Genetic testing for early detection of individuals at risk of coronary heart disease and monitoring response to therapy: challenges and promises

Abstract

Coronary heart disease (CHD) often presents suddenly with little warning. Traditional risk factors are inadequate to identify the asymptomatic high-risk individuals. Early identification of patients with subclinical coronary artery disease using noninvasive imaging modalities would allow the early adoption of aggressive preventative interventions. Currently, it is impractical to screen the entire population with noninvasive coronary imaging tools. The use of relatively simple and inexpensive genetic markers of increased CHD risk can identify a population subgroup in which benefit of atherosclerotic imaging modalities would be increased despite nominal cost and radiation exposure. Additionally, genetic markers are fixed and need only be measured once in a patient's lifetime, can help guide therapy selection, and may be of utility in family counseling.

Fig. 1

A collection of 12 single nucleotide polymorphisms (SNPs), including 9p21, improves coronary heart disease prediction over and above traditional risk factors. (From Davies et al. [40].)