Abstract
Genetic testing is becoming increasingly available for cardiac channelopathies, such as long QT syndrome and Brugada syndrome, which can lead to sudden cardiac death. Test results can be used to shape an individual’s medical management and to identify at-risk family members. In our qualitative study, all participants had a personal or family history of a diagnosed cardiac arrhythmia syndrome or sudden cardiac death. Open-ended interviews were conducted individually and in focus groups. Interviews were audio recorded, transcribed verbatim, and analyzed using a qualitative grounded-theory approach. Of 50 participants, 37 described their motivations for pursuing genetic testing for long QT syndrome or another cardiac channelopathy. Participants’ motivations included: to find an explanation for a family member’s sudden death, to relieve uncertainty regarding a diagnosis, to guide future medical management, to allay concern about children or other family members, and to comply with recommendations of physicians or family members. Perceived reasons not to pursue genetic testing included denial, fear, and lack of information. The genetic counseling and informed consent process can be enhanced by understanding and addressing an individual’s internal and external motivations either for or against pursuing genetic testing.
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Acknowledgments
The authors would like to thank MECC team members Nicole Degroat, Marina Stolerman, Louise Silverstein, David Wasserman and Dorit Barlevy for their valuable feedback and general assistance. We would also like to thank Alice Lara, Laura Wall, and Joanne Robinson from SADS and Laura Crandall from SUDC, as well as all of the participants.
Conflict of Interest
Authors Kathleen Erskine, Nadia Hidayatallah, Christine Walsh, Thomas McDonald, Lilian Cohen, Robert Marion, and Siobhan Dolan declare they have no conflict of interest.
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The project described is supported by Award Number RC1HL100756 from the National Heart, Lung, and Blood Institute. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Heart, Lung, and Blood Institute or the National Institutes of Health.
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Erskine, K.E., Hidayatallah, N.Z., Walsh, C.A. et al. Motivation to Pursue Genetic Testing in Individuals with a Personal or Family History of Cardiac Events or Sudden Cardiac Death. J Genet Counsel 23, 849–859 (2014). https://doi.org/10.1007/s10897-014-9707-6
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DOI: https://doi.org/10.1007/s10897-014-9707-6