Psychological Issues in Genetic Testing for Inherited Cardiovascular Diseases

Abstract

Clinical genetic testing is now available for many cardiovascular diseases, including hypertrophic cardiomyopathy (HCM), familial dilated cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy, channelopathies such as long-QT syndrome (LQTS), aortic diseases such as Marfan syndrome, and disorders of cholesterol metabolism such as familial hypercholesterolemia (FH). Utility and interpretation of these tests can be complicated by incomplete penetrance (not everyone with a gene mutation will have the disease), variable expressivity (varying symptoms and presentation in those who have the mutation), reduced detection rates (gene mutations cannot be identified in all individuals with the condition), extensive allelic and locus heterogeneity (multiple genes with multiple mutations), and limited genotype-phenotype correlations. These factors can introduce confusion and uncertainty when test results are conveyed to the individual being tested. With the rapid expansion in knowledge of the genetic basis for inherited cardiovascular diseases, and the evolution and increasing availability of clinical genetic testing, there is a compelling need to understand and address the psychological implications of genetic testing in cardiovascular diseases. This article has been organized to reflect the issues of clinically affected individuals and unaffected at-risk adults and children. Most of the relevant literature on this topic is in HCM and LQTS, so discussion of these diseases will be disproportionate to others. However, these genetic prototypes have many similarities with other inherited cardiovascular diseases, and concepts discussed are likely to be generally applicable. When relevant, unique issues for an individual disease will be highlighted. Genetic counseling is the process of integrating family and medical histories, providing education, and promoting informed choices and adaptation to having, or being at risk of developing, a genetic condition.1 Counselors also play a fundamental role in interpretation of the results and conveying the implications of positive, negative, and uncertain molecular test results to the index patient and his/her family …