title: Motivation to pursue genetic testing in individuals with a personal or family history of cardiac events or sudden cardiac death.
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.
authors.affiliation: Department of Obstetrics & Gynecology and Women's Health, Division of Reproductive Genetics, Albert Einstein College of Medicine/ Montefiore Medical Center, 1300 Morris Park Avenue, Mazer 634, Bronx, NY, 10461, USA.
authors.forename: Kathleen E
authors.initials: KE
authors.lastname: Erskine
authors.forename: Nadia Z
authors.initials: NZ
authors.lastname: Hidayatallah
authors.forename: Christine A
authors.initials: CA
authors.lastname: Walsh
authors.forename: Thomas V
authors.initials: TV
authors.lastname: McDonald
authors.forename: Lilian
authors.initials: L
authors.lastname: Cohen
authors.forename: Robert W
authors.initials: RW
authors.lastname: Marion
authors.forename: Siobhan M
authors.initials: SM
authors.lastname: Dolan
mesh_terms: D002318:Cardiovascular Diseases / Q000235:genetics*; D016757:Death, Sudden, Cardiac; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006801:Humans; D008487:Medical History Taking; D009042:Motivation