Testing can help people make treatment choices if they learn they have a genetic condition. At present, many cardiac patients are able to get tested for inherited conditions after they are referred to a specialized genetic clinic. At times, new genetic findings are sought in research studies. However, there is still a long way to go before these tests are routine, which is the case for other diseases like the breast cancer.
For cardiac patients, most patients will have a “new” genetic mutation. The testing process in these cases is expensive and time consuming. Every letter within a gene’s code is carefully reviewed for what is called a “typo” or mistake. A new mutation is much harder to find, if at all. Doctors may also call this a “private mutation” or one that is unique to the patient.
Since most mutations are a new discovery and the disease is rare, a lot of research and time is needed to answer questions about testing for cardiac related genetic disease. Some questions that still need to be answered include “how often can we find this mutation?” and “how many symptoms will be present if the patient has the mutation?”
Like many other tests, genetic screening can raise concerns like getting life insurance and feeling well regardless of what the genes say. Despite all of this, genetic testing can help people make choices when combined with the results of regular clinical testing methods in discussion with their doctor.