fig1

Figure 1. Illustration of the pathway from genetic discovery to clinical application. The Human Genome Project and the HapMap Project made available SNPs that could be used as markers to span the human genome (leading to Genome-Wide Association Studies). Multiple genetic risk variants were discovered and the total risk was summarized in a single number referred to as the Genetic Risk Score (GRS). The GRS was evaluated as a means to risk-stratify for CAD in several studies with an overall sample size of over one million. Genetic risk for CAD was reduced by 40%-50% due to lifestyle changes and drug therapy. Genetic risk is determined at conception and does not change in one’s lifetime. GRS is superior because it enables risk stratification for CAD at an early age prior to the development of conventional risk factors in males or females.