TY - JOUR
T1 - Diagnosis, screening, and follow-up of patients with familial interstitial lung disease
T2 - Results from an international survey
AU - Moen, Emil Vilstrup
AU - Prior, Thomas Skovhus
AU - Kreuter, Michael
AU - Wuyts, Wim A.
AU - Molina-Molina, Maria
AU - Wijsenbeek, Marlies
AU - Morais, Antonió
AU - Tzouvelekis, Argyrios
AU - Ryerson, Christopher J.
AU - Caro, Fabian
AU - Buendia-Roldan, Ivette
AU - Magnusson, Jesper M.
AU - Lee, Joyce S.
AU - Morisett, Julie
AU - Oldham, Justin M.
AU - Troy, Lauren K.
AU - Funke-Chambour, Manuela
AU - Alberti, Maria Laura
AU - Borie, Raphael
AU - Walsh, Simon L.F.
AU - Rajan, Sujeet
AU - Kondoh, Yasuhiro
AU - Khor, Yet H.
AU - Bendstrup, Elisabeth
N1 - Publisher Copyright:
© The Author(s) 2025.
PY - 2025/12
Y1 - 2025/12
N2 - BACKGROUND: Advances in the field of genetics of interstitial lung diseases (ILDs) have led to the recent consensus statements made by expert groups. International standards for genetic testing in ILD have not yet been established. We aimed to examine current real-world strategies employed by pulmonologists working with familial ILD. METHODS: A panel of pulmonologists with expertise in ILD developed an international survey aimed at clinicians working with ILD. The survey consisted of 74 questions divided into eight topics: characteristics of respondents, diagnosis, screening of first-degree relatives, screening tools, genetic testing methods, lung transplantation, ethical concerns, and future needs. RESULTS: Overall, 237 pulmonologists from 50 countries participated. A family history of ILD was asked for by 91% of respondents while fewer asked for symptoms related to telomere disorders. Respondents stated that 59% had access to genetic testing, and 30% to a genetic multidisciplinary team (MDT). Many respondents were unaware of specific genetic testing methods. Pathogenic genetic variants were seen as a potential contraindication for lung transplantation in 6-8% of respondents. Genetic screening of relatives was supported by 80% of respondents who indicated insufficient evidence and a lack of formal guidelines for genetics and ILD. Only 16% had a standardized program. CONCLUSION: Most pulmonologists ask for a family history of ILD and recommend genetic testing for ILD and screening in relatives but have limited knowledge of specific tests and access to genetic MDT. Evidence-based guidelines to inform patients, relatives, and physicians are still warranted.
AB - BACKGROUND: Advances in the field of genetics of interstitial lung diseases (ILDs) have led to the recent consensus statements made by expert groups. International standards for genetic testing in ILD have not yet been established. We aimed to examine current real-world strategies employed by pulmonologists working with familial ILD. METHODS: A panel of pulmonologists with expertise in ILD developed an international survey aimed at clinicians working with ILD. The survey consisted of 74 questions divided into eight topics: characteristics of respondents, diagnosis, screening of first-degree relatives, screening tools, genetic testing methods, lung transplantation, ethical concerns, and future needs. RESULTS: Overall, 237 pulmonologists from 50 countries participated. A family history of ILD was asked for by 91% of respondents while fewer asked for symptoms related to telomere disorders. Respondents stated that 59% had access to genetic testing, and 30% to a genetic multidisciplinary team (MDT). Many respondents were unaware of specific genetic testing methods. Pathogenic genetic variants were seen as a potential contraindication for lung transplantation in 6-8% of respondents. Genetic screening of relatives was supported by 80% of respondents who indicated insufficient evidence and a lack of formal guidelines for genetics and ILD. Only 16% had a standardized program. CONCLUSION: Most pulmonologists ask for a family history of ILD and recommend genetic testing for ILD and screening in relatives but have limited knowledge of specific tests and access to genetic MDT. Evidence-based guidelines to inform patients, relatives, and physicians are still warranted.
UR - http://www.scopus.com/inward/record.url?scp=85217838278&partnerID=8YFLogxK
U2 - 10.1186/s12890-025-03532-0
DO - 10.1186/s12890-025-03532-0
M3 - Article
C2 - 39901224
AN - SCOPUS:85217838278
SN - 1471-2466
VL - 25
SP - 59
JO - BMC Pulmonary Medicine
JF - BMC Pulmonary Medicine
IS - 1
M1 - 59
ER -