Geographical, institutional and workplace variability in genetic evaluation, screening practices, multidisciplinary...

Advances in genetics have improved the understanding of risk factors for interstitial lung diseases (ILDs). However, geographical and institutional differences in genetic evaluation may affect clinical practice. We aimed to investigate how such variability influences access to genetic testing and screening, awareness of telomerase mutation-related symptoms, and the management of lung transplantation in familial ILD.

An expert panel of pulmonologists working in the field of ILD developed an international survey targeting pulmonologists involved in ILD care. The survey comprised 74 questions addressing diagnosis, screening, genetic testing methods, lung transplantation, and future research needs in familial ILD.

In total, 237 pulmonologists representing 50 countries participated in the survey. Respondents from Europe, Oceania, and North America reported significant better access to genetic testing compared to the other continents. European respondents more often had a standardized screening program for first degree relatives than respondents from other continents. Having access to genetic testing significantly increased the likelihood of asking for a family history of early gray hair, liver cirrhosis, and bone marrow disease if a family history of ILD was present and in patients with idiopathic ILD younger than 50 years. Respondents from academic centers were significantly more likely than those from ILD centers to consider telomere length below the 10th percentile as a contraindication for lung transplantation. Respondents from non-academic centers were significantly less likely to treat patients with antifibrotic therapy compared to respondents from academic and ILD centers.

This study demonstrated significant differences in access to genetic testing, screening and genetic multidisciplinary teams as well as differences in the management of lung transplantation and antifibrotic therapy in familial ILD. These findings highlight the need for international collaboration to develop evidence-based guidelines for the management of familial ILD.