Motivation to Pursue Genetic Testing in Individuals with a Personal or Family History of Cardiac Events or Sudden Cardia
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ORIGINAL RESEARCH
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
Received: 26 March 2013 / Accepted: 26 February 2014 # National Society of Genetic Counselors, Inc. 2014
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,
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. K. E. Erskine : S. M. Dolan (*) 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 e-mail: [email protected] N. Z. Hidayatallah Department of Psychiatry, Mt. Sinai St. Luke’s, New York, NY, USA C. A. Walsh Department of Pediatrics, Division of Pediatric Cardiology, Children’s Hospital at Montefiore, Bronx, NY, USA T. V. McDonald Departments of Medicine and Molecular Pharmacology, Albert Einstein College of Medicine, Bronx, NY, USA L. Cohen Department of Pediatrics, Division of Medical Genetics, Weill Cornell Medical College, New York, NY, USA R. W. Marion Department of Pediatrics, Divisions of Developmental Medicine & Genetics, Children’s Hospital at Montefiore, Bronx, NY, USA
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. Keywords Genetic testing . Sudden cardiac death . Long QT syndrome . Motivation . Channelopathy . Genetic counseling
Introduction Cardiac channelopathies with gene
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