ArticleOrphanet journal of rare diseases2019
Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Guideline
- Geographical, institutional and workplace variability in genetic evaluation, screening practices, multidisciplinary care, and lung transplantation management for familial interstitial lung disease.BMC pulmonary medicine · 2026Article
- The Impact of Genetics on Pediatric Interstitial Lung Diseases: A Narrative Literature Review and Clinical Implications.Biomedicines · 2026Review
- Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis.Respirology (Carlton, Vic.) · 2025Article
- Penetrance of interstitial lung disease and lung cancer in carriers ofERJ open research · 2025Article
- Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey.BMC pulmonary medicine · 2025Article
- High risk of lung cancer in surfactant-related gene variant carriers.The European respiratory journal · 2024Article
- Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective.Diagnostics (Basel, Switzerland) · 2022Review
- Etiologic Classification of Diffuse Parenchymal (Interstitial) Lung Diseases.Journal of clinical medicine · 2022Article
- Recent advances in understanding telomere diseases.Faculty reviews · 2022Review
- Article
- Interstitial lung disease in lysosomal storage disorders.European respiratory review : an official journal of the European Respiratory Society · 2021Article
- International multidisciplinary team discussions on the diagnosis of idiopathic non-specific interstitial pneumonia and the development of connective tissue disease.European clinical respiratory journal · 2021Article
- A comprehensive assessment of environmental exposures and the medical history guides multidisciplinary discussion in interstitial lung disease.Respiratory medicine · 2021Article
- Genetic disorders of the surfactant system: focus on adult disease.European respiratory review : an official journal of the European Respiratory Society · 2021Article
- Telomeres in Interstitial Lung Disease.Journal of clinical medicine · 2021Review
- A New Piece to Help Solve the Interstitial Lung Disease Diagnostic Puzzle.American journal of respiratory and critical care medicine · 2021Article
Corrections and comments
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Authors and funding
23 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenetic testing is proposed for suspected cases of monogenic pulmonary fibrosis, but clinicians and patients need specific information and recommendation about the related diagnosis and management issues. Because multidisciplinary discussion (MDD) has been shown to improve accuracy of interstitial lung disease (ILD) diagnosis, we evaluated the feasibility of a genetic MDD (geneMDD) dedicated to the indication for and interpretation of genetic testing. The geneMDD group met monthly and included pediatric and adult lung specialists with ILD expertise, molecular and clinical geneticists, and one radiologist. Hematologists, rheumatologists, dermatologists, hepatologists, and pathologists were also invited to attend.
resultsSince 2016, physicians from 34 different centers in 7 countries have participated in the geneMDD. The medical files of 95 patients (53 males) have been discussed. The median age of patients was 43 years [range 0-77], 10 were ≤ 15 years old, and 6 were deceased at the time of the discussion. Among 85 analyses available, the geneMDD considered the rare gene variants pathogenic for 61: 37 variants in telomere-related genes, 23 variants in surfactant-related genes and 1 variant in MARS. Genetic counseling was offered for relatives of these patients. The geneMDD therapeutic proposals were as follows: antifibrotic drugs (n = 25), steroids or immunomodulatory therapy (n = 18), organ transplantation (n = 21), watch and wait (n = 21), or best supportive care (n = 4).
conclusionOur experience shows that a dedicated geneMDD is feasible regardless of a patient's age and provides a unique opportunity to adapt patient management and therapy in this very rare condition.
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