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Making the Decision to Participate in Predictive Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

This paper describes the experience of predictive genetic testing for Arrhythmogenic Right Ventricular Cardiomyopathy in the context of novel gene discovery. Two approaches to making the decision to engage in genetic testing were apparent: the decision to be tested either (a) develops gradually over time or (b) happens so quickly that it is felt as a “fait accompli.” Six key factors that influenced the particular approach taken by the participants were identified: (1) scientific process—available and relevant predictive genetic test; (2) numerous losses or deaths within the family; (3) physical signs and symptoms of disease; (4) gender; (5) sense of relational responsibility or moral obligation to other family members; and (6) family support. This study found that at risk individuals juxtapose scientific knowledge against their experiential knowledge and the six identified factors in order to make the decision to participate in genetic testing. Recommendations include the creation of a relational space within which to provide psychological counselling and assessment for the six identified factors that shape the decision to engage in predictive genetic testing.

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Conflict of Interest

Author April Manuel declares no conflict of interest.

Author Fern Brunger declares no conflict of interest.

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“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.”

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  1. Faculty of Nursing, Memorial University, 300 Prince Phillip Drive, St. John’s, Newfoundland and Labrador, Canada, A1B 3V6

    April Manuel

  2. Division of Community Health and Humanities, Faculty of Medicine, Memorial University, St. John’s, Newfoundland and Labrador, Canada, A1B 3V6

    Fern Brunger

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Manuel, A., Brunger, F. Making the Decision to Participate in Predictive Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy. J Genet Counsel 23, 1045–1055 (2014). https://doi.org/10.1007/s10897-014-9733-4

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