What is Cardiac Genetic Testing?

Cardiac genetic testing is a medical examination that looks at our body’s fundamental building blocks – genes – and finds any harmful abnormalities or mutations specifically related to the heart. Simply put, doctors can see if you are more likely to get a certain disease, if your family is at a higher risk to develop a disease you have, or what the right dosage is for a medicine to manage diseases based entirely on what your genes say. Cardiac genetic testing is also minimally invasive, often only needing a blood sample or cheek swab to get highly accurate results. Many cardiac genetic tests are performed at a medical facility like a doctor’s office, but some can be performed from the comfort of your own home!

When Should I Seek Testing?

Your doctor will often recommend cardiac genetic testing if your diagnosis needs further confirmation or if a specific medicine dosage needs to be determined. This recommendation usually comes once you begin showing symptoms of a disease. Alternatively, you might have a family history of a certain cardiac disease. If you are concerned about a possible genetic predisposition to a disease, talk to your doctor to seek testing. A family history of a disease might be a clear sign that you carry the genetic mutation that leads to the disease.

Someone in your family may have gotten a cardiac genetic test at some point. If that result came back positive, you may need to consider getting your own genetic test. Many doctors recommend getting a cascade of genetic tests once a family member tests positive. This helps the medical network isolate who carries the malicious gene and who does not. You may find you have a predisposition to a certain genetic disease you did not previously suspect.

Genetic counselors are also a helpful resource to inform your decision on genetic tests. They are trained to help patients understand which tests to take, the costs and risks of tests, and how to interpret the information presented in a test.

What Types of Tests Are There?

There are several different types of cardiac genetic tests, and some tests that encompass cardiac genetic testing.

• Single-Gene Testing: tests a single gene. Highly accurate and rapid.
• Panel Testing: tests a variety of genes related to one disease. Focused and quick.
• Large-Scale/Genomic Testing: tests all of your genes. Slower, but can find things that focused tests might not.

There are also different ways to take the tests.

• In-office test: a test administered by a medical professional (usually a blood test or stool test)
• At-home test: a self-administered test (usually a cheek swab)

What do Cardiac Genetic Tests Cost?

Generally, the cost of cardiac genetic tests with coverage can run anywhere from $150 to $2000 after health insurance. Larger tests examining more genes will tend to cost more than a focused, single-gene test. Knowing what your insurance covers with genetic testing is crucial to deciding to take a test. Some insurances will cover all or parts of genetic tests, while others like Medicare limit what tests they cover. Preventative tests and screenings are not covered by Medicare, but tests that confirm a diagnosis or pinpoint a drug dosage usually are.

Some Medicare supplements do cover costs of genetic testing.

Cardiac Genetic Test Risks

Genetic tests, while not an invasive method of checking for genetic mutations, do pose some inherent risks. These risks ought to be understood fully before deciding to take a genetic test.

Physically speaking, cardiac genetic tests are very low risk. Most only require a blood sample or a cheek swab in order to get enough testable genetic material. Blood samples will need to be taken at a medical facility like a doctor’s office, but something like a cheek swab is simple enough to perform at home. Many at-home genetic tests utilize this procedure, including Kardia Guard, a leading cardiac genetic test.

There are more risks inherent with the test at an emotional level. Receiving a positive test result can foster feelings of anxiety, anger, sadness, or guilt. If you are considering taking a genetic test not required by your doctor, talk to your doctor or genetic counselor. They will provide valuable insight as to how the results would affect your mental health and wellbeing.

Additionally, some test results will incur a cascade test. If a result is concerning to a medical professional, they will ask direct relatives to get genetically tested in sequence. The goal of cascade testing is to determine who in your family carries the mutated gene. This might cause the emotional risks previously mentioned to affect family members beyond the person initially tested.

Finally, there may be a cost penalty to taking a genetic test. While there is likely an initial pay of $150 to $2000 for the test itself, there are possibly hidden costs to the decision. If the test returns a positive result, you might need further medical testing or treatments. A positive result might also result in other close family members needing the same test, further enhancing the financial burden. Additionally, most tests will require a doctor or genetic counselor to interpret the results.

Legally speaking, no health insurance agency or employer will be able to change your premium or employment status based on the findings of a genetic test. This right is protected by the Genetic Information Nondiscrimination Act. However, this act may not apply to other insurance policies, like life or retirement insurance.

What diseases does the test look for?

Cardiac genetic tests examine genes related to heart diseases for any deviations from standard genes. These deviations, called mutations, are what influence heart disease. Mutated genes can be passed from parent to child. If a child has the gene, they will have a higher chance to contract the disease. These are called inherited heart diseases, genetic heart diseases, or hereditary cardiac conditions. Inherited genetic diseases are not always guaranteed from the presence of a mutated gene. Some genetic diseases are affected by the environment, and can be prevented. Some common examples include:

• Familial Hypertrophic Cardiomyopathy
• Familial Dilated Cardiomyopathy
• Familial Hypercholesterolemia
• Arrhythmogenic Right Ventricular Cardiomyopathy
• restrictive Cardiomyopathy
• Long QT Syndrome
• Brugada Syndrome
• Catecholaminergic Polymorphic Ventricular Tachycardia
• Short QT Syndrome
• Marfan Syndrome
• Sudden Arrhythmic Death Syndrome (SADS)

Sudden Arrhythmic Death Syndrome is of important note here. It does not have any outward signs that it might strike. If someone in your family unexpectedly had a near-death or deadly heart incident, the genes might be the cause. Cardiac genetic testing is capable of functioning as an early warning sign for Sudden Arrhythmic Death Syndrome.

Watch a video on at-home cardiac genetic testing

How to Choose a Genetic Counselor?

The easiest way to find a genetic counselor in your area is to ask your doctor for a referral. Any knowledgeable doctor should know counselors in your area, some of which might specialize in cardiac genetic tests.

Your insurance company may also have recommendations for covered genetic counselors and testing sites in your area. Any referral through an insurance company increases the odds that the professional participates in the coverage plan.

There are several online organizations dedicated to helping patients find quality genetic counselors. Some of these include

• The Genetic and Rare Diseases Information Center
• The American College of Medical Genetics and Genomics 
• The American Board of Genetic Counseling