Novel Genomic Scoring System Could Revolutionise Coronary Artery Disease Stratification

AN INNOVATIVE genomic scoring system, metaGRS, is proving effective at stratifying coronary artery disease (CAD) patients, according to results from a new study, conducted at the Baker Heart and Diabetes Institute, Melbourne, Australia. This meta-analysis adds further weight to the concept of early-age genomic screening for this CAD in tandem with assessment of conventional risk factors.

To construct this analysis, researchers used data from the UK Biobank study, which contains information of 480,000 UK patients aged 40–69 years old, recruited between 2006–2010. Using a standardised questionnaire, the UK Biobank study assessed sociodemographic characteristics and health status, as well as physician-diagnosed medical conditions, family history, and lifestyle factors. Of this population, 9,729 cases of CAD were identified at the time of recruitment, in addition to 12,513 new cases diagnosed during a mean follow-up period of 6.2 years.

The following analysis, which led to the creation of metaGRS, included 1,745,180 genetic variants and found hereditary links in 26.8% of CAD cases. The metaGRS system was also demonstrated to have a stronger association with CAD with regard to hazard ratio (95% confidence interval: 1.68–1.73) and positive predictive value versus external validation studies.

This study was limited by its lack of access to lipid measurements, which were not recorded in the UK Biobank data, as well as the fact that population-level lifetime risk may have been under-reported as those observed were generally healthier than the general population of the UK and the minimum age of the participants was 40 years, which could have contributed to the population-level lifetime risk being under-reported. Nonetheless, this study provides further evidence of the potential of genetic screening for CAD. “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,” concluded Dr Michael Inouye, Baker Heart and Diabetes Institute.