The CardioScore test

CardioScore was developed thanks to more than ten years of Genome Wide Association Studies (GWAS) aiming to understand the polygenic components of coronary artery disease (CAD).
Using large datasets consisting of hundreds of thousands of people was possible to identify more than 6 Million genetic variants that combined predict CAD risk.
The predictive power of CardioScore has been validated in more than 400.000 participants of the UK Biobank,  showing the highest C-index when compared with the traditional risk factors.
CardioScore consists in the genotyping of 750.000 genetic variants distributed across the entire genome and the subsequent imputation of additional 6 Million genetic variants. Genetic variants undergo a stringent quality control pipeline and are finally used to compute the Polygenic Risk Score.

Scientific studies used in the development of the CardioScore test:

  • 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

Result example

The Polygenic Score is displayed in an easy and intuitive way that identifies three areas of increased risk compared to the average 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
It is important to consider that the yellow area (3 fold increased risk) already corresponds to the risk of familial hypercholesterolemia carriers.