The short answer is yes and no. Your doctor should have some appreciation of the indications and limitations of genetic tests can help to insure that they are used to maximum benefit.

Coronary artery disease is the leading cause of death in the world, affecting 13,000,000 people in the U.S. alone. As such, it is a major public health concern, and significant efforts have sought to reduce the mortality and morbidity associated with CAD. These efforts have focused primarily on modification of environmental and behavioral risk factors, including sedentary lifestyle, smoking, obesity, and high-fat diet. Modifying these behaviors is extremely important, and has been shown to reduce cardiovascular mortality and morbidity. Nonetheless, family history remains the single strongest independent risk factor for development of CAD. However, in most cases this risk cannot be determined more precisely. The information gained through a detailed family history does not identify specific interventions to limit risk, nor can it assist in determining a treatment plan. Thus, identification of specific genetic risk factos is essential for more precise risk determination, as well as individualization of therapy. Testing for such factors will be beneficial not only for those with a positive family history, but also could benefit healthy individuals with no family history. Although such uses of genetic tests are not currently available, the pace of discovery promises clinically useful tests in the near future.

For individuals already affected by CAD, identifying the genetic basis might permit a particular therapy that targets the specific pathogenic mechanism underlying atherogenesis. Along these lines, research for 2 genes, ALOX5APencoding arachindonate 5-lipooxygenase–activating protein, or FLAP, and leukotriene A4 hydrolase, now show promise for more specific therapies.


At present, there are no commercially available genetic tests for variants associated with CAD or MI that are recommended for routine care. Several academic medical centers are currently offering clinical trials for families or individuals at elevated risk for CAD or MI to help further elucidate useful gene or protein targets for risk stratification or pharmacogenetic approaches to care.

Testing is available for FH (familial hypercholesterolemia) specifically targeting the LDLR gene by DNA-sequencing and Apo-B by mutation analysis. Genotypic-positive individuals should still be managed based on routine cholesterol assays and cholesterol guidelines; however, the likelihood for required multiple drug therapy is elevated. Patients and families affected by FH may benefit from genetic testing by providing early screening for the phenotypic appearance of elevated cholesterol levels and risk-factor modification before the onset of disease. 



Our FREE SERVICE is designed to EDUCATE consumers about new technology and science, EQUIP them with resources and tools to ENGAGE fully in their health care decisions along with their primary care provider and healthcare team! KNOWLEDGE IS POWER and Genetic Testing may help provide life saving knowledge!





Trending Topics
About Author

Dr. Drew Sutton