datE: 18-04-2024 Status: FOR REVIEW

 

The Genomic Data Infrastructure (GDI) is a European implementation project within the framework of the “one million genome” (1+MG) initiative. Health-RI concentrates the Dutch participation in this project, which aims to roll out the infrastructure needed to make at least 1 million genomes (whole genome sequencing) of Europeans available for reuse. The infrastructure provided is a federated infrastructure: each participating country builds the infrastructure to make the genome information contributed by that country available through one national point, and to be able to process that data. In the Netherlands, under the auspices of Health-RI, we want to extend this federation another layer, so that each of the Health-RI regions sets up and manages its own part of the infrastructure.

Participation in GDI is an opportunity to establish the Health-RI infrastructure for sharing genome information in a way that is compatible with the European infrastructure. The project also offers an opportunity to demonstrate the Health-RI federation technology, based on a catalog with DCAT structure, in an international context.

The project is run in Health-RI from the omics working group in the Architecture theme, but many other parts of Health-RI are involved.

Five Functionalities

For GDI, each participant must be able to demonstrate five functionalities in a way that is interoperable with international standards. These five are:

• Finding Data (Data Discovery)

• Data Inclusion (Data Reception)

• Storage and Interfaces

• Data Access Management Applications (Data Access Management Tools)

• Processing (Processing).

More information about this can be found on the website that describes the milliongenomes framework.

Starter Kit

To make it easier to get new countries started with the five functionalities, a kit of software tools has been made available that can deliver these functionalities in combination. However, each country is free to make different choices and use different tools as long as they are interoperable with the chosen standards.

UMCG was the first to set up an installation on behalf of the Netherlands. Other participants in the omics working group (particularly the Princess Maxima Center, the Hartwig Medical Foundation, Amsterdam UMC and Radboud UMC) have already indicated that they also want to form a node in this network at a later date.

Catalog

As with the Health-RI infrastructure, the GDI infrastructure is built around a catalog that provides the first point of contact for potential users of the data. Health-RI introduces this catalog function into GDI.

Open

Application view GDI Starter kit

Data Governance

GDI provides for the establishment of a new central legal entity, a so-called European Digital Infrastructure Consortium (EDIC), in which countries will become participants and which will be established by the European Commission. The 1+MG EDIC will carry out the central data governance for 1+MG. It is planned to set up a central data access committee within the EDIC. The advice of this central committee can still be blocked by a well-reasoned veto from the data-providing countries.

National Governance

Participating countries in the milliongenomes initiative are each working on a National Mirror Group, a group of experts who, with the participation of government and the genome field, jointly make decisions about the paths to be followed. The national delegates in the working groups of the 1+MG initiative are also members of the national mirror group. There is also such an expert group in the Netherlands, but it does not yet have the mandate to make decisions and therefore does not yet have the formal status of a mirror group.