Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: the patients' perspective.

Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with sudden cardiac death. Predictive genetic counseling and testing are performed using adapted Huntington guidelines, that is, psychosocial care and time for reflection are not obligatory and the test result can be disclosed by telephone or mail. Proven mutation carriers detected by predictive DNA testing are advised to undergo regular cardiac follow-up according to international guidelines. We evaluated the opinion of 143 predictively tested HCM mutation carriers on received cardiogenetic care using questionnaires (response rate 86%). Predictive genetic counseling and DNA testing were evaluated on four domains: information provision, satisfaction with counseling, social pressure in DNA testing and regret of DNA testing. Opinions on cardiac follow-up were assessed pertaining to communication, nervous anticipation, reassurance, and general disadvantages. Genetic counseling was valued positively and only four carriers would rather not have known that they were a mutation carrier. A majority received their DNA test result by mail or telephone, and almost all were satisfied. Only 76% of carriers received regular cardiac follow-up. Those who did, had a positive attitude regarding the cardiac visits. General disadvantages of the visits were valued as low, especially by older carriers, men and carriers with manifest HCM. We conclude that our adapted Huntington guidelines are well accepted and that cardiogenetic care is generally appreciated by predictively tested HCM mutation carriers. To better understand the cause of the substantial portion of mutation carriers not receiving regular cardiac follow-up, although recommended in international guidelines, further research is needed.