Evolving cardiovascular genetic counseling needs in the era of precision medicine

Abstract

In the era of Precision Medicine the approach to disease diagnosis, treatment, and prevention is being transformed across medical specialties, including Cardiology, and increasingly involves genomics approaches. The American Heart Association endorses genetic counseling as an essential component in the successful delivery of cardiovascular genetics care. However, with the dramatic increase in the number of available cardiogenetic tests, the demand, and the test result complexity, there is a need not only for a greater number of genetic counselors but more importantly, for highly specialized cardiovascular genetic counselors. Consequently, there is a pressing need for advanced cardiovascular genetic counseling training, along with innovative online services, telemedicine, and patient-facing digital tools, as the most effective way forward. The speed of implementation of these reforms will be of essence in the translation of scientific advancements into measurable benefits for patients with heritable cardiovascular disease and their families.

Keywords: cardiovascular disease; genetic counseling; genetic disease; genetic testing; genomic medicine; genomics; laboratory genetics; personalized medicine.

Figure 1

Conceptual map guiding a targeted path of inquiry in cardiovascular genetic counseling. Cardiovascular genetic disorders can be broadly classified as ischemic or non-ischemic. While ischemic disease is associated with structural abnormalities, non-ischemic heart disease can be associated with normal or abnormal heart structure. Oxygen deprivation from ischemic heart disease (coronary artery disease) can lead to myocardial death (infarction, heart attack) and cardiac arrest. Non ischemic structural disease (mainly the cardiomyopathies) can lead to heart failure and/or cardiac arrest. On the other hand, non-ischemic disease with normal structure (mainly channelopathies) lead directly to cardiac arrest. Family history questions and patient chart review guided by this framework can aim to identify evidence of ischemia (for example, coronary artery blockage from cardiac catheterization or coronary calcium scoring) and its potential role in disease etiology. If no evidence of ischemia is identified, proceed to identify evidence of structural disease (ventricular enlargement, aortic aneurysm or other defects from echocardiogram or magnetic resonance imaging) or arrhythmia (associated with normal structure) by ECG or Holter monitoring examination. Lp(a), lipoprotein A; DCM, dilated cardiomyopathy; HCM, hypertrophic cardiomyopathy; ARVC, arrhythmogenic right ventricular cardiomyopathy; LQTS, long QT syndrome.