Clinical validation of genetic markers for improved risk estimation

Primary prevention is the most effective strategy for reducing the burden of cardiovascular disease; however, predicting cardiovascular risk in the asymptomatic population lacks precision. Traditional methods of estimating risk are based on the presence of certain risk factors, some of which (e.g. hypertension, dyslipidaemia) are modifiable. Cardiovascular risk is also determined by a plethora of genetic risk factors, and this is partially reflected by a positive family history of cardiovascular disease; however, family history may not always be an accurate indication of genetic cardiovascular risk. Genome-wide association studies have identified numerous genetic variants associated with increased cardiovascular risk and cardiovascular risk factors. The addition of genetic information to conventional risk scores has the potential to increase the discriminative power of the score. Genetic markers may be particularly helpful for predicting life-time risk of cardiovascular disease in younger subjects, which is often underestimated by traditional risk scores. Advances in our understanding of the genetics of cardiovascular risk provide opportunities for improving both the prevention and treatment of cardiovascular disease.