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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 Pulmonology by Moen et al.
Advancements in the genetics of interstitial lung diseases (ILDs) led to recent consensus statements by expert groups, though international standards for genetic testing in ILD were not yet established.
Researchers conducted a retrospective study to examine real-world strategies employed by pulmonologists in managing familial ILD.
They developed an international survey created by a panel of pulmonologists with expertise in ILD, targeting clinicians working with ILD. The survey included 74 questions organized into 8 sections: respondent characteristics, diagnosis, screening of first-degree relatives, screening tools, genetic testing methods, lung transplantation, ethical concerns, and future needs.
The results showed that 237 pulmonologists from 50 countries participated. A family history of ILD was inquired about by 91%, while fewer were asked about telomere disorder symptoms. Access to genetic testing was reported by 59%, and 30% had access to a genetic multidisciplinary team (MDT). Many respondents lacked awareness of specific genetic testing methods and 6-8% viewed pathogenic genetic variants as a potential contraindication for lung transplantation, 80% supported genetic screening of relatives, citing insufficient evidence and the absence of formal guidelines for genetics and ILD and only 16% had a standardized program.
Investigators concluded that most pulmonologists inquired about a family history of ILD and recommended genetic testing and screening for relatives but had limited knowledge of specific tests and access to genetic MDT, with a need for evidence-based guidelines to inform patients, relatives, and physicians.
Source: bmcpulmmed.biomedcentral.com/articles/10.1186/s12890-025-03532-0
