How to Interpret Results of Genetic Testing and Counsel Families

摘要

The human genome project has facilitated the identification of disease-causing genes and has promoted the introduction of DNA screening in clinical medicine. The application of molecular diagnostics to patient management has generated the need to design novel models of care for patients with inherited diseases. A specific educational track to train arrhythmologists in clinical electrophysiology is needed. This article discusses the complexity of the interpretation of genetic testing in long QT syndrome. The challenges that are present in the interpretation of genetic results and the tools that may overcome the hurdle posed by unknown DNA variants are also discussed.