An investigational test demonstrated superiority in detecting familial hypercholesterolemia compared with traditional methods.
A novel polygenic risk test may be more effective at predicting cases of early-onset heart disease compared with traditional single gene tests, according to a study published by Circulation: Genomic and Precision Medicine.
Heart disease is a leading cause of death worldwide, with coronary artery disease being the most common form of the condition. A majority of individuals can reduce their risk of heart disease by not smoking, exercising, eating a healthy diet, and controlling cholesterol, blood pressure, and blood glucose levels.
However, controlling low-density lipoprotein cholesterol levels may not be possible for patients with familial hypercholesterolemia (FH) who have a genetic deficiency that predisposes them to high cholesterol levels. Patients with FH are at a high risk of developing early-onset heart disease.
Since patients with early-onset heart disease do not have a genetic defect that can be detected by current tests, novel diagnostic methods are crucial, according to the authors.
“Our results provide convincing evidence that the polygenic risk score could be added to the genetic investigation of patients with very early coronary artery disease,” said study lead author Sébastien Thériault MD, MSc, FRCP.
In the study, the authors determined the relationship between a polygenic risk score and early-onset heart disease. The risk score was based on 182 genetic differences for coronary artery disease.
Included in the study were 30 patients with early-onset heart disease, none of whom had the single genetic defect for FH. Another 90 patients with early-onset heart disease and 111,283 control patients were also included.
The authors found that the risk score predicted the high risk for 1 in every 53 patients, which is the same level as the FH test, according to the study. The researchers noted that the prevalence of FH is 1 out of 256 patients for the single genetic test.
These findings suggest that the polygenic test may be able to diagnose patients with FH more accurately than current methods, which may lead to increases in treatment and a reduction in adverse cardiovascular events, according to the study.
The researchers caution that all of the patients included in the study were of European descent, so the findings may not be accurate for other populations.
“The increase in genetic risk was independent of other known risk factors, suggesting that testing for multiple genetic differences is clinically useful to evaluate risk and guide management,” said senior author Guillaume Paré, MD, MSc, FRCPc. “Combining polygenic screening with current testing for familial hypercholesterolemia could potentially increase five-fold the number of cases for which a genetic explanation can be found.”