Genomic Medicine Meets Public Health in the Prevention of Cardiovascular Disease: Familial Hypercholesterolemia as a Paradigm

Genomic approaches to cardiovascular disease (CVD) have greatly improved our understanding of CVD and its risk factors and our ability to prevent and treat CVD.  Insights into biological pathways involved in CVD gained through genome-wide and functional genomics approaches are leading to the identification of new potential therapeutic targets.  Mendelian randomization studies have provided evidence supporting the causality of cardiovascular risk factors.  As genomic medicine has provided important advances in the clinical realm, genomic approaches can also have major implications for public health. Wider application of genetic testing, combined with careful assessment of environmental exposures, will lead to increased identification of those at risk, greatly improved risk prediction, and targeted preventive interventions.  Familial hypercholesterolemia (FH) is a genetic condition associated with high cholesterol and early onset heart disease, and public health efforts to identify and treat individuals and families with FH can serve as a paradigm for precision public health.