Genetic testing in interstitial lung disease: An international survey

• DOI: 10.1111/resp.14303
• Publication Date: 2022-06-02T07:27:07Z
• Authors: Michelle Terwiel; Raphael Borie; Bruno Crestani; Liam Galvin; Francesco Bonella; Aurelie Fabre; Antoine Froidure; Matthias Griese; Jan C. Grutters; Kerri Johannson; Caroline Kannengi...; Leticia Kawano‐Do...; Maria Molina‐Molina; Antje Prasse; Elisabetta A. Ren...; Jasper van der Smagt; Venerino Poletti; Katerina Antoniou; Coline H. M. van ...
• Keywords: Pulmonary and Respiratory Medicine; Medizin; genetic testing; perceptions; 03 medical and health sciences; experience; 0302 clinical medicine; Lung Diseases, Interstitial/diagnosis; Surveys and Questionnaires; international survey; Journal Article; Humans; Genetic Testing; pulmonologist; needs; interstitial lung disease; Idiopathic Pulmonary Fibrosis/diagnosis; familial ILD; Research Support, Non-U.S. Gov't; familial pulmonary fibrosis; Idiopathic Pulmonary Fibrosis; 3. Good health; relative; Pulmonologists; patient; Lung Diseases, Interstitial

AbstractBackground and objectiveGenetic analysis is emerging for interstitial lung diseases (ILDs); however, ILD practices are not yet standardized. We surveyed patients', relatives' and pulmonologists' experiences and needs on genetic testing in ILD to evaluate the current situation and identify future needs.MethodsA clinical epidemiologist (MT) together with members of the ERS taskforce and representatives of the European Idiopathic Pulmonary Fibrosis and related disorders Federation (EU‐IPFF) patient organisation developed a survey for patients, relatives and pulmonologists. Online surveys consisted of questions on five main topics: awareness of hereditary ILD, the provision of information, genetic testing, screening of asymptomatic relatives and clinical impact of genetic analysis in ILD.ResultsSurvey respondents consisted of 458 patients with ILD, 181 patients' relatives and 352 pulmonologists. Most respondents think genetic testing can be useful, particularly for explaining the cause of disease, predicting its course, determining risk for developing disease and the need to test relatives. Informing patients and relatives on genetic analysis is primarily performed by the pulmonologist, but 88% (218) of pulmonologists identify a need for more information and 96% (240) ask for guidelines on genetic testing in ILD. A third of the pulmonologists who would offer genetic testing currently do not offer a genetic test, primarily because they have limited access to genetic tests. Following genetic testing, 72% (171) of pulmonologists may change the diagnostic work‐up and 57% (137) may change the therapeutic approach.ConclusionThis survey shows that there is wide support for implementation of genetic testing in ILD and a high need for information, guidelines and access to testing among patients, their relatives and pulmonologists.