Pharmacogenomic testing in cardiovascular care requires integrated evidence-based medicine to realize the full benefit of informed drug therapies.
Preemptive pharmacogenomic testing can impact patient care and drug therapy across multiple care teams, but the potential in cardiovascular care is uniquely significant. The use of pharmacogenomic testing, specifically in cardiology, has moved forward and grown in recent years due to:
- A decrease in testing costs
- An increase in implementation efforts
- Improvement in clinical decision support tools
Of the many cardiovascular therapies available, the strongest evidence supporting the clinical use of pharmacogenomics is with antiplatelets, anticoagulants, and statins. Pharmacogenomic testing is emerging as a key factor in improving patient outcomes, especially when drug-gene associations with actionable data are included in provider alerts throughout clinical settings.
Last year the American Heart Association noted in a scientific statement, “Evidence supports testing for CYP2C19 variants, including the loss-of-function *2 and *3 alleles and the gain-of-function *17 allele, in patients with acute coronary syndrome (ACS) or percutaneous coronary intervention (PCI) prior to initiating clopidogrel therapy.
Optimizing effective cardiovascular drug therapies can have global impact
As the burden of cardiovascular disease grows, so does the need for optimal outcomes of pharmaceutical treatments for ischemic heart disease, stroke, and atrial fibrillation.
Ischemic heart disease affects around 126 million people globally. It impacts more men than women and the prevalence is increasing. Epidemiologists expect this number to grow from 1,655 individuals per 100,000 to over 1,845 by 2030.
This year, over 12 million people will have their first stroke. Over 100 million people globally have had a stroke and 6.5 million will die as a result this year. While stroke is largely associated with age, over 60% happen to people under the age of 70 and 16% under the age of 50.
Atrial fibrillation (AF) is a highly prevalent condition—lifetime risk of those over 45 is one out of every three to five individuals. The numbers are increasing. Between 2010 and 2019, the prevalence of AF jumped from 33.5 million to 59 million living with the condition globally.
All of these are commonly treated with drug therapies. In many cases, the effectiveness of the treatment is heavily affected by genetic variations. The Clinical and Translation Science Awards (CTSA) program recently found that four out of every five people have taken drugs that could have been affected by their genes at some point in their lives.
The U.S. Food and Drug Administration (FDA) has presently identified more than 60 genes with variants impacting more than 90 drugs. A study of 300 deceased people found that 93% had at least one pharmacologically significant gene variant and 80% were prescribed at least one of 43 medications that could have likely been impacted by their genes. The researchers believe that almost 80% of the participants could have benefited from pharmacogenomic testing to identify potential drug gene interactions until age 50. While the benefit of testing decreases with age, the researchers believe that around 70% of patients at age 70 still could have experienced better outcomes from testing. Examples of cardiovascular drug classes that are affected by genetic variations include:
- Antiplatelet agents (e.g. clopidogrel)
- Anticoagulant agents (e.g. warfarin)
- Antihyperlipidemic agents statins (e.g. simvastatin)
- β-adrenoreceptor blocking agents (e.g. metoprolol)
