Abstract Rationale While the availability and evidence for interstitial lung disease (ILD) genetic testing are increasing, these tests are not yet integrated into ILD clinical practice guidelines. Currently, there is wide variation in global practice of genetic testing in ILD, with no international databases reporting where ILD genetic testing is performed or what tests and services are available. Methods This study was conducted as part of our ongoing Delphi survey, which aims to achieve consensus on best practices for ILD clinical genetics services. During the first round of Delphi statements, specific mapping questions were presented to respondents with experience in ILD-Genetics to determine their level of access to genetic testing for ILD (or current barriers). Results Valid responses included respondents from 47 countries across 6 continents, 169 who had previously requested ILD genetic testing and 60 who had not. Of those who had previously requested genetic testing for ILD, 69.2% had access to ILD-specific gene panels, 55% to telomere length (TL) measurement, 39.6% to whole-exome sequencing and 28.4% to whole-genome sequencing. The most used methods for TL measurement were Flow FISH (54.8%), qPCR (28%) and STELA (7.5%). Respondents had access to DNA testing for telomere-related genes (78.1%), surfactant-related genes (69.2%) and risk alleles (e.g. MUC5B - 55.6%). Testing was requested for clinical care by 70.4% of respondents, and 43.2% had access to biobanks. 43.2% requested testing during longer consultations and 23.1% had a dedicated clinic for familial ILD patients. The majority had access to genetic counselling (77.5%), but only 29% to a Genetics-ILD multidisciplinary meeting (MDM) to interpret results. Of the respondents who never requested ILD genetic testing, 68.3% would do so if they had access to it, and 86.7% would support greater adoption of testing in their country. 90% felt that ILD genetic testing would benefit some of their patients. Reasons for not requesting testing included lack of availability in their centre (60%), uncertainty about which tests to request (31.7%) or logistics (23.3%). For 50% of respondents, lack of funding or insurance coverage was a specific barrier. Conclusions ILD genetic testing is widespread internationally. Future ILD guidelines incorporating genetic testing should consider the variability in access to specific tests, clinical practice settings and relevant services. We will continue to collate information on other centres where ILD genomic testing is performed, to publish a comprehensive global mapping and support clinical pathway development. * Rivera-Ortega P and Corte TJ are co-senior authors. This abstract is funded by: Partly by the European Respiratory Society (ERS)
Stanel et al. (Fri,) studied this question.