Cardiac Genetic Testing in a Dominican Sample in New York

Purpose: To better understand the impact of undergoing cardaic genetic testing, and the impact of clinically prescribed treatments in an underserved minority population. The objective of this investigation was to evaluate the psychological well-being and perceived cardiac risk among Dominicans who underwent clinically indicated cardiac genetic testing for a possible underlying inherited cardiomyopathy or inherited cardiac channelopathy that could result in a life threatening arrhythmia and/or sudden cardiac death.

Methods: Participants completed the Short Form-36 (SF-36) questionnaire after undergoing cardiac genetic testing to evaluate the impact of cardiac genetic testing on their overall well-being and life choices and health decisions.

Results: There were 51 subjects who underwent cardiac testing and a subsequent placement of an ICD for the prevention of sudden cardiac death. Participants revealed three common themes as part of their interviews: (a) fear of dying prematurely, (b) guilt of possibly passing on a mutation to their children, and (c) fear of having an implantable cardioverter defibrillator (ICD) shock. Physical components of the SF-36 were within normal limits but elevated for mental components. Those who suffered a cardiac event had the poorest quality of life as compared to those individuals who did not suffer a cardiac event and were referred for evaluation because of an abnormal echocardiogram, electrocardiogram or having a first degree family relative who was diagnosized with an inherited cardiac syndrome.

Conclusion: Our findings are consistent with those reported in patients living with hypertrophic cardiomyopathy, where immediate and future concerns of a positive cardiac genetic diagnosis generates fear and concern for an individual with the illness and for other immediate family members who may be affected. However, from our clinical experiences and interviews, women (88%) feared passing on a mutation to their children, whereas male patients (82%) reported they feared the occurrence of a life-threatening arrhythmia or ICD firing. The quality of life and specific themes results in this study warrant further research in other populations undergoing genetic testing. Specifically, the impact of evolving genetic technology sin the clinical setting such as whole exon sequencing on future health outcomes and individual health choices is one area of future nvestigation.