Many of these inherited cardiac conditions can cause sudden cardiac arrest and death.
Genetic testing has become more accessible but many people still have questions surrounding the topic. Should I have genetic testing? Do I really want to know if I’m at risk? What do I do if I have a gene mutation?
Am I a candidate for genetic testing?
There’s no definitive answer. Genetic testing isn’t for everybody. But it can be highly beneficial for some. Genetic counselors help people decide if testing is right for them and what to do with the results.
Genetic testing can be helpful for expectant mothers as well as people who have a family history or a diagnosis of cancer or heart problems. Celebrities like President Jimmy Carter and actress Angelina Jolie have brought awareness to genetic testing for cancer in recent years. For Jolie, she made headlines when doctors discovered a gene mutation and she took preventative measures to lower her risk for breast cancer and ovarian cancer.
Which cardiac conditions do these tests look for?
I work with individuals who have a personal or family history of heart problems. That can include sudden cardiac arrest or death, aortic aneurysm, irregular heart rhythm (arrhythmia), disease of the heart muscle (cardiomyopathy) and congenital (structural) heart disease. Many of these inherited cardiac conditions can cause sudden cardiac arrest and death. They can affect anyone of any age, including infants and children.
If someone has a personal history of a cardiomyopathy and/or if there is a family history, testing can help determine if there is a genetic or hereditary reason for the condition. Knowing the exact genetic cause in a family can help other family members determine if they too could be at a high risk for developing the condition. This helps the family be prepared with information about appropriate screening and symptoms for faster treatment if necessary.
Testing is not always the right choice for every family. In those cases, we discuss other options; one example is an occasional echocardiogram – an ultrasound of the heart.
The ideal scenario is to start with the patient who has the diagnosis. If a patient with a known condition (like long QT syndrome) has a gene mutation, then first degree relatives (mother, father, siblings, children) have a 50 percent chance to have the same mutation.
How do I know if genetic testing is right for me?
It can be hard to decipher what all of this means and who might benefit from genetic testing. Genetic counselors at WellStar work with individuals – both children and adults – and families to discuss family histories and find patterns of heritable disease. If there’s a compelling reason to test, we discuss what that information could mean and what type of impact it will have on their lives.
Genetic testing is a tool to help people and their families in their pursuit of living the best life possible. It is often covered by insurance. What is known evolves as we learn more over time. And when people have questions, it’s helpful to know that genetic counselors are available close to home.