Genomic pathway managers: a novel role in the genomic medicine care pathway in France-overview and perspectives.

WHY IT MATTERS

If you have a rare disease in France, this new system could help your doctor identify your condition faster through genetic testing, potentially leading to earlier diagnosis and treatment options.

France is creating a new type of healthcare worker called a Genomic Pathway Manager to help doctors order genetic tests for patients with rare diseases and cancer. These managers will make it easier for patients to get genetic testing by organizing the process and helping doctors understand when and how to use these tests. The goal is to make genetic testing available to more people across France starting in 2025.

Genomic pathway managers: a novel role in the genomic medicine care pathway in France-overview and perspectives. Abstract: The 2025 French Genomic Medicine Initiative (PFMG2025) aims to make clinical genome sequencing (GS) widely accessible across France through the deployment of dedicated care pathways for rare diseases (RDs), cancer genetic predisposition (CGP), and cancers. This framework includes the establishment of two national GS laboratories, the definition of seventy priority pre-indications and the integration of new digital tools for e-prescription. To support these transformations, the French Ministry of Health created an innovative and internationally unprecedented role: Genomic Pathway Manager (GPM). These professionals are positioned at the interface between clinical practice, operational organisation of care pathways, and interdisciplinary coordination. They assist clinicians in prescribing GS Authors: Gaudillat et al. Journal: European journal of human genetics : EJHG MeSH: Humans, France, Genomic Medicine, Rare Diseases, Critical Pathways, Genomics