Genetic Testing in Cardiology Frequently Asked Questions

As medical advances progress, more and more people are interested in genetic testing for diseases, including heart conditions. Genetic testing and counseling can be important tools to understand and care for your family's cardiovascular health. Lurie Children's expert genetic counselors, Sara Cherny, MS, CGC, Sarah C. Jurgensmeyer, MS, CGC, and Angelique Mercier, MS, CGC, answer some of the most frequently asked questions about genetic testing in cardiology.

What is genetic testing? 

An important component of our body’s makeup is our genetic material, such as deoxyribonucleic acid (DNA), which carries the code for how we grow and develop. We all have variants in our genes, some are inherited from parents, and some are brand-new, called de novo variants. Genetic testing or screening is a process that examines an individual’s genetic material for specific, unique changes or variations. The results can be used to diagnose genetic disorders or identify individuals at risk of passing on certain health conditions to their children, such as cardiac arrhythmias or changes to the heart muscle or heart vessels. 

Who should get genetic testing? 

Heart conditions may be due to an underlying genetic cause. Meeting with a genetic counselor and learning about genetic testing for heart disease might be recommended for your family depending on the specific type of heart disease diagnosed in your child and/or other family members.  

If you are considering genetic testing, speak to a genetic counselor. They can answer your questions, help you understand the risks and benefits of testing, and support you through the process. 

How is genetic testing done? 

You will provide a sample, such as blood or a cheek swab, from which your genetic information can be analyzed in a laboratory. The results take several weeks to come back. You will have the opportunity to discuss your test results with your provider and ask any question that comes to mind. 

Learn more about genetic testing for heart disease below:

What does genetic testing find? 

There are generally three kinds of genetic test results.  

The first is a pathogenic variant, which is associated with one or more health conditions. In this case, genetic testing can be offered to other family members, through cascade testing, to determine who may be at risk for heart disease. 

Other times, a test result finds variants that may or may not be associated with a disease. These are called variants of uncertain significance (VUS). Our understanding of these variants may change over time, so further research may be needed to determine whether this variant is associated with an increased risk of a specific (cardiac) condition. 

A negative result is when no genetic variants of interest are identified. This type of result can be reassuring but does not always completely rule out the possibility of a genetic contributor to heart disease. 

Learn more about what to expect during genetic counseling.

What is cascade genetic screening? 

Cascade genetic screening is a process that offers genetic counseling and testing to blood relatives of someone who has a positive genetic test result. This identifies individuals who may be at risk of developing the same condition so that they can take steps to prevent or manage the disease. Cascade screening is a great way to make sure every family member is provided with timely and complete care.  

Learn more about cascade genetic screening below:

Genetic testing is a powerful tool that can be used to improve our understanding of human health and disease. It is also important to discuss the benefits and limitations of genetic testing, as well as the results with a genetic counselor or other healthcare professional to understand how they may impact your and your family’s health.

Find out more about Lurie Children’s Genetic Counseling

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