{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T13:28:54Z","timestamp":1790688534363,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,6,2]],"date-time":"2022-06-02T00:00:00Z","timestamp":1654128000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and objective<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A clinical epidemiologist (MT) together with members of the ERS taskforce and representatives of the European Idiopathic Pulmonary Fibrosis and related disorders Federation (EU\u2010IPFF) 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>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\u2010up and 57% (137) may change the therapeutic approach.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/resp.14303","type":"journal-article","created":{"date-parts":[[2022,6,2]],"date-time":"2022-06-02T03:27:07Z","timestamp":1654140427000},"page":"747-757","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Genetic testing in interstitial lung disease: An international survey"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6040-6294","authenticated-orcid":false,"given":"Michelle","family":"Terwiel","sequence":"first","affiliation":[{"name":"ILD Center of Excellence St Antonius Hospital  Nieuwegein The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9906-0024","authenticated-orcid":false,"given":"Raphael","family":"Borie","sequence":"additional","affiliation":[{"name":"Service de Pneumologie A H\u00f4pital Bichat, APHP  Paris France"},{"name":"INSERM, Unit\u00e9 1152 Universit\u00e9 de Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Crestani","sequence":"additional","affiliation":[{"name":"Service de Pneumologie A H\u00f4pital Bichat, APHP  Paris France"},{"name":"INSERM, Unit\u00e9 1152 Universit\u00e9 de Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liam","family":"Galvin","sequence":"additional","affiliation":[{"name":"European Idiopathic Pulmonary Fibrosis and Related Disorders Federation  Overijse Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7579-9767","authenticated-orcid":false,"given":"Francesco","family":"Bonella","sequence":"additional","affiliation":[{"name":"Center for Interstitial and Rare Lung Diseases Ruhrlandklinik University Hospital, University of Duisburg\u2010Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurelie","family":"Fabre","sequence":"additional","affiliation":[{"name":"Department of Histopathology, St Vincent's University Hospital &amp; School of Medicine University College Dublin  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Froidure","sequence":"additional","affiliation":[{"name":"Service de Pneumologie Cliniques universitaires Saint\u2010Luc and Institut de Recherche Exp\u00e9rimentale et Clinique, UC Louvain  Bruxelles Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Griese","sequence":"additional","affiliation":[{"name":"Dr. von Hauner Children's Hospital Ludwig\u2010Maximilians University Munich, German Center for Lung Research (DZL)  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan C.","family":"Grutters","sequence":"additional","affiliation":[{"name":"ILD Center of Excellence St Antonius Hospital  Nieuwegein The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerri","family":"Johannson","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Kannengiesser","sequence":"additional","affiliation":[{"name":"INSERM, Unit\u00e9 1152 Universit\u00e9 de Paris  Paris France"},{"name":"Laboratoire de G\u00e9n\u00e9tique H\u00f4pital Bichat, APHP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leticia","family":"Kawano\u2010Dourado","sequence":"additional","affiliation":[{"name":"INSERM, Unit\u00e9 1152 Universit\u00e9 de Paris  Paris France"},{"name":"Pneumologie H\u00f4pital Bichat, APHP  Paris France"},{"name":"HCOR Research Institute Hospital do Coracao  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1852-1723","authenticated-orcid":false,"given":"Maria","family":"Molina\u2010Molina","sequence":"additional","affiliation":[{"name":"ILD Unit, Respiratory Department Bellvitge University Hospital\u2010IDIBELL, CIBERES  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antje","family":"Prasse","sequence":"additional","affiliation":[{"name":"Pneumologie Hannover Hochschule  Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1118-797X","authenticated-orcid":false,"given":"Elisabetta A.","family":"Renzoni","sequence":"additional","affiliation":[{"name":"Royal Brompton and Harefield Clinical Group Guy's and St Thomas' NHS Foundation Trust  London UK"},{"name":"Margaret Turner Warwick Centre for Fibrosing Lung Diseases, NHLI Imperial College  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasper","family":"van der Smagt","sequence":"additional","affiliation":[{"name":"Klinische Genetica University Medical Center Utrecht\/Wilhelmina Children's Hospital  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venerino","family":"Poletti","sequence":"additional","affiliation":[{"name":"Department of Diseases of the Thorax University of Bologna\/GB Morgagni Hospital  Forli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katerina","family":"Antoniou","sequence":"additional","affiliation":[{"name":"Department of Thoracic Medicine University of Crete  Heraklion Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Coline H. 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