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 |