A study published by Journal of the American College of Cardiology described a genomic score having the potential to stratify the risk of coronary artery disease (CAD) and emphasized the possible use of genomic screening in early life, adding to traditional risk factors.
Inoyue et al used UK biobank to collect comprehensive data on >480,000 individuals. UK Biobank is an open access, large, multicenter, population-based prospective study with the purpose of allowing investigation of genetic and non-genetic determinants. Patient populations consist of individuals aged between 40 to 69 years at recruitment across the United Kingdom between 2006 and 2010. Information was gathered using a standardized questionnaire on sociodemographic characteristics, health status and physician-diagnosed medical conditions, family history, and lifestyle factors. They used a meta-analysis strategy to develop a genomic risk score for CAD.
“The genomic score developed and evaluated in the present study strengthens the concept of using genomic information to stratify individuals for CAD risk in general populations and demonstrates the potential for genomic screening in early life to complement conventional risk prediction. Although applied health studies will be needed to evaluate properly the clinical utility of CAD genomic risk scores, elements of potential clinical implementation can now be foreseen.”-Dr. Michael Inouye, Ph.D.
A total of 9,729 cases of CAD were present at the time of recruitments and 12,513 new cases were diagnosed during a mean follow-up period of 6.2 years. The meta-analysis performed by Inoyue et al resulted in genomic risk score “metaGRS” which included 1,745,180 genetic variants and explained that 26.8% of CAD might be contributed by heredity. Also, they suggested that metaGRS had a fundamentally stronger association with CAD risk according to the hazard ratio (95% confidence interval [CI]: 1.68 to 1.73) and positive predictive value (PPV) when compared to other external validation studies.
The authors also acknowledged that the relationship of the metaGRS with traditional clinical risk scores was not assessed as lipid measurements were not available in the UK Biobank. Also, the population-level lifetime risk may have been under-reported as the minimum age of participants was 40 years, who were observed to be healthier than the general population of UK.
Source: Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults, October 16, 2018 DOI:
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