Pharmacogenomics & Cardiovascular Outcomes

Wohlgemuth, Jay, M.D.
Vice President, Science and Innovation
Quest Diagnostics
Also by this Author 

The study of how an individual’s genetic inheritance affects his or her body’s response to drugs is an important advance in cardiology related to pharmacogenomics. Pharmacogenomic tools can be very useful, but knowing how these tools are best utilized, how to interpret and apply test results, and the significance of each allele and its mutations, are all critical to optimal patient management.

Given the high prevalence of cardiovascular disease and the large numbers of patients using cardiovascular drugs, pharmacogenomics has the potential to improve health outcomes. A recent example is the black box warning for the drug clopidogrel (PLAVIX®). It highlights an important issue, but does not on its own provide sufficient guidance for physicians regarding how best to proceed.

A new CYP2C19 gene mutation, the *17 variant, adds more complexity to the evaluation of clopidogrel therapy. The CYP2C19 *17 allele is associated with the ultra-rapid (hyperextensive) metabolizer phenotype for the drug clopidogrel. It has also been shown to lead to enhanced response to clopidogrel and increased risk of bleeding. Individuals with *17 allele have increased enzyme activity, leading to an increased platelet response to clopidogrel and an increased risk of bleeding.