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When to Consider Pharmacogenomic Testing for Heart Disease

Updated: Sep 6

Heart disease is the leading cause of death for men and women in the United States. Over 650,000 Americans die each year from heart disease. Heart disease tends to run in families, and for this reason, pharmacogenomic testing may be helpful to some people.

Pharmacogenomic testing can provide information to help treat heart disease in a precise way. Read on to learn more about how pharmacogenomic testing can help improve treatment outcomes for heart disease.


What is Heart Disease?

Heart disease is a collection of heart conditions. Coronary artery disease (CAD) is the most prevalent form of heart disease in the United States. CAD causes decreased blood flow to the heart, which can lead to a heart attack.


Signs of Heart Disease

Heart disease can remain “silent” until a person has signs and symptoms. Heart disease symptoms show up as the signs of heart attack, arrhythmia, or heart failure. The signs of heart disease include:

  • Chest pain or discomfort

  • Upper back or neck pain

  • Indigestion or heartburn

  • Nausea or vomiting

  • Extreme fatigue

  • Dizziness

  • Shortness of breath

  • Fluttering in the chest (palpitations)

  • Swelling of the feet, ankles, legs, or abdomen

  • Swelling of neck veins

What is Pharmacogenomic Testing?

The study of Pharmacogenomics, also called precision medicine, is a branch of medicine that studies how our body interacts with medications at the gene level. With this branch of medicine, doctors are able to tailor specific medications to a person's specific genome. This can reduce the side effects of a drug or increase the drug's effectiveness.


Pharmacogenomic tests can identify how good our body is at breaking down drugs. They can identify which drugs a person may or may not be able to break down. With this kind of information, patients can receive better treatment for certain conditions.


How Pharmacogenomic Testing Works

Pharmacogenomic testing maps the genome of a person. This testing finds the genes that are linked to proteins that are responsible for tasks in the body. These proteins may be responsible for breaking down and distributing medication into the bloodstream.

Pharmacogenomics can optimize drug treatment for cardiovascular disease. The drugs that have been most associated with this type of testing are warfarin, clopidogrel, and statins. There are clinical guidelines available that assist in optimizing warfarin dosing.


Another example of how Pharmacogenomic testing can be helpful in predicting the risk for statin-induced muscle weakness, pain, or cramping. These symptoms can arise after starting statin medications meant to treat high cholesterol.


Body’s Response to Drugs

The body's response to drugs has two main processes; one deals with the time it takes for the medication to break down and get absorbed into the body. The second one deals with the relationship between how much drug we have in our blood and how well the drug works.


Pharmacogenomics deals with the genetic information that contributes to individual differences in each of these processes. Most clinical testing with pharmacogenomics focuses on drug metabolism.


Pharmacogenetic testing works to optimize the body’s response to drug options to treat heart disease. The test report will give your doctor a list of potential medications that are compatible with your body.


Metabolization of Medication

Millions of Americans take medication to treat or prevent heart disease, costing Americans around $300 billion each year. Advancements in medicine have used genetic information to guide treatment for cardiovascular patients. Clinical studies have found that the three main enzymes in the liver that metabolize medications are CYP2D6, CYP2C9, and CYP2C19.


A person’s genes are the main determining factor in the level of enzymes in your liver. Too much enzyme causes the medication to disappear too quickly from our body. Whereas too little enzyme causes the medication to build up in our body, which can cause negative reactions to the drug.


Benefits of Testing

The goal of precision medicine is to define diseases more accurately and diagnose them more precisely. It also can identify a disease subtype. The main idea is to move away from a “one-size-fits-all” treatment approach to a more precise and customized treatment approach.


The most valuable aspect of pharmacogenomic testing is the reduction in negative reactions to drugs that could leave a person hospitalized, disabled, or cause death. It prevents the use of drugs that are not compatible with a person’s genome, causing failure of efficacy.


Genetic Testing for Heart Disease

Genetic testing can also be used to identify the risk of heart disease. Some cardiovascular diseases are inherited. Parents, siblings, and children of those diagnosed with heart disease or sudden cardiac arrest may benefit from genetic testing.


Results can help you manage your risk by making decisions with your doctor on how to care for your heart. Not everyone will have the same symptoms of heart disease, and testing can help your doctor track you earlier. Watching for early signs of heart disease before symptoms arise can save lives.


The main types of inherited heart disease are cardiomyopathy, arrhythmia, and connective tissue disease. These are caused by a single DNA variation. Other heart diseases, like heart attacks, are caused by a combination of gene mutations.


Who Should Get Pharmacogenomic Testing?

Genetic testing for heart disease should be used only in specific patients. Only some cardiovascular conditions have an inherited genetic component. They include:

  • Cardiomyopathies

  • Thoracic Aortic Aneurysms

  • Arrhythmic Disorders

  • Familial Hypercholesterolemia

Before pursuing genetic testing, patients should work with a healthcare provider to document family medical history. This medical history should go back at least three generations to look for certain types of heart disease. Testing should be used in patients who have a confirmed or suspected diagnosis of inherited heart disease.


It can also be used for those at high risk of developing heart disease. This can be from an identified gene abnormality that may be disease-causing.


Improving Treatment for Heart Disease

Pharmacogenetic testing can improve the results of treatment for heart disease. It works with your body’s specific genes and proteins to find the best medication for you. Testing can prevent some of the negative side effects that can come with taking certain medications.

Pharmacogenomic testing can give you and your doctor important information on your specific disease and your body’s way of reacting to certain medications. This allows for tailored treatment of your heart disease.


Talk with your cardiologist today to improve your treatment outcomes for heart disease.

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