Dr. Ioanna Tzoulaki Imperial College London

Does Adding Genetic Risk to Clinical Score Improve Prediction of Coronary Artery Disease?

MedicalResearch.com Interview with:

Dr. Ioanna Tzoulaki Imperial College London

Dr. Tzoulaki

Dr. Ioanna Tzoulaki
Imperial College

MedicalResearch.com: What is the background for this study?

Response: Considerable progress has been made in identifying genetic variants that are associated with heart disease. We aimed to investigate whether genetic information can be used to assess the risk of individuals developing heart disease in the future and whether genetic tests can improve current risk assessment strategies which are based on easy to measure factors such as age, sex, smoking status, cholesterol levels, blood pressure and presence of type 2 diabetes.

MedicalResearch.com: What are the main findings? 

Response: In our study of 352,660 individuals with no history of cardiovascular disease at baseline, the addition of a genetic risk score to the Pooled Cohort Equations clinical risk score (score currently used in US to assess heart disease risk) was associated with a modest improvement in discriminative accuracy for incident coronary artery disease compared with Pooled Cohort Equations alone (incremental C-statistic, 0.02).

MedicalResearch.com: What should readers take away from your report?

Response: The use of genetic information for heart disease risk assessment warrants further investigation before clinical implementation.

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: We need to perform decision analysis and economic evaluation to weight the risks, costs and benefits associated with the introduction of genetic testing for future heart disease risk in clinical practice.

Any disclosures? I have no conflicts of interest.  


Elliott J, Bodinier B, Bond TA, et al. Predictive Accuracy of a Polygenic Risk Score–Enhanced Prediction Model vs a Clinical Risk Score for Coronary Artery Disease. JAMA. 2020;323(7):636–645. doi:10.1001/jama.2019.22241

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Last Updated on February 19, 2020 by Marie Benz MD FAAD