“What we’re able to do for patients now with a genetic test, with respect to targeting their care, is more than we were able to do five years ago, and certainly more than we were able to do 10 years ago,” Victoria Parikh, MD, director of the Stanford Center for Inherited Cardiovascular Disease, tells SELF. Here’s how genetic testing is transforming what we know about the heart.
How can genetic tests help detect and predict disease?
You have roughly 20,000 genes, all of which have the potential to carry mutations that cause health consequences, according to the National Institutes of Health.There are two major categories of cardiovascular genetic testing that scan your genes for any quirks.
The first type are single gene panels, which look at specific genes that are strongly associated with inherited cardiovascular diseases passed down from parents to children.5, 6 These include cardiomyopathies, which are diseases of the heart muscle (like arrhythmogenic cardiomyopathy, a condition that causes abnormal heart rate and rhythm); and familial hypercholesterolemia, a common condition that leads to very high levels of low-density lipoprotein (LDL) cholesterol (a.k.a. the kind that’s most commonly associated with health issues).
Single gene panels are recommended for certain people who have strong family histories of cardiovascular disease—as in, multiple first-degree family members with the same condition—and, so, are potentially more susceptible to that disease themselves, Dr. Parikh says.7 These tests, which can cost less than $100 to over $2,000 depending on the kind you take, are fairly straightforward: You either have a genetic variant, or you don’t.
The second bucket of tests are polygenic risk scores. These tests, which typically cost less than $100, scan several genes to measure your likelihood—not certainty!—of developing heart conditions that aren’t caused by a single variant, but which may be influenced by a handful of genetic irregularities that can contribute to disease, says Dr. Gerhard.8 Risk scores are most useful for folks with first-degree family members who have a particular disease (though anyone can get one if they’re curious about their health).9
Polygenic tests can estimate your risk of type 2 diabetes, hypercholesterolemia, atrial fibrillation, lipid disorders, or coronary artery disease. As an example, a test may reveal a person’s risk of having a heart attack is over three times the risk of the general population during their lifetime, says Dr. Parikh. (Remember: This is an estimation to help you care for your heart, not a conclusive diagnosis).