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The following is a summary of “Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey,” published in the February 2025 issue of the BMC Pulmonary Medicine by Moen et al.
Recent advancements in the genetic understanding of interstitial lung diseases (ILDs) have led to expert consensus statements, yet standardized international guidelines for genetic testing in ILDs remain undefined. This study aimed to assess real-world approaches employed by pulmonologists in managing familial ILD, identifying existing practices, challenges, and future needs. An international panel of ILD specialists designed a comprehensive survey targeting clinicians involved in ILD care. The survey comprised 74 questions across eight domains: respondent demographics, diagnostic approaches, screening of first-degree relatives, available screening tools, genetic testing methodologies, considerations for lung transplantation, ethical concerns, and perceived future requirements.
A total of 237 pulmonologists from 50 countries participated. While 91% of respondents routinely inquired about a family history of ILD, fewer assessed symptoms associated with telomere disorders. Access to genetic testing was reported by 59% of participants, yet only 30% had access to a multidisciplinary team (MDT) specializing in genetic evaluation. Many respondents demonstrated limited awareness of specific genetic testing methods. Notably, 6–8% of pulmonologists regarded the presence of pathogenic genetic variants as a potential contraindication for lung transplantation. Genetic screening of first-degree relatives was endorsed by 80% of respondents, yet the absence of robust evidence and formalized guidelines was cited as a significant barrier to implementation. Only 16% of clinicians reported the existence of standardized genetic screening programs within their practice.
These findings underscore a widespread recognition of the importance of genetic assessment in ILD management, yet they also highlight critical gaps in knowledge, resources, and guideline availability. While pulmonologists increasingly advocate for genetic testing and screening of at-risk relatives, significant limitations persist in terms of expertise, access to genetic counseling, and multidisciplinary collaboration. The results emphasize the urgent need for evidence-based international guidelines to standardize genetic evaluation, inform patient counseling, and guide clinical decision-making in familial ILD. Addressing these gaps will be essential in optimizing personalized care, improving early detection, and facilitating appropriate interventions for patients and their families.
Source: bmcpulmmed.biomedcentral.com/articles/10.1186/s12890-025-03532-0
