Implementation of whole Genome Sequencing into Clinical Practice

09 January 2023 – The 1+ Million Genomes Initiative published a summary paper with recommendations to the European Commission and member states on how to implement whole genome sequencing into clinical practice.

Advances in genome sequencing technology have enabled improvements in diagnosis, treatment, and personalised care and prevention. As genome testing is regulated at the national level, different financial and infrastructure systems are likely to lead to different diagnostic and treatment strategies, and thus different and unequal health outcomes across the EU.

The 1+ Million Genomes Initiative Health Economics and Outcomes Research (HEOR) working group reviewed EU initiatives to translate whole genome sequencing into clinical practice and published their findings in a summary paper available here.

The 1+ Million Genomes (1+MG) initiative aims to enable secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making. Since the Digital Day 2018, 24 EU countries, the UK and Norway signed Member States’ declaration on stepping up efforts towards creating a European data infrastructure for genomic data and implementing common national rules enabling federated data access. The initiative forms part of the EU’s agenda for the Digital Transformation of Health and Care and is aligned with the goals of the European Health Data Space.