[SCD-FORUM] EXPERTS ASK, EXPERTS ANSWER

[Maria Isabel Ayala]

Dr. Leonid Makarov from Russia asks

- What patients have indication for molecular genetic studies? In the case of detection of genetic mutations, characteristic for short or long QT syndrome, Brugada syndrome, Arrhythmogenic Right Ventricular Dysplasia, would it be ethical to inform all patients about these findings?

Dr. Alejandra Guerchicoff, Dr. Guido D. Pollevick and Dr. Charles Antzelevitch answer
- Genetic tests are done to confirm a suspected diagnosis in a proband with clinical signs and symptoms of the disease, to predict the possibility of future illness in family members, to detect the presence of a carrier state in unaffected individuals (whose children may be at risk), and to predict the response to therapy or qualify a patient for gene-specific therapy, particularly in syndromes such as long QT syndrome. Genetic testing is also critically important to advancing research aimed at better diagnosis and treatment of the syndrome. Genetic tests involving the channelopathies you mention are best done under the supervision of an electrophysiologist, ideally with the assistance and support of a certified genetic counselor. 
Receiving test results can be an emotional experience and the collaboration of the physician with a genetic counselor can help guide the patient and his/her family through a difficult time and assist with decisions as to whether extend the test to other family members. 
Privacy issues are paramount in any discussion involving notification of patients of the results of genetic testing. All patients tested must give informed consent before the test can be carried out. In so doing, they can elect to be notified of the results or not. Their individual rights must be respected. Most countries have laws that protect the privacy of individuals undergoing genetic testing, preventing release of the results to anyone without specific, written consent from the patient.