Integration of Clinical Genetic Testing in Cardiovascular Care

Abstract

Knowledge of genetic etiologies for inherited cardiovascular disease has expanded in recent years giving providers the potential to tailor medical management and family screening based on a patient’s genotype for some conditions. This paper highlights recent advances in Mendelian inherited cardiovascular disease such as Marfan syndrome, hypertrophic cardiomyopathy, and familial hypercholesterolemia. Genetic testing has gone through a rapid evolution thanks to technological advancements in sequencing technology. The combination of increased utility and decreased cost is lowering the barriers for testing. Development of next-generation panels and whole-exome and whole-genome sequencing allows for broader testing and, in some cases, gene discoveries. Genetics is fueling growth in pharmacogenetics and complex disease research and has even led to novel therapeutics and new indications for old therapeutics. The integration of clinical genetic testing into patient care is becoming increasingly common as the field expands and more institutions adopt the practice. The interpretation of genetic testing results can be complicated as there are a wide range of tools to determine the pathogenicity of a DNA variant identified in a patient. The psychological impact of genetic counseling necessitates pre- and post-test genetic counseling.