Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey
Abstract 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 b...
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2025-02-01
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| author | Emil Vilstrup Moen Thomas Skovhus Prior Michael Kreuter Wim A. Wuyts Maria Molina-Molina Marlies Wijsenbeek Antonió Morais Argyrios Tzouvelekis Christopher J. Ryerson Fabian Caro Ivette Buendia-Roldan Jesper M. Magnusson Joyce S. Lee Julie Morisett Justin M. Oldham Lauren K. Troy Manuela Funke-Chambour Maria Laura Alberti Raphael Borie Simon L. F. Walsh Sujeet Rajan Yasuhiro Kondoh Yet H Khor Elisabeth Bendstrup |
| author_facet | Emil Vilstrup Moen Thomas Skovhus Prior Michael Kreuter Wim A. Wuyts Maria Molina-Molina Marlies Wijsenbeek Antonió Morais Argyrios Tzouvelekis Christopher J. Ryerson Fabian Caro Ivette Buendia-Roldan Jesper M. Magnusson Joyce S. Lee Julie Morisett Justin M. Oldham Lauren K. Troy Manuela Funke-Chambour Maria Laura Alberti Raphael Borie Simon L. F. Walsh Sujeet Rajan Yasuhiro Kondoh Yet H Khor Elisabeth Bendstrup |
| author_sort | Emil Vilstrup Moen |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-c00f66d84e5e4da79f015fc5767b8fe3 |
| institution | Kabale University |
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| language | English |
| publishDate | 2025-02-01 |
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| series | BMC Pulmonary Medicine |
| spelling | doaj-art-c00f66d84e5e4da79f015fc5767b8fe32025-02-09T12:09:37ZengBMCBMC Pulmonary Medicine1471-24662025-02-0125111010.1186/s12890-025-03532-0Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international surveyEmil Vilstrup Moen0Thomas Skovhus Prior1Michael Kreuter2Wim A. Wuyts3Maria Molina-Molina4Marlies Wijsenbeek5Antonió Morais6Argyrios Tzouvelekis7Christopher J. Ryerson8Fabian Caro9Ivette Buendia-Roldan10Jesper M. Magnusson11Joyce S. Lee12Julie Morisett13Justin M. Oldham14Lauren K. Troy15Manuela Funke-Chambour16Maria Laura Alberti17Raphael Borie18Simon L. F. Walsh19Sujeet Rajan20Yasuhiro Kondoh21Yet H Khor22Elisabeth Bendstrup23Department of Respiratory Diseases and Allergy, Centre for Rare Lung Diseases, Aarhus University HospitalDepartment of Respiratory Diseases and Allergy, Centre for Rare Lung Diseases, Aarhus University HospitalLung Center Mainz, Department of Pneumology, Mainz University Medical Center and Department of Pulmonary, Critical Care & Sleep Medicine, Marienhaus Clinic MainzUnit for Interstitial Lung Diseases, Dept Respiratory Medicine, University Hospitals LeuvenILD Unit, Respiratory Department, University Hospital of Bellvitge. IDIBELL. CIBERESCentre for Interstitial Lung Diseases and Sarcoidosis, Department of Respiratory Medicine, Erasmus University Medical CentrePulmonology Department, Centro Hospitalar São João, Porto, Portugal Faculty of Medicine, University of Porto, Porto, Portugal i3S Instituto de Biologia Molecular E Celular/Instituto de Investigação E Inovação Em Saúde, University of PortoDepartment of Respiratory Medicine, University of PatrasDepartment of Medicine and Centre for Heart Lung Innovation, University of British ColumbiaILD Unit, “Maria Ferrer” Hospital. Buenos Aires CityLaboratory of Traslational Research in Aging and Fibrosis Lung Disease. Instituto Nacional de Enfermedades Respiratorias Ismael Cosio VillegasDepartement of Respiratory Medicine, Institute of Medicine, University of GothenburgDepartment of Medicine, University of CO Denver – Anschutz Medical CampusDépartement de Médecine, Centre Hospitalier de L’Université de MontréalDivision of Pulmonary and Critical Care Medicine, University of MichiganDepartment of Respiratory and Sleep Medicine, Royal Prince Alfred HospitalDepartment for Pulmonary Medicine, Allergology and Clinical Immunology, Inselspital, Bern University Hospital, University of BernILD Unit, “Maria Ferrer” Hospital. Buenos AiresService de Pneumologie A Hôpital Bichat, APHP, Paris, France, Université Paris Cité, Inserm, PHERE, Université Paris CitéNational Heart and Lung Institute Imperial CollegeDepartment of Chest Medicine, Interstitial Lung Disease, Bombay Hospital Institute of Medical Sciences, and Bhatia HospitalDepartment of Respiratory Medicine and Allergy, Tosei General HospitalRespiratory Research@Alfred, School of Translational Medicine, Monash UniversityDepartment of Respiratory Diseases and Allergy, Centre for Rare Lung Diseases, Aarhus University HospitalAbstract 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.https://doi.org/10.1186/s12890-025-03532-0Familial pulmonary fibrosisFamilial ILDGenetic testingInterstitial lung diseaseMultidisciplinary team meetingsInternational survey |
| spellingShingle | Emil Vilstrup Moen Thomas Skovhus Prior Michael Kreuter Wim A. Wuyts Maria Molina-Molina Marlies Wijsenbeek Antonió Morais Argyrios Tzouvelekis Christopher J. Ryerson Fabian Caro Ivette Buendia-Roldan Jesper M. Magnusson Joyce S. Lee Julie Morisett Justin M. Oldham Lauren K. Troy Manuela Funke-Chambour Maria Laura Alberti Raphael Borie Simon L. F. Walsh Sujeet Rajan Yasuhiro Kondoh Yet H Khor Elisabeth Bendstrup Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey BMC Pulmonary Medicine Familial pulmonary fibrosis Familial ILD Genetic testing Interstitial lung disease Multidisciplinary team meetings International survey |
| title | Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey |
| title_full | Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey |
| title_fullStr | Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey |
| title_full_unstemmed | Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey |
| title_short | Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey |
| title_sort | diagnosis screening and follow up of patients with familial interstitial lung disease results from an international survey |
| topic | Familial pulmonary fibrosis Familial ILD Genetic testing Interstitial lung disease Multidisciplinary team meetings International survey |
| url | https://doi.org/10.1186/s12890-025-03532-0 |
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