Researchers from Laval University and McMaster University in Canada have studied the use of polygenic risk score in predicting early-onset of heart disease.
Based on multiple genetic differences, the risk score or polygenic test is reported to have identified more cases compared to conventional tests that screen for single genetic defects.
Early diagnosis and treatment are considered critical for patients with a rare genetic defect called familial hypercholesterolemia (FH), as they are reported to be at high risk for early onset of the disease.
Such patients are said to lack single genetic defect, while the study revealed that a risk score based on multiple genetic differences could predict the disease risk at the same level as FH.
McMaster University medicine associate professor Guillaume Paré said: “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.
“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.”
The polygenic risk score was developed based on 182 genetic differences associated with coronary artery disease, and was compared between subjects with and without early-onset heart disease.
During the study, 111,283 UK Biobank volunteers without early-onset heart disease were included as controls.
Laval University assistant professor Sébastien Thériault said: “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.”
The investigators noted that the results apply to individuals of European descent, requiring assessment in additional population groups.