Motivation to Pursue Genetic Testing in Individuals with a Personal or Family History of Cardiac Events or Sudden Cardiac Death

Kathleen E. Erskine, Nadia Z. Hidayatallah, Christine A. Walsh, Thomas V. McDonald, Lilian Cohen, Robert W. Marion, Siobhan M. Dolan

Research output: Contribution to journalArticle

11 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)849-859
Number of pages11
JournalJournal of Genetic Counseling
Volume23
Issue number5
DOIs
StatePublished - Oct 1 2014

Keywords

  • Channelopathy
  • Genetic counseling
  • Genetic testing
  • Long QT syndrome
  • Motivation
  • Sudden cardiac death

ASJC Scopus subject areas

  • Genetics(clinical)

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