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. 2025 Jun;30(6):523-532.
doi: 10.1111/resp.70039. Epub 2025 Mar 26.

Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis

Giovanni Franco  1   2 , Ibrahima Ba  3 , Nadia Nathan  4 , Cécile Guerin  1 , Albane Lassus  1 , Caroline Kannengiesser  3 , Antoine Froidure  5 , Effrosyni Manali  6 , Vincent Bunel  7 , Philippe Bonniaud  8 , Diane Bouvry  9 , Marie Pierre Debray  10 , Pierre Antoine Juge  11 , Ralph Epaud  12 , Camille Louvrier  13 , Aurélie Plessier  14 , Flore Sicre de Fontbrune  15 , Lidwine Wémeau-Stervinou  16 , Sylvain Marchand Adam  17 , Alexandre Chabrol  18 , Arnaud Maurac  19 , Laurent Savale  20 , David Montani  20 , Caroline Raynal  21 , Marina Konyukh  22   23 , Arthur Mageau  24 , Bruno Crestani  1 , Vincent Cottin  25 , Alix de Becdelièvre  22   23 , Raphaël Borie  1 ; Respifil and OrphaLung
Affiliations

Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis

Giovanni Franco et al. Respirology. 2025 Jun.

Abstract

Background and objective: 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.

Methods: 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.

Results: 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.

Conclusion: This study suggests that geneMDD could influence the treatment of FPF patients.

Keywords: genetic disorder; interstitial pulmonary fibrosis; multidisciplinary discussion; surfactant related genes; telomerase related genes.

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Conflict of interest statement

E.M. reports payment or honoraria for lectures, presentations, speaker bureaus, manuscript writing, or educational events from AstraZeneca, Boehringer Ingelheim, Demo, Roche, Elpen HELLAS; support for attending meetings and/or travel from Boehringer Ingelheim and Elpen HELLAS, all outside the submitted work. P.B. reports grants or contracts from AstraZeneca; payment or honoraria for lectures, presentations, speaker bureaus, manuscript writing, or educational events from Sanofi, AstraZeneca, GSK; support for attending meetings and/or travel from AstraZeneca, Novartis, Sanofi, Boehringer Ingelheim, Stallergene, and GSK; participation on a Data Safety Monitoring Board or Advisory Board for AstraZeneca, Novartis, Sanofi, GSK, and Boehringer Ingelheim. b.c. reports grants or contracts from Boehringer Ingelheim; consulting fees from BMS, Boehringer Ingelheim, Chiesi, GSK, and Sanofi; payment or honoraria for lectures, presentations, speaker bureaus, manuscript writing, or educational events from Astra Zeneca, BMS, Boehringer Ingelheim, GSK, Novartis, Roche, and Sanofi; support for attending meetings and/or travel from Astra Zeneca, BMS, Boehringer Ingelheim, Roche, and Sanofi; participation on a Data Safety Monitoring Board or Advisory Board for BMS, Boehringer Ingelheim, Horizon, and Sanofi; and he is president of the board of the Fondation du Souffle, a French charity, all outside the submitted work. R.B. reports consulting fees from Boehringer Ingelheim, Ferrer, and Sanofi; payment or honoraria for lectures, presentations, speaker bureaus, manuscript writing, or educational events from Boehringer Ingelheim; support for attending meetings and/or travel from Boehringer Ingelheim, all outside the submitted work. The other authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Flow‐chart of the study. geneMDD, genetic Multidisciplinary Discussion; ILD, interstitial lung diseases; PFMG, Plan France Médecine Génomique; WGS, whole genome sequencing.
FIGURE 2
FIGURE 2
Pedigree of the families included in Plan France Médecine Génomique. Whole genome sequencing was performed in blood samples from 3 or 4 relatives in each family (indicated by *).
FIGURE 3
FIGURE 3
Sankey diagram summarising the changes in treatment recommended by the genetic multidisciplinary discussion.
See this image and copyright information in PMC

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