Polygenic risk score and age: an extra help in the cardiovascular prevention of the young?

All major guidelines recommend assessing the risk of atherosclerotic cardiovascular disease (ASCVD) using risk scores. In fact, it has been shown that their use at the population level increases the accuracy of event prediction and facilitates the choice of strategies to be adopted in primary prevention. In fact, their use in clinical practice is far from optimal and their predictive ability on an individual level is not excellent. Our genetic heritage is substantially stable from birth and determines a 'baseline risk' on which external influences act. Genetic information therefore has the potential to be an early predictor of risk. Common diseases such as diabetes mellitus, ASCVD and neurodegenerative diseases are conditioned by different genetic variants with small individual effects, so that a reliable risk prediction requires careful examination of the aggregate impact of these multiple variants. The polygenic risk score (PRS) is a tool that potentially enables this complex assessment and provides a new opportunity to explore our risk of developing common diseases, including coronary artery disease (CAD). In the future, it is possible that a specific PRS could be used as an independent CAD screening tool, but this requires a detailed assessment of the practical implications, including the population to be investigated, and the consequent interventions that would then be offered.

Automated summary

Major guidelines recommend using risk scores for assessing the risk of atherosclerotic cardiovascular disease (ASCVD), as they increase event prediction accuracy at the population level. However, their use in clinical practice is suboptimal and their predictive ability on an individual level is not excellent. Genetic information has the potential to be an early risk predictor, but reliable risk prediction requires considering the aggregate impact of multiple genetic variants. Polygenic risk score (PRS) provides a tool for complex assessment and exploration of the risk of developing common diseases.