Psychological impact of genetic and clinical screening for pulmonary fibrosis on asymptomatic first-degree relatives of affected individuals

Carmichael, Nikkola; Manzano, Jose Manuel Martinez; Quesada-Arias, Luisa D; Poli, Sergio; Baumgartner, Maura Alvarez; Ferretto, Maria A Planchart; Digianni, L.; Gampala-Sagar, S.; Leone, Dominick; Gulati, Swati; El–Chemaly, Souheil; Goldberg, Hilary J.; Putman, Rachel K.; Hatabu, Hiroto; Rosas, Iván O.; Hunninghake, Gary M.; Raby, Benjamin A.

doi:10.1136/thoraxjnl-2020-216244

Cited by 11 publications

(9 citation statements)

References 7 publications

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“…25 It has been shown that most relatives of patients with pulmonary fibrosis have no major concerns with screening for early disease by means of genetic testing. 27 However, if relatives received abnormal imaging or pulmonary function test results, more regret and other negative feelings were experienced. 27 Thus, appropriate counselling, but also expert medical advice are of crucial importance.…”

Section: Discussionmentioning

confidence: 99%

“…27 However, if relatives received abnormal imaging or pulmonary function test results, more regret and other negative feelings were experienced. 27 Thus, appropriate counselling, but also expert medical advice are of crucial importance.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, it is interesting that potentially modifiable risk factors for ILA were detected as well, such as self‐reported exposure to mould, birds, lead and aluminium smelting 25 . It has been shown that most relatives of patients with pulmonary fibrosis have no major concerns with screening for early disease by means of genetic testing 27 . However, if relatives received abnormal imaging or pulmonary function test results, more regret and other negative feelings were experienced 27 .…”

Section: Discussionmentioning

confidence: 99%

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Genetic testing in interstitial lung disease: An international survey

et al. 2022

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Genetic testing in interstitial lung disease: An international survey

et al. 2022

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“…This impact may not always be negative, and in fact some patients may be relieved by knowing their genetic status. Encouragingly, Carmichael et al 80 found that relatives of patients with pulmonary fibrosis who underwent clinical and genetic screening did not experience excessive decisional regret, but there are still many unknowns about the potential psychological ramifications of genetic testing that require exploration. Given the nuances and potential pitfalls of genetic testing, we recommend referring patients with FPF to certified genetic counselors who can offer invaluable insight through pretesting counseling, choosing the appropriate genetic test, interpreting the results, and providing posttesting counseling to patients and their relatives.…”

Section: Clinical Genetic Testing Considerationsmentioning

confidence: 99%

Familial Pulmonary Fibrosis

Zhang

Newton

2021

Chest

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“…There are many reasons why the identification of causative TCG variants in patients with IPF is important from a clinical standpoint. Firstly, it offers the possibility of genetic counseling [22,25]. Secondly, it influences the prognosis [26,27] (i.e., after lung transplantation) and can have an impact on treatment decisions [28,29] (i.e., treatment adjustments after lung transplantation).…”

Section: Introductionmentioning

confidence: 99%

Utility of Telomerase Gene Mutation Testing in Patients with Idiopathic Pulmonary Fibrosis in Routine Practice

Šelb

Osolnik

Kern

et al. 2022

Cells

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Recent studies have suggested that causative variants in telomerase complex genes (TCGs) are present in around 10% of individuals with idiopathic pulmonary fibrosis (IPF) regardless of family history of the disease. However, the studies used a case-control rare variant enrichment study design which is not directly translatable to routine practice. To validate the prevalence results and to establish the individual level, routine clinical practice, and utility of those results we performed next generation sequencing of TCGs on a cohort of well-characterized consecutive individuals with IPF (diagnosis established according to ATS/ERS/JRS/ALAT guidelines). Of 27 IPF patients, three had a family history of idiopathic interstitial pneumonia (familial IPF) and 24 did not (sporadic IPF). Pathogenic/likely-pathogenic variants (according to American College of Medical Genetics criteria) in TCG were found in three individuals (11.1%) of the whole cohort; specifically, they were present in 2 out of 24 (8.3%) of the sporadic and in 1 out of 3 (33.3%) of the patients with familial IPF. Our results, which were established on an individual-patient level study design and in routine clinical practice (as opposed to the case-control study design), are roughly in line with the around 10% prevalence of causative TCG variants in patients with IPF.

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Psychological impact of genetic and clinical screening for pulmonary fibrosis on asymptomatic first-degree relatives of affected individuals

Cited by 11 publications

References 7 publications

Genetic testing in interstitial lung disease: An international survey

Genetic testing in interstitial lung disease: An international survey

Familial Pulmonary Fibrosis

Utility of Telomerase Gene Mutation Testing in Patients with Idiopathic Pulmonary Fibrosis in Routine Practice

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