Genetic Testing in Interstitial Lung Disease: Potential Benefits and Unintended Risks

AbstractPurpose of ReviewThis review aims to summarize the recent evidence supporting the role of genetic testing across the spectrum of interstitial lung diseases and identifying barriers and unintended risks of genetic testing.Recent FindingsThere is increasing interest among patients and their relatives in pursuing testing and no significant negative psychological impact of testing has been  identified. Specific group of individuals who would most benefit from genetic testing (younger age at diagnosis, familial pulmonary fibrosis, features of short telomere syndrome, Hermansky-Pudlak syndrome, and relatives of individuals with known pathogenic genetic variants) and those who would li kely not benefit from testing have been recently addressed. Gene sequencing can be used to identify known pathogenic variants in the surfactant-related genes and telomere-related genes. Peripheral blood leukocyte telomere length measurement may be of prognostic value and evidence for using this to g uide clinical decision-making is evolving. Practical aspects like cost and availability of genetic testing are major barriers to genetic testing in the USA.SummaryThough genetic testing is not currently a part of routine clinical practice, there is a role for testing in specific situations. Future research should focus on how the results of genetic testing can guide clinical decision-making in pulmonary fibrosis.
Source: Current Respiratory Care Reports - Category: Respiratory Medicine Source Type: research