Genetic Counseling for Cardiovascular Disease: Part A – Pre-Test Approaches and Considerations

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Abstract
Cardiogenetic testing was established 20 years ago; more recently, it began to be incorporated in routine clinical care. Key reasons include expanded knowledge of the genetic basis of cardiovascular disease, wider availability of enriched cardiogenetic testing panels, the issuance of clinical recommendations guiding cardiogenetic testing, and enhanced cardiologists’ awareness. Cardiogenetic testing can be valuable at the levels of diagnosis, prognosis, treatment/ management selection, early disease risk detection, and personalized surveillance strategy. Cardiovascular disease-related genes are incorporated in genetic screening panels currently being evaluated for their potential in disease prevention at the general population level. These rapid developments are increasing the number of individuals requiring genetic counseling and personalized cardiovascular care. Advanced expertise is required to determine when genetic testing is needed, which genetic test is more appropriate, and how the patient and their family members should be prepared for the process. To reap the full benefits of cardiogenetic testing and screening, cardiology and genetics providers must collaborate effectively in the cardiology clinics’ setting. This chapter focuses on cardiomyopathies, arrhythmias, familial hypercholesterolemia, and thoracic aortic aneurysm/dissection, as well as the specialized knowledge that cardiovascular genetic counselors need to serve their indispensable, multifaceted role when caring for individuals with these conditions.

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