Primordial Prevention of Cardiovascular Disease through Applied Genetics

Primordial prevention might be considered prevention of the development of disease at its earliest stages or early intervention on risk factors to eliminate increased risk in the first place. In this review we consider how knowledge of genetic causes of early cardiovascular disease can lead to directed screening and better treatment of high risk individuals. While gene therapy would be the most “primordial” approach to prevention of some diseases such as familial hypercholesterolemia, its practical application remains on the horizon. Nevertheless, there is much we can do now to prevent early deaths in genetically high risk patients. Here we consider epidemiology as the parent discipline for applied genetics and as integral to primordial prevention. With new knowledge of special susceptibility and new understanding of the interaction of genetics and exposures, prevention of individual high-risk in the first place is realizable. We summarize here the known and candidate genes influencing atherosclerosis, hypertension, and thrombosis; their diagnosis; and some useful preventive approaches. MEDPED, an international scheme for detection of risk in medical pedigrees, is described, along with the cost and social implications of its application as a preventive strategy.