Abstract Rationale Familial Pulmonary Fibrosis (FPF) manifests when ≥2 family members have idiopathic pulmonary fibrosis or another interstitial lung disease (ILD). Advances in precision and genomic medicine can enable more targeted care for probands and proactive support for at-risk first-degree relatives. Methods Prospective data were collected (December 2024-October 2025) from our Regional FPF service in the UK. We analysed baseline demographics and clinical characteristics, FPF genetic results (Table 1) and multidisciplinary team (MDT) consensus. Results 75 patients attended our FPF service, of which 71 (94.7%) consented for the R421-FPF gene panel (nhsgms-panelapp.genomicsengland.co.uk/panels/1174/v1.3). Of all probands, 54 (72%) had family history of ILD, with 72 (96%) having first-degree relatives ≥40y/o without ILD, with a range of 0 to 8 first-degree relatives per proband. Of the total cohort, 32% had first-degree relatives with clinical features suggestive of telomere biology disorders. To the end of October 2025, 55 genetic results had been received (86% of samples), with an average reporting time of 3 months. 9% (5/55) had pathogenic/likely pathogenic variants, 11% (6/55) had Variants of Uncertain Significance (VUS). 47.3% of all results received (26/55) reported MUC5B risk allele and 32.7% (18/55) had no variants identified. Five probands had variants in telomere-related genes (two cases: RTEL1; two cases: TERT; one case PARN) and risk allele MUC5B. Among the genetic results, 37 (67.3%) have been discussed in our dedicated FPF MDT, which includes experts from Clinical Genetics, Hepatology, Haematology, Immunology, Diagnostic Genetics and ILD services both nationally and internationally. 46% (17/37) of probands were referred to Clinical Genetics services, 40.5% (15/37) for consideration of Leukocyte Telomere Length testing and 8% for further investigation of VUS, and 13.5% (5/37) referred to another specialist service (Hepatology/ILD/Diagnostic Genetics/Haematology). The MDT discussions also addressed potential care pathways for at-risk first-degree relatives, with 24.3% (9/37) referred on to Clinical Genetics services and 5.4% (2/37) to specialist services (Respiratory/ILD). Where variants were identified (including the MUC5B risk allele), the probands and their relatives received an information letter with advice on risk factors such as quitting smoking/vaping, occupational/environmental exposure, among others. Conclusion Our data suggests a specialist FPF service with MDT expert consensus can enhance the targeted clinical management of these high-risk patients, and facilitate early, structured engagement of first-degree relatives potentially at risk of developing ILD in the future. Development of a national MDT and registry within a formal care pathway/screening programme would be recommended to address this unmet need. This abstract is funded by: None
Crook et al. (Fri,) studied this question.