In the last 10 years, most human omics data has been generated in the context of research consortia while recently there has been an emergence of large cohorts of human data generated by healthcare initiatives. Many countries in Europe now have nascent personalised medicine programmes. Thus, human genomics is shifting from being predominantly research-driven to being funded through healthcare systems. Genetic data generated in a healthcare context is subject to more stringent information governance than research data and nonetheless all data must adhere to national data protections laws. In this context, EGA identified the need for the development of a federated network to enable secure sharing of data whilst enabling genetic data to remain within the jurisdiction in which it was generated. The Federated EGA is designed to support national data management requirements for genomic and clinical data collected from citizens as part of healthcare or biomedical research projects. It includes a secure authorised access mechanism to support research use of these data across Europe and worldwide.
We have engaged with over 14 ELIXIR countries to develop the federation model. The EGA federated configuration is composed of Central EGA, Federated EGA nodes and Community EGA nodes:
- Central EGA offers international submissions and helpdesk support, currently EGA co-managed by EMBL-EBI and CRG,
- Federated EGA nodes offer EGA services to researchers within their national jurisdiction,
- Community EGA nodes are individual institutions or initiatives with human genetic data intended to be shared with the research community.
Key services available in the Federated EGA structure are:
| Central EGA | Federated EGA node | Community EGA nodes | |
| Data submission | Offers international submissions service | Offers submission service in a particular jurisdiction | Does not offer an external submissions service |
| Helpdesk support | Provides external international helpdesk | Provides helpdesk support for submitters in its jurisdiction and for approved users of data managed at its facilities | Provides helpdesk support only for approved users of data managed at its facilities |
| Data distribution | Manages worldwide distribution for data hosted at Central EGA | Manages worldwide distribution for data hosted at Federated EGA node | Distribution for data hosted at Community EGA node |
EMBL-EBI and CRG have prepared a series of documents describing the overall governance and coordination framework. These describe the Federated EGA structure, the rights and responsibilities of the different parties and governing committees, and node operation guidelines. The federation governance proposal is under review by the first countries invited to join as Federated nodes, with further interested countries likely to join in the coming years. The Central EGA team has been working closely with many ELIXIR partners, including ELIXIR Finland, Luxembourg, Germany, Norway, Spain and Sweden.
