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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.
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
CARDIO inCode® Score analyses 12 Single Nucleotide Polymorphism (SNPs) genetic variants using qPCR.
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.
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
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