, there are four other nodes coordinated by the central EGA in Germany, Sweden, Finland and Norway.