Beyond 1 million genomes (B1MG) D5.2 Roadmap and guidance tool for countries

Implementing genomic medicine in healthcare services comes with important challenges, including to ensure a highly skilled workforce, a sound legal and ethical framework for data use and sharing, a technical infrastructure for data collection, analysis, and interpretation of genomic data, the public and the patient's trust and involvement, and the equitable access to the important benefits brought by genomic medicine to all citizens. Healthcare systems thus need to manage a complex and interconnected ecosystem, which involves relevant stakeholders, organisations and processes needed to deliver efficient, accessible and equitable treatment, diagnosis and prevention based on genomics. Multiple key areas must be addressed and developed harmoniously to allow for this ecosystem to deliver the best medical care, be sustainable, while allowing for continuous integration of innovation.

In order to guide healthcare systems through the complex process of implementation of genomics in healthcare, the Beyond 1 Million Genomes (B1MG) project, 1 through its WP on Delivering Personalised Medicine cross-borders: implementation in healthcare systems and societal impact, created a playbook entitled “A roadmap for genomics in healthcare”. This document addresses issues in the entire chain of value, including technical infrastructure for genomic data, clinical guidelines and infrastructure, ELSI policies, synergies with research and industry, capacity building, economic models and governance, providing pointers to detailed information that can support the implementation of genomics in healthcare systems. The roadmap proposes a series of sequential steps: assess, learn, plan and implement. Starting with assessing the current situation and aimed maturity level of the healthcare system, further learning is encouraged from countries that have considerably advanced in their genomic strategies, and recommendations on experts from the field. The roadmap includes many pointers to best practices, tools and documents with guidelines and recommendations to support the implementation of genomics in healthcare systems.

A roadmap for genomics in healthcare is informed by the B1MG Maturity Level Model (MLM)2 (Deliverable 5.1)3, a tool that provides a common matrix for healthcare systems to self-assess their maturity in genomic medicine in eight key areas, and develop a plan for improvement. Results of a pilot using the MLM in eight European countries, allowed the development of a genomic maturity benchmark for each MLM indicator. Three capacity building Country Exchange Visits4 (CEV), organised to countries with established genomic medicine programmes, namely to the United Kingdom, Estonia, and Finland, provide further support to healthcare systems with recommendations and best practice examples. The most relevant outcomes of these CEVs are published in the Policy Brief (PB)5 Genomics in healthcare: key issues for implementation, outlining key messages and recommendations for adoption of genomics in healthcare, as well as the videos from the CEVs6789 and a report10. Also included are recommendations on indicators of economic viability for the integration of genomics into healthcare in European countries (Deliverable 5.3 , HEOR Recommendations , HEOR Summary 11 12 Brief13). Pointers to the recommendations and guidelines from the 1+MG Framework14, developed by the B1MG project, examples of best practices and outputs from other projects under the umbrella of the International Consortium for Personalised Medicine (ICPerMed)15 as well as guidelines from the Global Alliance for Genomic Health (GA4GH)16 are also included.

This roadmap is therefore a very comprehensive guide to the current status of the field of genomic medicine in healthcare, covering all crucial areas with the most up to date recommendations for genomic medicine in healthcare.