Genetic Testing

Overview

The medical field is constantly evolving. This is especially true in the world of genetic testing. Currently, genetic tests are available and recommended for a limited number of medical conditions, though more tests are becoming available each year. Genetic testing isn’t recommended to assess the risk for coronary artery disease (CAD), the acquired adult form of heart disease that leads to a heart attack. However, suppose you’re an adult born with a heart defect (congenital heart disease [CHD]), and you’re interested in having children. In that case, genetic testing can help assess the risk of your child inheriting that condition. Genetic tests are not available for all forms of congenital heart disease—your cardiologist can help you determine if you’re a good candidate.

Another developing area in genetic testing is 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 don’t 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 clopidogrel (Plavix) is one example of a medication for which genetic testing can identify poor metabolizers. The value of routine genetic testing to identify poor metabolizers is still unknown.