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Genetic testing for inherited heart conditions: About this test

Genetic Testing for Inherited Heart Conditions

About this test

Genetic testing can help your healthcare team understand if a heart condition has a genetic cause. There are many heart conditions where genetic testing may be helpful. These include some heart muscle diseases (cardiomyopathy), heart rhythm problems (arrhythmia), and familial hypercholesterolemia.

What is a gene?

Genes are the instructions that tell your body how to develop and function. They are like a recipe for making cookies or the blueprints for a house.

You have 2 copies of almost every gene. One copy comes from the egg and one from the sperm that formed you. There are many genes that are important for heart health.

What is genetic testing for inherited heart conditions?

Genetic testing for inherited heart conditions looks at your genes to see if there are any differences that may disrupt the gene and cause health concerns. These differences are called pathogenic (or disease-causing) variants.

To do a genetic test for inherited heart conditions, a lab will take a sample of blood. In Alberta, there is no cost to you for this test. It may take several months to get the results. Your healthcare provider will make a plan with you for how you will get the results.

What type of results could I get?

  • Positive result (pathogenic variant): A positive result means that a genetic cause is found for your heart condition. Sometimes, knowing the genetic cause can lead to a specific treatment. More often, a positive result does not change recommendations for your medical care. In most cases, it provides information on how the condition may be passed down in your family and can be a useful screening tool for your relatives.
  • Negative or uninformative result (no variant detected): A negative or uninformative result means that the test did not find a genetic cause for your heart condition. Because this test does not check for every possible genetic condition, certain screening tests may still be recommended to your relatives. Although our understanding of genetics is growing every day, there are limitations to what is known at this time.
  • Uncertain result (variant of uncertain significance): An uncertain result means that a genetic difference was found that is not well understood. It may or may not explain your heart condition. If you have an uncertain result, your healthcare team will discuss possible next steps to try to better understand this result.
  • Complex result: There are several types of complex results. A complex result can mean that the test found more than 1 genetic difference. A complex result may also identify a syndrome. A syndrome is a collection of health concerns due to the same cause. In these cases, you may need more tests or be referred to a specialist. Complex results are rare.

What do my test results mean for my family?

  • Positive result (pathogenic variant): If the test finds a genetic cause for your heart condition, your biological family members will have the option to get genetic testing. Family members who test positive for the variant will need ongoing screening. Family members who test negative for the variant do not typically need ongoing screening. Genetic counsellors can help your family members decide if genetic testing is right for them.
  • Negative or uninformative result (no variant detected) or uncertain result (variant of uncertain significance): If the test does not find a genetic cause for your heart condition, genetic testing for family members is usually not available. Ongoing heart screening may be suggested for your biological family members.
  • Complex result: If the test finds a complex result, your healthcare team will provide advice based on the specific result.

What do my test results mean for life insurance?

Because genetic testing can tell you information about your health, it may bring up questions regarding life insurance. There is currently a law in Canada that provides some protection. For example, an application for life insurance should not ask about genetic results. However, the application may ask about medical conditions or other (non-genetic) medical test results for you and your close biological relatives.

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Current as of: November 27, 2023

Author: Clinical and Metabolic Genetics Program, Alberta Health Services

This material is not a substitute for the advice of a qualified health professional. This material is intended for general information only and is provided on an "as is", "where is" basis. Although reasonable efforts were made to confirm the accuracy of the information, Alberta Health Services does not make any representation or warranty, express, implied or statutory, as to the accuracy, reliability, completeness, applicability or fitness for a particular purpose of such information. Alberta Health Services expressly disclaims all liability for the use of these materials, and for any claims, actions, demands or suits arising from such use.