Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis

Giovanni Franco; Ibrahima Ba; Nadia Nathan; Cécile Guerin; Albane Lassus; Caroline Kannengiesser; Antoine Froidure; Effrosyni Manali; Vincent Bunel; Philippe Bonniaud; Diane Bouvry; Marie Pierre Debray; Pierre Antoine Juge; Ralph Epaud; Camille Louvrier; Aurélie Plessier; Flore Sicre de Fontbrune; Lidwine Wémeau-Stervinou; Sylvain Marchand Adam; Alexandre Chabrol; Arnaud Maurac; Laurent Savale; David Montani; Caroline Raynal; Marina Konyukh; Arthur Mageau; Bruno Crestani; Vincent Cottin; Alix de Becdelièvre; Raphaël Borie; Respifil and OrphaLung

doi:10.1111/resp.70039

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Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis

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Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis

Giovanni Franco, Ibrahima Ba, Nadia Nathan, Cécile Guerin, Albane Lassus, Caroline Kannengiesser, Antoine Froidure, Effrosyni Manali, Vincent Bunel, Philippe Bonniaud, …

Respirology (Carlton, Vic.), Vol.30(6), pp.523-532

06/2025

DOI: https://doi.org/10.1111/resp.70039

PMID: 40134350

Résumé

Adult

Aged

Female

Genetic Testing - methods

Humans

Idiopathic Pulmonary Fibrosis - diagnosis

Idiopathic Pulmonary Fibrosis - genetics

Idiopathic Pulmonary Fibrosis - therapy

Interdisciplinary Communication

Male

Middle Aged

Patient Care Team

Prospective Studies

Pulmonary Fibrosis - diagnosis

Pulmonary Fibrosis - genetics

Pulmonary Fibrosis - therapy

Approximately 30% of individuals diagnosed with familial pulmonary fibrosis (FPF) exhibit a pathogenic variant upon genetic analysis. We established a genetic Multidisciplinary Discussion (geneMDD) aimed to enhance expertise in diagnosing and managing FPF. This study aimed at prospectively evaluating the impact of geneMDD on diagnosis and treatment in patients referred to geneMDD. In this prospective study, we enrolled all consecutive patients referred to the geneMDD. At each meeting, the impact of the meeting was questioned on the genetic conclusion, the pulmonary diagnosis, and the treatment. A total of 115 patients were included. Before geneMDD, rare variants were detected in 82 out of 107 patients, among which 65 variants were classified as pathogenic/likely pathogenic. Following geneMDD, 2 pathogenic variants (3%) were reclassified as variants of uncertain significance (VUS) (n = 1) or benign (n = 1). Among the 17 variants initially classified as VUS, 2 (11.8%) were reclassified as likely pathogenic/pathogenic. The pulmonary diagnosis was confirmed for all patients (unclassifiable lung fibrosis was the more frequent diagnosis, n = 38, 33.0%). The therapeutic regimen was changed after geneMDD in 30 patients. Factors associated with therapeutic changes included the pulmonary diagnosis and presence of a pathogenic/likely pathogenic variant. In addition, the French health system allows offering whole genome sequencing (WGS) in patients with a first negative genetic analysis by NGS panel after discussion in geneMDD, but in total, since September 1st, 2021, WGS was negative for the four analysed families. This study suggests that geneMDD could influence the treatment of FPF patients.

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Titre: Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis
Créateurs - sans rôle: Giovanni Franco - University of Milano Bicocca, School of Medicine and Surgery, UOC Pneumologia, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy
Ibrahima Ba - Assistance Publique – Hôpitaux de Paris
Nadia Nathan - AP-HP, Sorbonne Université, Pediatric Pulmonology Department and Reference Center for Rare Lung Disease RespiRare, Armand Trousseau Hospital, Paris, France
Cécile Guerin - Université Paris Cité, Inserm, PHERE, Hôpital Bichat, AP-HP, Service de Pneumologie A, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU APOLLO, Paris, France
Albane Lassus - Université Paris Cité, Inserm, PHERE, Hôpital Bichat, AP-HP, Service de Pneumologie A, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU APOLLO, Paris, France
Caroline Kannengiesser - AP-HP Service de Génétique, Hôpital Bichat, Paris, France
Antoine Froidure - Pulmonology Department, Cliniques Universitaires Saint-Luc and Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium
Effrosyni Manali - National and Kapodistrian University of Athens
Vincent Bunel - Service de Pneumologie B et Transplantation Pulmonaire, Hôpital Bichat, APHP, Inserm U1152, Université de Paris, Paris, France
Philippe Bonniaud - Centre de Référence Constitutif des Maladies Pulmonaires Rares de l'Adulte, Service de Pneumologie et Soins Intensifs Respiratoires, Centre Hospitalo-Universitaire de Dijon-Bourgogne, Inserm 1231 CTM, Dijon, France
Diane Bouvry - Université Sorbonne Paris Nord
Marie Pierre Debray - APHP, Service de Radiologie, Hôpital Bichat, Paris, France
Pierre Antoine Juge - Service de Rhumatologie, Hopital Bichat, Paris, France
Ralph Epaud - Service de pédiatrie, Centre Intercommunaux de Créteil, Créteil, France
Camille Louvrier - Département de Génétique Médicale, AP-HP Sorbonne Université, Hôpital Armand Trousseau, Paris, France
Aurélie Plessier - Service d'Hépatologie, AP-HP, Hôpital Beaujon, DMU DIGEST, Centre de Référence des Maladies Vasculaires du Foie, FILFOIE, ERN RARE-LIVER, Clichy, France
Flore Sicre de Fontbrune - Hôpital Saint-Louis
Lidwine Wémeau-Stervinou - CHU Lille, Service de Pneumologie et Immuno-Allergologie, Centre de Référence des Maladies Pulmonaires Rares (Site Constitutif), Lille, France
Sylvain Marchand Adam - Service de Pneumologie et d'explorations Fonctionnelles Respiratoires, CHRU de Tours, Tours, France
Alexandre Chabrol - Hôpital Foch
Arnaud Maurac - Centre Hospitalier Universitaire de Bordeaux
Laurent Savale - Université Paris-Saclay, AP-HP, Service de Pneumologie et Soins Intensifs Respiratoires, Hôpital de Bicêtre, DMU 5 Thorinno, Inserm UMR_S999, Le Kremlin-Bicêtre, France
David Montani - Assistance Publique – Hôpitaux de Paris
Caroline Raynal - Université de Montpellier
Marina Konyukh - Laboratoire de Biologie Médicale Multisites SeqOIA - PFMG2025, Paris, France
Arthur Mageau - Centre de référence des cytopénies Auto-Immunes de l'adulte, Service de Médecine Interne, Hôpital Henri Mondor, APHP, UPEC, Créteil, France
Bruno Crestani - Université Paris Cité
Vincent Cottin - Coordinating Reference Center for Rare Pulmonary Diseases, Louis Pradel Hospital, University of Lyon, INRAE, UMR754, ERN-LUNG, Lyon, France
Alix de Becdelièvre - Laboratoire de Biologie Médicale Multisites SeqOIA - PFMG2025, Paris, France
Raphaël Borie - Université Paris Cité, Inserm, PHERE, Hôpital Bichat, AP-HP, Service de Pneumologie A, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU APOLLO, Paris, France
Respifil and OrphaLung
Détails de publication: Respirology (Carlton, Vic.), Vol.30(6), pp.523-532
Identifiants: 99158753509311
Unité académique: Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Langue: English
Type de ressource: Journal article