Types of Genetic Heart Evaluation

Genetic testing, also known as DNA testing, is currently available for many types of inherited diseases of the heart, blood vessels, and cholesterol and lipids. Testing typically looks at a specific group of genes, using a saliva sample or blood draw.

Stanford doctors, genetic counselors, and other researchers continue to identify new testing targets. Our genetic counselors also contribute to national guidelines on the best way to interpret test results. Interpretation of genetic testing results is challenging and changes over time as experts learn more. Your Stanford genetic counselor will make sure you get an accurate analysis and review of your genetic testing results, with the most current knowledge.

Genetic testing yields three possible results:

• Positive (genetic cause has been found): This result means that the DNA test has found a genetic cause for the heart disease. We will help you understand the significance of the results and what you can do for yourself and your family.
• Negative (genetic cause not been found): The meaning of a negative genetic test result may be different depending on your specific situation.
• Diagnostic testing to find the cause for heart disease in you or your family: If the genetic cause of the heart condition is not already known, a negative result means that the DNA test has not found the cause. It is important to know that there may still be a genetic cause that current testing cannot find yet. If you have signs or symptoms of cardiac disease, you will still need treatment and your family may also still need follow-up testing or treatment. This is because a negative result may mean that doctors and other researchers have not yet identified the gene responsible for your specific heart disease.
• Predictive testing in families when the genetic cause for heart disease is already known: This testing helps family members know whether they have inherited the family risk. A negative result means you do not have the genetic risk, though you may still need some follow-up testing.
• Variant of unknown significance (VUS): Sometimes, testing finds a genetic change, or variant, whose meaning is uncertain. We do not yet have evidence to know if it causes heart disease or not. In addition to their experience and expertise, our genetic counselors dig deep into the research and may consult with other programs. We also guide you through what you need to know about any further steps.