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.
