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The CardioScore test

We developed CardioScore based on over ten years’ worth of Genome Wide Association Studies (GWAS) which combined allow us to understand the genetic component of coronary artery disease (CAD) in unprecedented detail. GWAS use datasets of hundreds of thousands of people and have identified more than 1.9 million genetic variants that can be used to predict CAD risk.

CardioScore uses our proprietary pipeline with an individual’s genetic data at around 750,000 variants. First, these variants are used to impute a further several million genetic variants across the genome. Next, we perform stringent industry-standard quality control to ensure high quality data is used to compute a Polygenic Risk Score for cardiovascular disease risk. More information can be found in our white paper.

We have validated the predictive power of CardioScore in more than 400,000 individuals from the UK Biobank, showing that CardioScore has the highest predictive power (or more formally the highest C-index) when compared to traditional cardiovascular risk factors.

The following scientific studies were used in the development of CardioScore:

  • Khera et al. “Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations”,  Nature Genetics 2018. 
  • Inouye et al. “Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention“, Journal of the American College of Cardiology 2018
  • Natarajan et al. “Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting”, Circulation 2017
  • Khera et al. “Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease”, The New England Journal of Medicine 2016
  • Khera et al. “Whole Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized with Early-Onset Myocardial Infarction”, Circulation 2018

Example result

CardioScore’s Polygenic Risk Score is displayed in an easy and intuitive way identifing three areas of increased risk compared to the average across the European population.
 
The risk areas are identified with three colors:
  • Yellow: 3 fold increased risk
  • Orange: 4 fold increased risk 
  • Red: 5 fold increased risk
Note that individuals in the yellow risk area (at 3 fold increased risk) have a genetic risk that corresponds to same level of risk as a carrier of familial hypercholesterolemia.

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