The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective from the Pulmonary Fibrosis Foundation Genetic Testing Work Group. Journal Article

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Authors: Newton, CA; Oldham, JM; Applegate, C; Carmichael, N; Powell, K; Dilling, D; Schmidt, SL; Scholand, MB; Armanios, M; Garcia, CK; Kropski, J; Talbert, J
Article Title: The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective from the Pulmonary Fibrosis Foundation Genetic Testing Work Group.
Abstract: Familial pulmonary fibrosis represents a subset of pulmonary fibrosis patients in whom inherited gene variation predisposes to disease development. In the appropriate setting, genetic testing allows for personalized assessment of disease, recognition of clinically relevant extrapulmonary manifestations and assessing susceptibility in unaffected relatives. However currently, the utilization of genetic testing is inconsistent, partly due to the lack of guidance regarding high-yield scenarios in which the results of genetic testing can inform clinical decision-making. To address this, the Pulmonary Fibrosis Foundation commissioned a Genetic Testing Work Group composed of pulmonologists, geneticists, and genetic counselors from the United States to provide guidance on genetic testing in patients with pulmonary fibrosis. This CHEST special feature presents a concise review of these proceedings and reviews pulmonary fibrosis susceptibility, clinically available genetic testing modalities, and clinical scenarios in which genetic testing should be considered.
Journal Title: Chest
ISSN: 1931-3543; 0012-3692
Publisher: Unknown  
Date Published: 2022