Fiche publication
Date publication
décembre 2025
Journal
European journal of human genetics : EJHG
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
,
Pr THAUVIN-ROBINET Christel
,
Dr PEYRON Christine
Tous les auteurs :
Gaudillat L, Patay L, Santenard J, Baurand A, Beaudouin A, Salvi D, Level C, Faivre L, Nowak F, Peyron C, Thauvin-Robinet C
Lien Pubmed
Résumé
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 analyses, coordinating sampling processes, and managing multidisciplinary meetings. This study provides the first nationwide assessment of the GPM role, assessing their professional profiles, activities, and job satisfaction. A quantitative questionnaire was distributed in May 2023 to all GPMs recruited, with a 90% response rate (36/40). Results show considerable heterogeneity in GPM profiles and responsibilities across different institutions. Most GPMs actively contribute to data entry in prescription systems (90%), participate in multidisciplinary meetings (85%), and train clinicians (80%). GPMs with genetic counsellor (GC) training are significantly involved in patient information sessions, enhancing the overall efficiency of the prescription process. Although GPMs expressed high job satisfaction, challenges remain, including geographical disparities, role standardization, and the need for continuous training. GPMs have proven to be key players in streamlining genomic medicine pathways. This study offers unique insights into an emerging role that may inspire similar developments in other countries.
Référence
Eur J Hum Genet. 2025 12 9;:
