Genetic testing in interstitial lung disease: An international survey

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 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.

Present and future perspectives in early diagnosis and monitoring for progressive fibrosing interstitial lung diseases

“…The future of ILD MDT discussion is likely going to include genetic testing data and input from relevant specialists (i.e., clinical genetics, lung transplant physicians) due to recent discoveries of accelerated progression and worse responses to immunosuppression in patients with familial forms of ILD or sporadic cases with a genetic component (e.g., telomere dysfunction). There is significant support from clinicians, as well as patients and their relatives for genetic testing ( 14 ).…”

Diagnosing interstitial lung disease by multidisciplinary discussion: A review

“…Integration of genetic data into the ILD MDM is yet to be validated, yet research is underway. A recent international survey including 352 respiratory physicians demonstrated support for the use of genetic testing in ILD, predominantly in view of its impact on diagnostic investigation approach and patient treatment, however 88% identified a need for more information on its role and interpretation of results ( 57 ).…”

Towards truly ‘idiopathic’ pulmonary fibrosis

“…Terwiel et al 9 acknowledge the limitations of their study, which was predominantly conducted in European centres. In particular, the anonymized survey responses meant that the magnitude of bias in selection of patients and clinicians, with those more interested in the genetics of ILD naturally more likely to respond, was unable to be evaluated.…”

“…A comprehensive multinational survey published in a recent publication in Respirology by Terwiel and colleagues 9 compiles the responses of 352 pulmonologists and impressively, 639 patients and relatives to a questionnaire concerning ILD genetic testing. The inclusion of clinicians, patients and their relatives makes for fascinating reading.…”

“…The study by Terwiel et al 9 suggests that our patients understand the importance of fully elucidating the cause of a disease if accurate forecasting and rational treatment decisions are to be made and new, more effective treatments developed, even if we as clinicians are not yet there. Terwiel and colleagues make several sensible recommendations that, should they be adopted, will go some way to giving the geneticist and genetic testing its rightful place amongst the pantheon, which currently convenes to discern an ILD diagnosis.…”