Is Heart Disease in Your Future? Ask a Doctor, Not a Genetic Test

Smiling female doctor examining senior patient in hospital

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Key Takeaways

  • A new study suggests regular checkups are better indicators of heart health than genetic tests.
  • Genetic testing only gives an idea of the potential for heart disease, not a guarantee.
  • Lifestyle factors such as high blood pressure, diabetes, and weight are more impactful to heart health than genetics.

When genetic testing became commonly accessible via at-home tests or affordable in-office tests, many assumed that the results would change our understanding of our potential health issues in the future. This has proven true for some diagnoses like cancer, but when it comes to heart disease, it seems that a physician’s assessment is more valuable.

A recent study published in the journal Circulation showed that a basic health assessment performed by a physician provided a more accurate picture of a patient’s heart disease risk than a genetic test.

The study, completed by researchers at Duke AI Health, examined two populations from large databases. None of the participants had coronary heart disease at the beginning of the study. Researchers looked at their polygenic risk scores (PRSs), or genetic markers that should indicate future heart dysfunction. They also did traditional clinical assessments that measured known risk factors, such as cholesterol, blood pressure, diabetes, and tobacco use.

The results showed that the traditional assessment was more accurate than the PRS in determining the future risk of heart disease. Even when the PRS was taken into consideration with traditional assessments, the physical evaluation was significantly more valuable.

Nurture vs. Nature

The results of the study were unsurprising to cardiologists. Ernst Von Schwarz, MD, PhD, a cardiologist at Cedars-Sinai Medical Center, told Verywell that while genetic testing may give you your family history and genetic predisposition to heart disease, lifestyle choices make a much larger impact on heart health.

Von Schwarz said that regular primary care checkups are essential n the United States, where many people are pre-diabetic or experience uncontrolled high blood pressure, both of which are cardiovascular risk factors.

“A large portion of adolescents have pre-hypertension or pre-diabetes,” Von Schwarz said. “But we don’t know about it unless you have a regular checkup. Forty-seven percent of the adult population is currently overweight. That alone is a risk factor that needs to be aggressively addressed with a change of lifestyle. That’s more important than genetic testing will ever be.”

Von Schwarz said that genetic testing can be interesting, but will not figure into evaluation plans for most physicians. That’s because they use symptoms as a guide for ordering or conducting any tests.

“Let’s say someone comes in with chest pain, and that person has had genetic testing done that says he’s at a very low risk of developing early heart disease,” Von Schwarz said. “There are really no clinical implications to that at all. If that patient has chest pain, then the assessment of a physician has more predictive value.”

The Downside of Testing

While some may feel reassured by knowing their genetic status, it can also cause a variety of negative responses. Von Schwarz said that some patients can incorrectly interpret genetic findings to be a promise of things to come rather than a proclivity.

“I’ve had people come in that have printed 15 pages of DNA sequences that show a higher risk of cardiovascular disease and tell me that they are dying of heart disease because it says so on the second page,” Von Schwarz said. “It doesn’t matter that they don’t have a weak heart or lack of oxygen. The fear is still there.”

Conversely, people who show a low risk of cardiovascular disease may make poorer health choices, buoyed by a false confidence in their heart health. A low genetic risk of heart disease would not impact a physician’s decision to order diagnostic tests, according to Von Schwarz.

“Genetic testings don’t rule anything out for the individual,” Von Schwarz said.

The study results concur. While genetic tests may give some insights, they tend to be expensive and don’t give an accurate picture of a patient’s health at the current moment. Clinical testing to measure cholesterol, oxygen levels, weight, and blood sugars can help guide better choices of diet and activity levels, which are known to lower heart disease risks.

What This Means For You

Genetic testing is easily accessible and as simple as a blood or saliva test now. But take the results in stride. Genetic markers only tell one part of your overall health story. Get regular checkups to help guide your health decisions and aim for a balanced diet and plenty of exercise to keep your heart in good shape.

1 Source
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
  1. Khan SS, Page C, Wojdyla DM, Schwartz YY, Greenland P, Pencina MJ. Predictive utility of a validated polygenic risk score for long-term risk of coronary heart disease in young and middle-aged adultsCirculation. 2022;146(8):587-596. doi:10.1161/CIRCULATIONAHA.121.058426

By Rachel Murphy
Rachel Murphy is a Kansas City, MO, journalist with more than 10 years of experience.