Evidence map›Paper›PMID 41366566›Full record

ArticleEuropean journal of human genetics : EJHG2026

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

Léa Gaudillat, Léa Patay, Juliette Santenard, Amandine Baurand, Amandine Beaudouin, Dominique Salvi, Camille Level, Laurence Faivre, Frédérique Nowak, Christine Peyron and 1 more

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Léa GaudillatUniversité Bourgogne Europe, CHU Dijon Bourgogne, Inserm CTM UMR1231 GAD team, FHU TRANSLAD, Centre de génétique, Dijon, France. lea.gaudillat@chu-dijon.fr.ORCID 0009-0002-1598-4690
Léa PatayUniversité Bourgogne Europe, CHU Dijon Bourgogne, Inserm CTM UMR1231 GAD team, FHU TRANSLAD, Centre de génétique, Dijon, France.
Juliette SantenardUniversité Bourgogne Europe, CHU Dijon Bourgogne, Inserm CTM UMR1231 GAD team, FHU TRANSLAD, Centre de génétique, Dijon, France.
Amandine BaurandUniversité Bourgogne Europe, CHU Dijon Bourgogne, Inserm CTM UMR1231 GAD team, FHU TRANSLAD, Centre de génétique, Dijon, France.ORCID 0009-0005-6443-4187
Amandine BeaudouinService d'Oncogénétique, Centre Georges-François Leclerc, UNICANCER, Dijon, France.
Dominique SalviUniversité Bourgogne Europe, CHU Dijon Bourgogne, Inserm CTM UMR1231 GAD team, FHU TRANSLAD, Centre de génétique, Dijon, France.
Camille LevelUniversité Bourgogne Europe, CHU Dijon Bourgogne, Inserm CTM UMR1231 GAD team, FHU TRANSLAD, Centre de génétique, Dijon, France.
Laurence FaivreUniversité Bourgogne Europe, CHU Dijon Bourgogne, Inserm CTM UMR1231 GAD team, FHU TRANSLAD, Centre de génétique, Dijon, France.ORCID 0000-0001-9770-444X
Frédérique NowakInstitut thématique Technologies de la Santé, Inserm, Paris, France.
Christine Peyron *Laboratoire d'Économie de Dijon, Équipe Économie de la Santé, Université de Bourgogne Europe, Dijon, France. christine.peyron@u-bourgogne.fr.ORCID 0000-0003-3823-0859
Christel Thauvin-Robinet *Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm CTM UMR1231 GAD team, FHU TRANSLAD, Centre de génétique, Dijon, France. christel.thauvin@chu-dijon.fr.ORCID 0000-0002-4155-139X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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 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.

Indexed as

Critical PathwaysGenomic MedicineGenomicsFranceHumansRare Diseases

Identifiers

PMID41366566
PMCPMC12963429

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.