CARDIO inCode® Score is a genetic test for the evaluation of the coronary genetic load based on a Polygenic Risk Score and a further cardiovascular risk assessment (the risk of having a coronary event in the next 10 years).
Genetics provides approximately a 50% contribution to the development of coronary heart disease and related major adverse cardiovascular events e.g. myocardial infarction or heart attack (Zdravkovic et al., 2002; Wienke et al., 2005; Elosua et al., 2009; Roberts R, 2018). As a result genetics is now recognised as a vitally important risk factor to be included in the patient risk assessment of coronary heart disease.
There is a direct, linear association between genetic load and the risk of coronary events, both the incidence of the event and recurrence (Lluis-Ganella et al., 2010; Lluis-Ganella et al., 2012; Mega et al., 2015; Natarajan et al., 2017; Rincón et al., 2020; Marston et al., 2020; Damask et al., 2020; Emdin et al., 2020).
A significant proportion of cardiovascular events takes place in individuals clinically classified in low and intermediate risk groups based on traditional (non-genetic) cardiovascular risk factors (Marrugat et al., 2011; Iribarren et al., 2016).
Genetic risk assessment in addition to clinical risk assessment provides a more accurate cardiovascular lifetime risk assessment and identifies those patients at the highest overall risk of coronary heart disease. The combination of genetic and clinical risk enables a ‘personalized’ approach to preventing cardiovascular disease through lifestyle change, adjustments to therapy and/or new therapeutic goals.
CARDIO inCode-Score measures an individuals genetic risk of coronary heart disease. Taking an individual’s genetic risk into consideration enables physicians to reclassify patients into a higher treatment category. It is estimated that 5% of patients clinically classified in the low-risk group and 14% of those in the intermediate-risk group would be reclassified to higher risk categories (Iribarren et al., 2016) where genetic risk is assessed.
Genes/variants analysed and technology
These genetic variants are associated with ischaemic heart disease and are independent of classical cardiovascular risk factors (Lluis-Ganella et al., 2010; Lluis-Ganella et al., 2012). These variants have been identified in Genome-Wide Association studies or GWAs.
- Patients with classical cardiovascular risk factors
- Patients with other risk factors (overweight or obesity, hypertriglyceridaemia, etc.)
- Patients with intermediate/moderate 10-year cardiovascular risk
- Patients with a family history of ischaemic heart disease, especially if in first-degree relatives and/or at young ages
- Siblings of patients with a high coronary genetic load (high genetic risk or in quintile 5)
- As part of a general medical check-up
CARDIO inCode® Score is the only available genetic test for the assessment of cardiovascular risk that measures the patient’s coronary genetic load and integrates it into current clinical risk estimation functions (Framingham, REGICOR, SCORE Low Risk, SCORE High Risk, or Pooled Cohort Equation).
This allows reporting of cardiovascular risk without and with the coronary genetic load, enabling patient’s reclassification into higher risk categories. It also allows for the detection of individuals in the intermediate/moderate risk categories with a high coronary genetic load (in quintile 5) who are not currently reclassified.
In addition, CARDIO inCode® Score is the only test that has been validated in over 75,000 individuals from different population origins (Spanish, European Americans, Latin Americans, African Americans, and Asians).
Numerous scientific articles published in prestigious national and international journals have been written about CARDIO inCode® Score:
- Rincón LM et al. A genetic risk score predicts recurrent events after myocardial infarction in young adults. Rev Esp Cardiol 2020;73(8):623-631. doi:/10.1016/j.rec.2019.08.006.
- Iribarren C et al. Weighted multi-marker genetic risk scores for incident coronary heart disease among individuals of African, Latino and East-Asian ancestry. Scientific Reports 2018;8:6853
- Iribarren C et al. Clinical utility of multimarker genetic risk scores for prediction of incident heart disease. A cohort study among over 51000 individuals of European ancestry. Circ Cardiovasc Genet 2016;9:531-540
- Doménech M et al. Awareness of genetic coronary risk score improves blood pressure control in hypertensive patients. Rev Esp Cardiol 2016;69(12):1119-1240
- Ramírez de Arellano A et al. Economic evaluation of Cardio inCode®, a clinical-genetic function for coronary heart disease risk assessment. Appl Health Econ Health Policy 2013;11:531-542
- Lluis-Ganella C et al. Assessment of the value of a genetic risk score in improving the estimation of coronary risk. Atherosclerosis 2012;222:456-463
- Lluis-Ganella C et al. Additive effects of multiple genetic variants on the risk of coronary artery disease. Rev Esp Cardiol 2010;63(8):925-33.
References in the text:
- O’Sullivan et al. Polygenic Risk Scores for Cardiovascular Disease: a Scientific statement of the Americna Heart Association. Circulation. 2022;146:e93–e118. DOI: 10.1161/CIR.0000000000001077
- Marston et al., 2020. Predicting Benefit from Evolocumab therapy in patients with atherosclerotic disease using a genetic risk score: Results from the FOURIER trial. Circulation 2020;141(8):616-623
- Damask et al, 2020. Patients with high genome-wide polygenic risk scores for coronary artery disease may receive greater clinical benefit from Alirocumab treatment in the ODYSSEY OUTCOMES trial. Circulation 2020;141:624-636
- Emdin et al., 2020. Genome-wide polygenic score and cardiovascular outcomes with evacetrapib in patients with high-risk vascular disease: A nested case-control study. Circ Genom Precis Med 2020;13:e002767
- Roberts R, 2018. Genetic risk stratification. Tipping point for global primary prevention of coronary artery disease. Circulation 2018;137:2554-2556
- Natarajan et al., 2017. Polygenic risk score identifies subgroup with higher burden of atherosclerosis and greater relative benefit from statin therapy in the primary prevention setting. Circulation 2017 May 30;135(22):2091-2101
- Mega et al, 2015. Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy. Lancet 2015 June 6;385(9984):2264-2271
- Marrugat et al, 2011. Validez relativa de la estimación del riesgo cardiovascular a 10 años en una cohorte poblacional del estudio REGICOR. Rev Esp Cardiol 2011;64:385-94
- Elosua et al., 2009. Estudio del componente genético de la cardiopatía isquémica: de los estudios de ligamiento al genotipado integral del genoma. Rev Esp Cardiol Supl 2009;9:24B-38B
- Wienke et al., 2005. The heritability of CHD mortality in Danish twins after controlling for smoking and BMI. Twin Res Hum Genet 2005;8:53-59
- Zdravkovic et al., 2002. Heritability of death from coronary heart disease: a 36-year follow-up of 20,966 Swedish twins. J Intern Med 2002;252:247-254