Disclosing Genetic Information to Family Members About Inherited Cardiac Arrhythmias: An Obligation or a Choice?
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Inherited cardiac arrhythmias such as long QT syndrome and Brugada syndrome, present clinical as well as ethical, legal, and social challenges. Many individuals who carry a deleterious mutation are largely asymptomatic and therefore may not be diagnosed until after the occurrence of a personal or family member’s cardiac event. The familial nature of inherited genetic information raises numerous ethical, legal, and social issues regarding the sharing of genetic information, particularly when an individual found to carry a deleterious mutation refuses to disclose his or her results to at-risk family members who could benefit from life-saving treatments. This qualitative study sought to understand the experiences with genetic testing for individuals (n = 50) with a personal or family history of cardiac events or sudden death. Unstructured in-person focus groups or interviews were conducted for each participant in the study. The recordings of these interviews were transcribed verbatim and subsequently analyzed and coded. Participants’ comments regarding sharing of genetic information centered around four main themes: (1) motivation to disclose; (2) extent of disclosure; (3) effect of disclosure on family dynamics; and (4) reasons for not sharing genetic information. The majority of individuals believed that affected individuals are obligated to disclose genetic information to family members. In the era of personalized medicine, the disclosure of genetic information provides individuals the opportunities to learn about the genetics, disease characteristics, and treatment options in order to reduce morbidity and mortality in themselves and their family members. Further research is necessary to identify and explore the barriers to sharing genetic information with at-risk family members.
KeywordsDisclosing genetic information Cardiac arrhythmia Long QT syndrome Ethical, Legal, and social issues Genetic counseling Family communication
This work was supported by a NIH grant from the National Heart, Lung, and Blood Institute for The Ethical and Social Implications of Genetic Testing in the Case of Unexpected Deaths: The Translation of Cardiogenetic Knowledge to Clinical Practice for Families Who Have Experienced a Sudden Unexpected Death Award Number RC1HL100756. We are very grateful to the families and staff of the Montefiore-Einstein Center for Cardiogenetics who participated in this study.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.
Conflict of Interest
Rick D. Vavolizza declares that he has no conflict of interest.
Isha Kalia, M.S., CGC declares that she has no conflict of interest.
Kathleen Erskine Aaron, M.S., CGC declares that she has no conflict of interest.
Louise B. Silverstein, PhD declares that she has no conflict of interest.
Dorit Barlevy, M.A. declares that she has no conflict of interest.
David Wasserman, J.D., M.A. declares that he has no conflict of interest.
Christine Walsh, M.D., declares that she has no conflict of interest.
Robert W. Marion, M.D. declares that he has no conflict of interest.
Siobhan M. Dolan, M.D., MPH declares that she has no conflict of interest.
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