Skip to main content
. 2022 Mar 23;162(2):394–405. doi: 10.1016/j.chest.2022.03.023

Table 2.

Clinical Scenarios in Which Clinicians May Consider Genetic Testing and the Potential Yield for Identifying a Variant

Clinical Scenario Consider Testing and Potential Yield for Variant
Patient with pulmonary fibrosis with family history of pulmonary fibrosis Yes, high yield
Patient with pulmonary fibrosis (sporadic or familial) with personal or family history of telomeropathy manifestations Yes, high yield
Syndromic presentations (short telomere syndrome, Hermansky-Pudlak syndrome) Yes, high yield
Targeted testing in unaffected family members (> 18 y of age) of proband with known pathogenic variant in disease-causing gene Yes, high yield
Young age at PF onset (< 50 y) Yes, low yield
Personal or family history of coexistent pulmonary fibrosis with lung adenocarcinoma Consider, low yield
Sporadic pulmonary fibrosis with no suggestive extrapulmonary manifestations Not currently recommended
Unaffected relative if proband has not undergone genetic testing, or recent comprehensive testing showed negative results for disease-causing variant Not currently recommended
Common variants in sporadic pulmonary fibrosis (eg, MUC5B) Not currently recommended
Evaluation before lung transplantation Not currently recommended