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Recommendations for responsible implementation of genomics sequencing

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In December 2022, the European consortium ‘Beyond 1 Million Genomes’ (B+1MG) published the summary paper from the Health Economics and Outcomes Research (HEOR) Working Group. The recommendations for the European Commission and member states are focused on five areas: 1) Collaboration; 2) Data and information sharing; 3) Increase understanding of costs & benefits; 4) Modelling; 5) Implementation; with more detailed recommendations.

Whole Genome Sequencing (WGS) technology has the power to improve research, personalized healthcare and health policy making. A clear care pathway is currently lacking nor is there a clear understanding of a distinct framework in order to evaluate the use of WGS in each of the considered use cases (oncology, rare diseases, common complex diseases and infectious diseases). This could lead to different diagnostic and treatment strategies, and therefore different (unequitable) health outcomes across the EU.

Health Technology Assessment (HTA) can steer towards cost-effective solutions for implementing genomics. Transparency about (arguments for or against) policy decisions could help gain insight in lessons learned and distil key points to consider for HTA of WGS. The paper gives an overview of the relevant economic evaluation methods for genomics testing such as: Micro-costing, Budget Impact Analysis, Cost Utility Analysis, Cost consequence analysis, and Multi-criteria decision analysis.

B1MG is a coordination support act funded by the European Commission to drive the ‘1 + Million Genomes’ (1+MG). 1+MG aims to enable secure access to genomics and the corresponding clinical data across Europe for better research, personalized healthcare and health policy making. The objective of the HEOR Working Group is to share experiences and harmonizing methodology, when possible as the field is in development.

Contact for more information Ilse Custers, B1MG/1+MG: ilse.custers@lygature.org and https://b1mg-project.eu/

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