Reducing Cardiovascular Risk Using Genomic Information in the Era of Precision Medicine.

Abstract

With the pace of current advances in genomics technologies, we are fast approaching an era when patients will have complete genome sequence information on which clinicians will need to act when making routine clinical decisions. Precision medicine is “an approach to disease treatment and prevention that seeks to maximize effectiveness by taking into account individual variability in genes, environment and lifestyle.”1 One central aim of the recently launched US Precision Medicine Initiative is the return of genetic results for clinical utility. Atherosclerotic cardiovascular disease (CVD), the leading cause of death in men and women, is a chronic disease influenced by lifelong exposure to inherited and environmental risk factors. The major clinical and biochemical atherosclerosis risk factors for coronary heart disease (CHD) and other forms of CVD have been well defined over the past 50 years by prospective population cohorts like the Framingham Heart Study and resulting randomized, controlled treatment trials (RCTs). Genetics for CVD risk prediction provides the opportunity to more precisely identify individuals at high risk for developing disease for whom preventive therapy can be directed. Article, see p 1181 Our initial understanding regarding genetic risk for myocardial infarction and other forms of CHD has focused on rare ( 50 common (>1:20 carrier rate) gene variants with strong evidence for modest increases in CHD risk,6 and >150 common genetic variants with strong evidence for modest alterations of levels of key lipid fractions.7 Despite many novel discoveries, …