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Genetic Testing and the Family

Authors

  • Marcia Van Riper RN, PhD

    Corresponding author
    1. Marcia Van Riper, RN, PhD, is an Associate Professor at the University of North Carolina at Chapel Hill. She has a joint appointment in the School of Nursing and the Carolina Center for Genome Sciences.
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Marcia Van Riper, RN, PhD, School of Nursing, Carolina Center for Genome Sciences, University of North Carolina at Chapel Hill, Carrington Hall CB #7460, Chapel Hill, NC 27514. E-mail: vanriper@email.unc.edu

Abstract

The family experience of genetic testing is explored in this article. Two family stories are presented to illustrate how families define and manage the ethical and social issues that emerge during 2 types of genetic testing: mutation analysis for Huntington's disease and genetic testing for breast and ovarian cancer susceptibility. These 2 families were purposefully selected because their stories exemplify the complexity of the genetic testing experience. In addition, the story of the family living with Huntington's disease shows how negative consequences can occur for the individual tested, other family members, the marital relationship, and the family system, even when the test results indicate that the individual does not carry a deleterious gene mutation. Both of the families presented in this article participated in an ongoing study, Family Experience of Genetic Testing: Ethical Dimensions, in which 118 family members from 67 families have participated. The guiding framework for this research was the family management style framework developed and refined by Knafl and colleagues.

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