Genetic testing in interstitial lung disease: An international survey
Terwiel, Michelle; Borie, Raphael; Crestani, Bruno; Galvin, Liam; Bonella, Francesco; Fabre, Aurelie; Froidure, Antoine; Griese, Matthias; Grutters, Jan C.; Johannson, Kerri; Kannengiesser, Caroline; Kawano-Dourado, Leticia; Molina-Molina, Maria; Prasse, Antje; Renzoni, Elisabetta A.; van der Smagt, Jasper; Poletti, Venerino; Antoniou, Katerina; van Moorsel, Coline H.M.
(2022) Respirology, volume 27, issue 9, pp. 747 - 757
(Article)
Abstract
Background and objective: Genetic 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. Methods: A clinical epidemiologist (MT) together with members
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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. Results: Survey 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. Conclusion: This 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.
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Keywords: experience, familial ILD, familial pulmonary fibrosis, genetic testing, international survey, interstitial lung disease, needs, patient, perceptions, pulmonologist, relative, Genetic Testing, Humans, Pulmonologists, Lung Diseases, Interstitial/diagnosis, Surveys and Questionnaires, Idiopathic Pulmonary Fibrosis/diagnosis, Pulmonary and Respiratory Medicine, Journal Article, Research Support, Non-U.S. Gov't
ISSN: 1323-7799
Publisher: Wiley-Blackwell
Note: Funding Information: This international survey on genetics in ILD was a collaborative initiative of the ERS taskforce on genetics in ILD together with the EU-IPFF patient organization. Special thanks to Steve Jones (patient and President EU-IPFF), Anne Jose Schimmel (coordinator of the Dutch pulmonary fibrosis patient foundation) and Samantha Nier (project manager at EU-IPFF). We want to thank many others from outside the taskforce and these patient societies for their contribution: (i) Evaluating the survey questions, and spreading it among pulmonologists patients and relatives: Prof. Dr Marjolein Drent (St Antonius), Sebastiaan Wendt (specialized ILD nurse, St Antonius), Angela Schoemaker (clinical counsellor, UMC Utrecht) and Joanne van der Vis (technician, St Antonius); (ii) Translating the survey in French: Cécile Guerin (genetic counsellor, Hopital Bichat); Spanish: Montse Janssen Bonás (PhD candidate, St Antonius), German: EU-IPFF; and Greek: Katerina Markopoulou (University Crete) and Dr Argyrios Tzouvelekis (University Crete). Finally, we thank our REDCap administrator Simone van der Kleef (St Antonius) for her support with REDCap management. Research funding: This study was supported by the Dutch Pulmonary Fibrosis Foundation. Funding Information: : This study was supported by the Dutch Pulmonary Fibrosis Foundation. Research funding Publisher Copyright: © 2022 Asian Pacific Society of Respirology.
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