Cardiovascular Genetic Testing

What is genetic testing for a cardiovascular condition?

Genetic testing can help diagnose or confirm if your child has a genetic cardiovascular condition. It helps determine if a change in your child’s DNA explains the features of their heart anatomy or their risk for a cardiac condition that is seen in your family. Understanding the genetics of your child’s heart condition can help doctors determine the best treatment and care plan.

Most genetic tests require either a blood sample or a sample from a cheek swab or saliva. Sometimes a genetic test may also involve collecting samples from other family members, such as the child’s parents. There are two common categories of genetic testing in cardiovascular genetics:

Diagnostic genetic testing for a heart condition

This type of testing tries to identify the genetic change in your child that caused their cardiac condition or cardiac features. A confirmed genetic diagnosis allows your child’s cardiovascular care team to create a personalized treatment plan that focuses on that specific heart condition and other health or development concerns for which they may be at risk. If a genetic change is identified in your child, the clinical team can use this information to screen additional family members for the same genetic change to see if they carry the gene change and are at risk for developing the heart condition.

Predictive genetic testing for a heart condition

This type of testing is performed when someone in the family (such as a parent or sibling) has a known genetic change that puts other family members at risk for carrying the same genetic change and developing a cardiac condition. In this instance, predictive genetic testing is performed on a family member who is not known to be affected (asymptomatic) but is at risk for inheriting the known genetic change. If you have a genetic change that caused a cardiac condition, predictive testing will confirm if your child also has that genetic change and is at risk for developing the cardiac condition. It can also confirm if your child does not have the genetic change and is not at increased risk for developing the cardiac condition seen in the family.

What does the term 'genetics' mean?

Genetics refers to the study of genes. But to understand this term, it’s helpful to know a few other definitions first. Everyone has genetic material called DNA (short for deoxyribonucleic acid) that provides our bodies with the instructions on how to grow, develop, and function. DNA is arranged into structures called chromosomes, which come in pairs. Typically, people have 23 pairs of chromosomes (46 chromosomes in all), and one chromosome in each pair is inherited from each parent. Genes are another unit of DNA that are found on our chromosomes. The genetic code of our genes informs the body how to grow and function. Changes in DNA can cause different genetic conditions or medical issues. This may include changes to the amount or structure of chromosomes or a change in the sequence of the genetic code of our genes. Genetic changes can also be called “variants” or “mutations.”

What is cardiovascular genetic counseling?

Boston Children’s Center for Cardiovascular Genetics provides counseling to help you understand a genetic test that may be recommended for you or your child. We will explain the purpose, benefits, risks, and limitations of genetic testing. Genetic testing is always a choice. Our team will provide all the information you need to make that decision. If you decide to have cardiovascular genetic testing, our center helps obtain any necessary insurance authorization prior to testing.

At what age should a child have genetic testing for heart disease?

Genetic testing may be recommended for your child based on their own medical and family history. The age that testing is performed is based on a combination of factors and may be different for each family. For a child who has a known cardiac condition or concern, testing may be performed around the time it is discovered because understanding the genetic cause can help inform their care. In other cases, it might be recommended to perform genetic testing when your child is old enough to participate in the decision-making process about their own health. Meeting with a genetic counselor before you proceed with genetic testing can help you understand the genetic testing that has been recommended for your child.

What are the implications of cardiovascular genetic testing?

Genetic testing can be beneficial to your child and family. For each individual who has genetic testing, results can provide information about their heart condition, best management practices, and other health or development concerns for which they may be at risk. If a genetic cause is identified, other family members who are at risk can also have genetic testing and learn about the chances of passing on a genetic change in future pregnancies. Implications of genetic testing can be discussed with a genetic counselor during a genetic counseling visit.

What are the limitations of genetic testing for heart conditions?

While genetic testing can be useful, it does not always guarantee answers to your questions. Genetic testing can’t always predict how mild or severe someone’s cardiac features may be. A genetic test report does not always have a positive result (a meaningful genetic change was identified). It instead may provide a negative result (no genetic changes were identified) or an uncertain result (a genetic change was identified but its significance or impact on your child’s health is unclear). Genetic testing is improving all the time but testing technology is limited, and there are limitations to what scientists and doctors understand about genetics. These limitations can impact how genetic test results for heart conditions are interpreted.

Will my insurance cover the cost of cardiovascular genetic testing?

The Center for Cardiovascular Genetics seeks insurance authorization for any genetic testing that has been recommended for your child, prior to sample collection. If your insurance approves the recommended testing, the amount you may owe depends on the ordered test as well as insurance plan factors such as the deductible, co-pays, or co-insurance.

Could cardiovascular genetic testing lead to insurance or employment issues?

The federal Genetic Information Nondiscrimination Act (GINA) provides health insurance and employment protections. Health insurers cannot request or use genetic information to make decisions about your coverage, and employers cannot use or request genetic information to make decisions about your employment. However, the law does not apply to life insurance, long-term care, or disability insurance. Some cardiovascular genetic testing results could potentially impact an individual’s ability to get these types of insurance at a later time. Learn about the limitations and caveats to GINA.