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Background <p>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.</p> Methods <p>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.</p> Results <p>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.</p> Conclusion <p>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.</p>

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Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年2月3日

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  • 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

摘要

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.