Genetic counselling and genetic testing are valuable additions when managing individuals and families with inherited cardiac conditions. Cardiovascular conditions which can be inherited include cardiomyopathy and inherited arrythmias such as Long QT syndrome. Patients and families who are suspected of having an inherited cardiac condition may benefit from a genetic consultation to determine whether there is an underlying genetic basis for disease in their family. Identifying a genetic cause can improve diagnostic accuracy and in some cases guide management and treatment of symptoms. One of the biggest benefits of genetic testing is to identify families where predictive genetic testing can be offered to asymptotic at-risk relatives. This has the potential to allow for earlier diagnosis in family members and the possibility of offering life-saving treatments.
A genetic consultation will involve (1) obtaining a detailed family history to identify families who will benefit from genetic testing, (2) selecting the right person in the family to test, (3) identifying the appropriate genes to test, (4) understanding and interpreting the result, and (5) effectively communicating the result and implications to the patient and family.