Impact of genetic multidisciplinary team discussion on lung fibrosis

Approximately 30% of individuals diagnosed with familial pulmonary fibrosis (FPF) exhibit a pathogenic variant upon genetic analysis, predominantly found in telomere and surfactant-related genes. We established a web-based genetic Multidisciplinary Discussion (geneMDD) aimed to enhance expertise in diagnosing and managing FPF (<italic>Borie R, et al. Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis. Orphanet J Rare Dis. 2019</italic>). This study aimed at prospectively evaluating the impact of geneMDD on diagnosis and treatment in patients referred to geneMDD from September 1, 2022, to January 31, 2024. A total of 108 patients were included, with 100 patients undergoing genetic analysis. Before geneMDD, rare variants were detected in 79 out of 100 patients, among which 63 variants were classified as pathogenic/likely pathogenic. Following geneMDD, 2 variants (3%) were reclassified as variants of unknown significance (VUS) (n=1) or benign (n=1). Among the 16 variants initially classified as VUS, 2 were reclassified as likely pathogenic/pathogenic. The pulmonary diagnosis was confirmed for all patients (unclassifiable lung fibrosis was the most frequent diagnosis, n=36, 33.3%). The therapeutic regimen was changed after MDD in 30 patients: introduction of antifibrotics in 19 patients, immunosuppressant stop in 5 patients, added or modified immunosuppressant in 10 patients. Factors associated with therapeutic changes included the pulmonary diagnosis (53% of patients whose therapy was changed were affected by unclassifiable ILD) (p = 0.043) and presence of a pathogenic/likely pathogenic variant (p = 0.002). While additional data are necessary, this study suggests that geneMDD strongly influence the treatment of FPF patients.

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Published
2024-09-14
DOI
https://doi.org/10.1183/13993003.congress-2024.pa4289
Primary Topic
Biomedical and Engineering Education
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article
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article

Impact of genetic multidisciplinary team discussion on lung fibrosis

Diane Bouvry, Aurélie Plessier, Vincent Cottin, Alix de Becdelièvre et al.
Biomedical and Engineering Education
article

Impact of genetic multidisciplinary team discussion on lung fibrosis

Diane Bouvry, Aurélie Plessier, Vincent Cottin, Alix de Becdelièvre, Vincent Brunel, Giovanni Franco, S. Marchand‐Adam, Alexandre Chabrol, A Lassus, Antoine Froidure, Nadia Nathan, Ibrahima Ba, Camille Louvrier, Laurent Savale, Arnaud Maurac, Lidwine Wémeau-Stervinou, Caroline Kannengiesser, Bruno Crestani, Philippe Bonniaud, David Montani, Flore Sicre de Fontbrune, Raphaël Borie, Ralph Epaud, Marie‐Pierre Debray, Pierre Antoine Juge, Effrosyni Manali, Cécile Guerin
article en

Abstract

Approximately 30% of individuals diagnosed with familial pulmonary fibrosis (FPF) exhibit a pathogenic variant upon genetic analysis, predominantly found in telomere and surfactant-related genes. We established a web-based genetic Multidisciplinary Discussion (geneMDD) aimed to enhance expertise in diagnosing and managing FPF (<italic>Borie R, et al. Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis. Orphanet J Rare Dis. 2019</italic>). This study aimed at prospectively evaluating the impact of geneMDD on diagnosis and treatment in patients referred to geneMDD from September 1, 2022, to January 31, 2024. A total of 108 patients were included, with 100 patients undergoing genetic analysis. Before geneMDD, rare variants were detected in 79 out of 100 patients, among which 63 variants were classified as pathogenic/likely pathogenic. Following geneMDD, 2 variants (3%) were reclassified as variants of unknown significance (VUS) (n=1) or benign (n=1). Among the 16 variants initially classified as VUS, 2 were reclassified as likely pathogenic/pathogenic. The pulmonary diagnosis was confirmed for all patients (unclassifiable lung fibrosis was the most frequent diagnosis, n=36, 33.3%). The therapeutic regimen was changed after MDD in 30 patients: introduction of antifibrotics in 19 patients, immunosuppressant stop in 5 patients, added or modified immunosuppressant in 10 patients. Factors associated with therapeutic changes included the pulmonary diagnosis (53% of patients whose therapy was changed were affected by unclassifiable ILD) (p = 0.043) and presence of a pathogenic/likely pathogenic variant (p = 0.002). While additional data are necessary, this study suggests that geneMDD strongly influence the treatment of FPF patients.

Université Claude Bernard Lyon 1 (FR), Délégation Paris 5 (FR), Cliniques Universitaires Saint-Luc (BE), Inserm (FR), Université Paris-Est Créteil (FR), National and Kapodistrian University of Athens (GR), Université Paris Cité (FR), Université Paris-Saclay (FR), Hôpital Beaujon (FR), Centre Hospitalier Universitaire de Bordeaux (FR), Centre Hospitalier Universitaire de Lille (FR), Sorbonne Université (FR), Hôpital Armand-Trousseau (FR), Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement (FR), Université Sorbonne Paris Nord (FR), Centre Hospitalier Universitaire de Tours (FR), Assistance Publique – Hôpitaux de Paris (FR), CHU Dijon Bourgogne (FR), Hôpital Cardiologique du Haut-Lévêque (FR), Hôpital Avicenne (FR), Hôpitaux Universitaires Henri-Mondor (FR), Hôpital Louis Pradel (FR), Hôpital Saint-Louis (FR), Hôpital Bichat-Claude-Bernard (FR), Hôpital Foch (FR), Hôpital Intercommunal de Créteil (FR), Bicêtre Hospital (FR)
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Biomedical and Engineering Education
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