Genetic Screening for Brugada and Long QT Syndromes Is of No Value

In an unselected population, genetic screening was inaccurate and did not find clinical disease.

Many people hope that genetic screening will allow for the early diagnosis and thus treatment of diseases, and it seems intuitive that genetic syndromes would be easily diagnosed with population screening. The current researchers examined the effectiveness of screening in an unselected population for variant alleles associated with two of the more common genetic syndromes in cardiology, long QT syndrome (LQTS) and Brugada syndrome.

Participants were drawn from a cohort of patients recruited for nonantiarrhythmic drug exposure. Testing of SCN5A and KCNH2 was performed by one academic and two commercial laboratories, without knowledge of clinical phenotypes. Results were correlated with electronic medical records (median follow-up, 18 years), …

Reviewing Author

Mark S. Link, MD

Disclosures

Editorial BoardsCirculation; UpToDate

Mark S. Link, MD

Disclosures

Editorial BoardsCirculation; UpToDate

Genetic Screening for Brugada and Long QT Syndromes Is of No Value

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Reviewing Author