Background A clinical-genetic function (Cardio inCode?) was generated using genetic variants

Background A clinical-genetic function (Cardio inCode?) was generated using genetic variants associated with coronary heart disease (CHD) but not with classical CHD risk factors to achieve a Lamb2 more precise estimation of the CHD risk of individuals by incorporating genetics into risk equations [Framingham and REGICOR (Registre Gironí del Cor)]. obtained from a validation study conducted in cohorts of REGICOR (Spain) and Framingham (USA). It was assumed that patients classified as at moderate risk by the standard method were the best candidates to test the risk reclassification with Cardio inCode?. The utilities and costs (€; year 2011 values) of Markov states were obtained from the literature and Spanish sources. The analysis was performed from the perspective of the Spanish National Health System for a life expectancy of 82?years in Spain. An annual discount rate of 3.5?% for costs and benefits was applied. Results For a Cardio inCode? price of €400 the cost per QALY gained compared with the standard method [incremental cost-effectiveness ratio (ICER)] would be €12 969 and €21 385 in REGICOR and Framingham cohorts respectively. The threshold price of Cardio inCode? to reach the ICER threshold generally accepted in Spain (€30 0 would range between €668 and TMC353121 €836. The greatest benefit occurred in the subgroup of patients with moderate-high risk with a high-risk reclassification of 22.8?% and 12?% of patients and an ICER TMC353121 of €1 652 and €5 884 in the REGICOR and Framingham cohorts respectively. Sensitivity analyses confirmed the stability of the study results. Conclusions Cardio inCode? is a cost-effective risk score option in CHD risk assessment compared with the standard method. Key Points for Decision Makers ??Cardio inCode? is a clinical-genetic function for coronary heart disease (CHD) risk assessment. ??For a Cardio inCode? price of €400 in Spain the cost per QALY compared with the standard method would be €12 969 and €21 385 in REGICOR (Registre Gironí del Cor) and Framingham cohorts respectively. ??The greatest benefit in Spain occurred in the subgroup of patients with moderate-high CHD risk with a cost per QALY of €1 652 (REGICOR) and €5 884 (Framingham). Introduction Cardiovascular disease is the most common cause of death in Europe. Despite acquired knowledge the demonstrated efficacy of preventive and therapeutic measures as well as the availability of regional national and European guidelines and plans for the prevention of cardiovascular disease the mortality due to cardiovascular disease continues to be high in Europe [1-4]. Cardiovascular disease is responsible for 31?% of all deaths in Spain making it the main cause of death with coronary heart disease (CHD) being the most frequent [5 6 Since the publication of the first European Guidelines on Prevention of CHD in 1994 [7] the assessment of CHD risk has been recommended as an essential screening tool in the management of patients in all guideline updates. The cardiovascular prevention approach of calculating the CHD risk has become an important criterion to establishing the intensity of preventive efforts [8]. Global CHD risk better describes the overall risk profile and is preferred to the assessment of risk factors separately. In Spain the assessment of TMC353121 CHD risk is mainly performed using the original Framingham Risk TMC353121 Score [9] risk equations based on the Framingham Risk Score such as the REGICOR (Registre Gironí del Cor) Risk Score [10 11 or the SCORE (Systematic COronary Risk Evaluation) function re-calibrated for Spain [12]. Although very useful for screening the current equations have a modest sensitivity and specificity [13]. From a clinical perspective the low precision of risk function prediction is illustrated by the fact that 53.6?% of cardiovascular events in a population aged 35-74?years occur in individuals classified as moderate CHD risk [14-16]. CHD is a TMC353121 disease of complex etiology involving genetic and environmental factors as well as the interaction between them [13]. It is estimated that genetic factors explain between 40 and 55?% of the variability in the population for the onset of CHD [13 14 Several genome-wide association studies have been conducted over the past few years that have consistently identified genetic variants associated with CHD [17-23]. Some of these genetic variants are in turn associated with some classic CHD risk factors although others are independent of the classical factors. The discovery of these genetic variants independently associated with CHD may enable the identification of new etiopathogenic mechanisms of the disease as well as new therapeutic targets. Furthermore these variants could be used as new biomarkers to improve the CHD risk prediction ability or the reclassification of individuals at moderate risk.