Genetic Testing and Counseling

Genetic testing and genetic counseling can be valuable tools when evaluating patients, and their family members, for channelopathies (Long QT Syndrome, CPVT, Brugada). The genetic changes that cause some channelopathies may even guide your cardiologist or electrophysiologist (cardiologist who specializes in heart rhythm conditions) to choose one specific medication.  If a known disease-causing genetic mutation (change in the gene’s sequence or pattern) is found in a patient, it can help direct future testing in other family members to determine their risk of developing the disease.

While genetic testing is valuable in both diagnosis and prognosis, it has limitations as well. Sometimes, a genetic change may be found that has not been shown to be disease-causing, but also has not been found to be harmless. In addition, a genetic defect may be present but it is not able to be detected with current testing. Genetic testing is expensive, especially during the initial evaluation, because many genes may need to be tested. These costs may or may not be covered by a patient’s medical insurance. Finally, testing may take weeks to months to complete, and this waiting period can be very stressful for patients and their families.

The decision about whether or not to do genetic testing is best made after thoughtful discussion with your healthcare team.