Heart Disease Diagnosis

How do genetic tests for heart disease work?

A Answers (1)

  • Genetic testing is not recommended to try to assess risk for coronary artery disease, the acquired adult form of heart disease that leads to heart attack. Genetic tests are not available for all forms of congenital heart disease. Your cardiologist can help you determine if you are a good candidate.

    Another developing areas in genetic testing is that of identifying patients who may not respond well to certain medications, such as antiplatelet drugs. These patients are called poor metabolizers for that medication - that is, their bodies do not process the medication as would be expected due to genetic variations in the enzyme responsible for processing the medication. Poor metabolizers for certain drugs can be identified through a genetic test. The commonly prescribed antiplatelet medication clopidogrel (Plavix) is one example of a medication for which genetic testing can identify poor metabolizers. The value of genetic testing in a routine fashion to identify poor metabolizers is still unknown.

    For genetic tests for heart disease, a blood sample is sent to a lab where a scientist analyzes the DNA in the blood, which contains genetic information. The scientist looks for information patterns in and around the genes called “markers.” If someone has a particular marker that is known to be associated with a disease, that person should carry a specific gene. Presence of a gene that is associated with a disease only indicates that the person being tested may be predisposed to have that disease. It does not necessarily mean that the person will develop the disease.

    If you choose to pursue genetic testing, it is important to do so through a validated laboratory in the context of trained genetic counseling and experienced cardiovascular physicians, who can explain the results and place them in the context of your future cardiovascular care.
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