B1MG - D5.1 B1MG maturity level model and country-specific alignment within the model

The Beyond One Million Genomes Maturity Level Model (B1MG MLM) was created as a tool for countries to self-assess the maturity level of implementation of genomics into their healthcare systems, according to a common matrix, and to define a path to optimization. As such, it aims to promote and facilitate the adoption of genomics in healthcare systems, close the best practice gaps across Europe, and make personalised medicine accessible to citizens and patients across Europe.

This report describes the design of the B1MG MLM and the content validation through a Delphi exercise. A draft version of the MLM was initially developed after careful review of recently published literature and input from experts from the 1+ Million Genomes Initiative1 (1+MG) and the Beyond 1 Million Genomes Project2 (B1MG). This initial framework included 8 domains, each comprising several subdomains for which indicators and respective levels of maturity were assigned. The maturity level per indicator was rated in a scale from 1 to 5, namely from a non-existent or Ad hoc level of implementation to a level of maturity characterised by a system adaptable to opportunity and change, and in support of international cooperation.

The content and structure of the designed framework was validated through a two round Delphi exercise to find consensus among a panel of 14 high level experts. The process validated the 8 proposed domains, namely:

1. Governance and strategy

2. Investment and economic mode

3. Ethics, legislation and policy

4. Public awareness and acceptance

5. Workforce skills and organisation

6. Clinical organisation, infrastructure and tools

7. Clinical genomics guidelines and infrastructure

8. Data management, standards and infrastructure.

The 147 items initially proposed were validated after inclusion of comments and suggestions by

the Delphi expert panel. The final version of the B1MG MLM can be found here3.

To facilitate the use of the B1MG MLM an Assessment Tool Kit was developed, including a User’s Guide and an Assessment Tool. A pilot with voluntary countries is currently ongoing, to assess feasibility in real life healthcare settings, stimulate discussion among stakeholders across European health systems, address transferability of best practices, and finally discuss the development of an action plan for progress towards optimisation.