1+MG Framework and Roadmap launch - paving the way to providing secure access to genomics and health data across Europe

Yesterday, the 1+ Million Genomes (1+MG) Initiative launched the 1+MG Framework website and adopted the 1+MG Roadmap 2023-27, which together pave the way for implementing genomics for personalised healthcare and research in Europe. The 1+MG Framework organises the recommendations, guidelines and best practices of European Union (EU) experts to realise the initiative’s ambition for secure access to genomics and health data across Europe. The 1+MG Roadmap 2023-27 provides detailed plans of how to get there and will be regularly updated.

The 1+MG Framework

The 1+MG Framework website is a user-friendly interface to navigate guidelines and recommendations representing the consensus of the 1+MG Working Groups (WGs). These encompass data governance, ethical, legal and social (ELSI) issues, data models and quality, sequencing guidelines, technical infrastructure, the implementation of genomics into healthcare, use cases and national resources. The framework can be used as a reference when implementing genomics initiatives at regional, national, European and global level.

Use of the components of the 1+MG Framework were demonstrated in the 1+MG Genomic Data Infrastructure starter kit, a set of software applications and components that form the genomics data infrastructure itself, in June 2023. Genomic data infrastructure will be in place and operational by April 2024, enabling six EU countries to manage genomic (and affiliated) data access. By 2026, 15 countries will have an operational infrastructure in place.

The 1+MG Framework will continue to evolve, driven by the 1+MG WG leaders to fulfil the 1+MG ambition, supported and in alignment with the European Health Data Space (EHDS) and key EU-funded projects like GDI, TEHDAS, HealthData@EU and EUCAIM. Together these initiatives will contribute to the deployment of genomic medicine across Europe.

The initial implementation involves collaboration with Global Alliance for Genomics and Health (GA4GH), to align initiatives and establish global access to genomics and health data. Engagement with Australia, Canada, UK and Switzerland will ensure global alignment, where possible.

The 1+MG Roadmap 2023-27

The 1+MG Roadmap 2023-2027 was endorsed by the signatory countries on 14 November 2023. It defines the path to realise the 1+MG ambition of enabling secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making.

The roadmap provides a way forward to lead to the development of more targeted personalised medicines, therapies and interventions for EU citizens. It outlines the objectives, progress, gaps and enablers for the scale-up and sustainability phase of the 1+MG Initiative. It follows the 2020-22 roadmap that focused on the design and testing phase, and implements the 1+MG Framework that brings together the recommendations, guidelines and best practices of EU experts to realise the initiative’s ambition.

The newly released roadmap is organised in five implementation tracks (Figure 1), all with the aim of enabling researchers, innovators and policy makers access to high quality genomic and health data across Europe, while protecting citizen information and rights. In addition, a number of use cases will support needs-driven development, continuous testing and optimisation, as well as contributing to collaborative pilot cases including research and innovation projects. Synthetic data will be used to support use cases as well as to validate the infrastructure and analytics and AI models.

1+MG Roadmap Implementation Tracks

Figure 1: The 1+MG Roadmap implementation tracks. PM = personalised medicine

In Figure 1, critical implementation tracks (horizontal) contribute to an operational 1+MG European genomics data infrastructure, which will enable demonstration of impact of personalised medicine in Europe. These are expanded in more detail below.

1+MG Roadmap 2023-27 implementation tracks

1+MG Framework - recommendations and guidelines for the implementation and deployment support of the 1+MG initiative across Europe. The Framework has been developed by national experts from 27 countries, through the 1+MG Working Groups

1+MG data infrastructure - the federated secure infrastructure due to be operational at least in fifteen countries by 2026 ( six by 2024), enabling federated analytics and learning. The data infrastructure involves development, testing, validation and deployment steps.

Accessible ‘1+MG proof’ data - data that reach the minimal standards for sequencing, management and quality to be labelled as ‘1+MG proof’.

National engagement: National Mirror Groups - groups of experts implementing the 1+MG Framework at the national level who liaise with national actors to facilitate infrastructure deployment and operation, data deposition, access and analysis.

Alignment and integration with the European Health Data Space (EHDS) and other initiatives and projects - towards a shared European interoperability framework and a common vision. Resources from the implementation of 1+MG are available to be used by any initiative or project requiring management of genomic and health data.

The 1+MG Initiative

Since 2018, 25 EU countries, plus the UK and Norway, have signed the 1+MG declaration for creating a European data infrastructure for genomic and health data enabling secure federated data access across borders to high-quality national resources. This will lead to better research, personalised healthcare and health policy making.

Funded by Horizon 2020, the Beyond 1 Million Genomes (B1MG) project, started developing recommendations and guidelines for implementing the 1+MG initiative ambition in 2020. Recommendations have been formulated based on the contributions of the 1+MG WG experts nominated by 1+MG signatories.

In 2022, the European Genomic Data Infrastructure (GDI) project, co-funded by Digital Europe, was launched to realise the 1+MG data infrastructure based on 1+MG Framework recommendations developed by B1MG. The GDI project guides the scale up and sustainability phase of the initiative by rolling out the data infrastructure required across 20 countries.

The infrastructure will support ELSI compliant, federated queries across EU repositories. Researchers will be able to quickly and efficiently identify accessible data for a study. Once access to the data has been granted following data governance principles, federated learning and analytics services will allow analysis of the data, accelerating research outcomes and their impact on healthcare, innovation and policy making.

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Posted: 15 November 2023