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Beyond 1M Genomes

Periodic Reporting for period 1 - B1MG (Beyond 1M Genomes)

Reporting period: 2020-06-01 to 2022-01-31

The Beyond 1 Million Genomes (B1MG) consortium will establish the support and coordination structure for the European 1+ Million Genomes initiative (1+MG), which is based upon the commitment of 22 EU countries, the UK and Norway and that have signed the ‘Towards access to at least 1 million sequenced genomes in the EU by 2022’. With France, Ireland, Poland, Switzerland as observers. Collectively, these countries have committed to establishing a cross-border federated network of national genome collections associated with phenotypic data, consented to advance health and medicine practices across Europe. Europe is uniquely placed to take on this challenge and position itself as a global leader in this field.
B1MG will go ‘beyond’ the 1M genome target and ‘beyond’ the 24 signatory countries. The project will collaborate with an array of international initiatives and consult a range of key stakeholders to support the creation of a pan-European genome-based health data infrastructure, encompassing data quality and exchange standards, access protocols and legal guidance. Recommendations will be translated to a B1MG maturity level model that provides concrete guidance on the steps required to implement personalised medicine, a healthcare approach that considers a person’s genetic makeup at a local, regional and national scale. Personalised medicine brings significant socio-economic benefits, including more efficient national health systems. Faster and more accurate diagnosis, pharmacogenomics development, and the advancement of preventative medicine will lead to better health, patient quality of life, and increased life expectancy. This will be captured in a methodology for economic evaluation, forming the basis of future business cases for implementation in the health sector

WP1: Framework for Cooperation through Stakeholders Engagement, Awareness & Alignment
- 1+MG Stakeholder engagement strategy:
- 1+MG Stakeholders forum:
- 1+MG Stakeholders portal:

WP2:Ethical, Legal & Societal Issues (ELSI)
- Inventory of relevant stakeholders, initiatives and policies that can give inputs to B1MG:
- Draft policies and best practice guidelines:
- Draft report in legal set-up including DPA:
- Draft policy and access framework for discussion:

WP3:Standards & Quality Guidelines
- Quality metrics for sequencing:
- Documented best practices in sharing and linking phenotypic and genetic data - 2v0 (revised):

WP4:Federated Secure Cross-Border Technical Infrastructure
- Revised Secure cross-border data access roadmap:
- PoC Demonstrator video. Accessing RD data across borders:

WP5:Delivering Personalised Medicine cross-borders: Implementation in Healthcare systems and Societal Impact
- Maturity model for the deployment of genomic medicine in heath care systems:
- Country visits videos:
- Country visits policy brief:
- Review of EU initiatives related to the implementation of whole genome sequencing into clinical practice policy brief:

WP6:Work Package 6 - Coordination Office: Project Management, Communication, Governance and Sustainability
- Project website:
- Communication strategy including NMG factsheet:
- Project handbook:

WP7:Support for 1+MG Use Cases Working Groups
- New WP added after 1st amendment by the end of 2021
B1MG will deliver a set of recommendations, the 1+MG Trust Framework, that will establish the basis to kick-off the deployment and operation of the 1+MG infrastructure by the end of 2022
An overview of the current status is provided in the session above, which specific outputs or intermediate results on ELSI, Quality, Data Standard and Technical Infrastructure
The first demonstrator of the cross border access using the 1+MG infrastructure is available ( expanded from RD to Cancer. The current definition of the 1+MG infrastructure will evolve as required to support additional use cases and facilitate interoperability with the EHDS1 and EHDS2. The boundaries of the 1+MG initiative and the interfaces with EHDS1 and EHDS2 will be defined.
The EHDS regulations, expected to be published in May 2022, will influence the development of the ELSI components of the 1+MG Trust Framework. Additional effort will be devoted to improving and expanding communication with citizens.
The Maturity Level Model to assess and guide the implementation of genomic medicine into the health care system is now available and will be tested in a subset of countries in the coming months.
As part of the broader support to the 1+MG initiative, B1MG will continue providing ad-hoc support to WGs and, in particular, to WG12 Population Genetics. The Genome of Europe which was incorporated by the end of 2021.
The project will continue the support for the establishment, and the efficient and effective operations of the National Mirror Groups set up by each country.