Is Genetic Testing for Heart Disease Worth It?

Genetic heart testing looks at your DNA, usually from a blood or saliva sample, for changes (called variants) that are linked to certain heart conditions. These can include inherited rhythm disorders, heart muscle conditions, very high cholesterol that runs in families, and some conditions affecting the aorta. Some tests look at a few genes, and others look at many at once.

A genetic test shows risk or carrier status. It does not diagnose heart disease on its own. Results have to be read alongside your personal and family history, a physical exam, imaging, and bloodwork by a qualified cardiologist, electrophysiologist, or genetic counselor.

Results can come back in a few ways. A variant may be identified as disease-causing, or a result may be negative, or it may be a variant of uncertain significance, which means experts don't yet know what it means. A variant of uncertain significance is not a diagnosis. A negative result also doesn't rule out risk, because not every cause of heart disease is known or captured by a test.

Traditionally, genetic testing has been considered for people with a heart condition that is known to run in families, or for people whose relatives have had unexplained heart problems at a young age. It has also been used when a clinical evaluation points toward an inherited condition. Many people with common heart disease never need it.

Heart care has long relied on family history, symptoms, blood pressure, cholesterol and other bloodwork, electrocardiograms, and imaging. Genetic testing has typically been added to that picture only when a clinician thinks it could add useful information. Whether it is appropriate is a decision for a licensed clinician after an evaluation.

When a disease-causing variant is found in one person, relatives are sometimes offered testing for that same variant. This is called cascade, or family, testing. Genetic counseling is traditionally recommended both before and after testing so people understand what results could and couldn't mean.

The right cardiologist may help you sort out whether testing fits your situation. A first visit often involves talking through your symptoms, your own health history, and who in your family has had heart problems, and what age. You may be asked to bring any relatives' records you can gather. The cardiologist may also suggest an exam, imaging, or bloodwork, and may refer you to a genetic counselor.

Questions worth asking include: Why might testing be useful for me, and what question would it answer? What might the results change, and what might they not change? What happens if the result is negative or uncertain? Would my relatives be affected by my results, and how would they be told?

It's also reasonable to ask about privacy and insurance before you test. In the US, GINA protects against genetic discrimination in health insurance and employment, but it does NOT cover life, disability, or long-term-care insurance. Ask about those first. Coverage for testing varies by insurer, state and diagnosis, so confirm with your insurer and provider. Genetic counselor licensing also varies by state.