Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

• Published in: Orphanet journal of rare diseases Vol. 14; no. 1; p. 280
• Main Authors: Borie, Raphael, Kannengiesser, Caroline, Gouya, Laurent, Dupin, Clairelyne, Amselem, Serge, Ba, Ibrahima, Bunel, Vincent, Bonniaud, Philippe, Bouvry, Diane, Cazes, Aurélie, Clement, Annick, Debray, Marie Pierre, Dieude, Philippe, Epaud, Ralph, Fanen, Pascale, Lainey, Elodie, Legendre, Marie, Plessier, Aurélie, Sicre de Fontbrune, Flore, Wemeau-Stervinou, Lidwine, Cottin, Vincent, Nathan, Nadia, Crestani, Bruno
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 03.12.2019; BioMed Central; BMC
• Subjects: Age; Analysis; Care and treatment; Diagnosis; Familial; Familial; multidisciplinary discussion; Fibrosis; Genes; Genetic counseling; Genetic research; Genetic screening; Genetic testing; Genetics; Genomics; Human genetics; Immunomodulation; Immunosuppressive agents; Interstitial pulmonary fibrosis; Life Sciences; Lung diseases; Medical genetics; Medical research; multidisciplinary discussion; Mutation; Organ transplantation; Patients; Pediatrics; Physicians; Pneumonia; Pulmonary fibrosis; Rare diseases; Respiratory system agents; Respiratory tract diseases; Steroid hormones; Surface active agents; Surfactant; Surfactants; Surgery; Telomerase; Telomeres; TERT; Transplantation; France; Interstitial pulmonary fibrosis; TERT; Familial; multidisciplinary discussion; Surfactant; Telomerase
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-019-1256-5

Genetic 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. Since 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). Our 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.