POLYGENIC risk score testing improved coronary artery disease risk assessment in patients with moderate cardiovascular risk, according to preliminary findings from an ongoing real-world implementation study presented at ESC Congress 2026.
The study evaluated whether integrating genetic risk information with traditional clinical assessment could enhance risk stratification and support preventive care decisions.
Researchers followed 584 patients in Catalonia, Spain, aged 45 to 65 years, in a primary prevention setting. All participants had previously been classified as having moderate cardiovascular risk using conventional clinical assessment tools.
The researchers then incorporated a coronary artery disease (CAD) polygenic risk score into each patient’s evaluation to determine inherited genetic susceptibility and provide a more comprehensive assessment of future risk.
Preliminary findings showed that the addition of genetic information altered clinical risk assessment in 42.6% of patients. Overall, 11.6% were reclassified to a higher risk category and 14.9% to a lower risk category
A further 6.8% were at the threshold for upward reclassification, while 9.2% had a high polygenic burden despite remaining within the moderate risk group. In total, 26.5% of participants changed risk category.
Patients were assessed after a mean follow-up of 8.5 months. During this period, researchers observed significant improvements in several cardiovascular risk measures.
Mean cardiovascular risk decreased from 7.30% to 6.04%, while mean low density lipoprotein (LDL) cholesterol fell from 136.74 mg/dL to 123.17 mg/dL. Sustained smoking abstinence increased from 43.7% to 62.8%. All changes were deemed statistically significant.
These findings suggested that disclosure of genetic risk information may have influenced preventive management and health behaviours.
The data indicated that integrating polygenic risk assessment with routine consultations could help identify patients most likely to benefit from intensified preventive strategies.
The greatest benefit was observed among patients with the highest genetic risk. Researchers reported that 49.6% of patients in the high genetic risk group moved to a lower cardiovascular risk category, compared with 33.0% in the moderate genetic risk group and 28.6% in the lowest genetic risk quintile.
The researchers have suggested that polygenic risk assessment may function as an effective risk enhancing tool in primary care. Further analyses examining effectiveness and cost effectiveness are ongoing, with the final research findings expecting to be published in the coming months.
Additional research will be needed to validate these findings in larger and more diverse populations, assess long-term clinical outcomes, and determine how polygenic risk scores can be implemented consistently within routine primary care pathways.
Barrios V and Roig H. Clinical utility of polygenic risk scores for coronary artery disease. ESC26, 28-31 August, 2026.
*Press release provided by GENinCode Plc
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