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Genetic Risk Communication: Experiences of Adolescent Girls and Young Women from Families with Fragile X Syndrome

  • Allyn McConkie-Rosell
  • Elizabeth Melvin Heise
  • Gail A. Spiridigliozzi
Original Research

Abstract

Little is known about how and what genetic risk information parents communicate to their children and even less is known about what children hear and remember. To address this void, we explored how genetic risk information was learned, what information was given and who primarily provided information to adolescent girls and young adult women in families with fragile X syndrome. We explored three levels of risk knowledge: learning that fragile X syndrome was an inherited disorder, that they could be a carrier, and for those who had been tested, actual carrier status. These data were collected as part of a study that also explored adolescent self concept and age preferences about when to inform about genetic risk. Those findings have been presented separately. The purpose of this paper is to present the communication data. Using a multi-group cross-sectional design this study focused on girls ages 14–25 years from families previously diagnosed with fragile X syndrome, 1) who knew they were carriers (n = 20), 2) noncarriers (n = 18), or 3) at-risk to be carriers (n = 15). For all three stages of information the majority of the study participants were informed by a family member. We identified three different communication styles: open, sought information, and indirect. The content of the remembered conversations varied based on the stage of genetic risk information being disclosed as well as the girls’ knowledge of her own carrier status. Girls who had been tested and knew their actual carrier status were more likely to report an open communication pattern than girls who knew only that they were at-risk.

Keywords

Fragile X syndrome Risk communication Genetic testing in children Genetic counseling Carrier testing Adolescents Risk and resiliency 

Notes

Acknowledgments

This study was funded by a grant from the National Fragile X Foundation and the National Institute for Health, NICHD, # 5R03HD044647-02. The authors would also like to express their appreciation to the adolescents and young adults who took part in this study, National Fragile X Foundation Family support network, FraXA for access to their listserv, Robert Resta, Ramsey Wehbe, and to the study genetic counselors, Erin Demo, Shelly Galasinski, Katie Rutledge, and Rebecca Eells. The authors would also like to thank Dr. Ave Lachiewicz, Director of the Duke University Medical Center Fragile X Clinic and Jennifer Sullivan for her comments on earlier drafts of this manuscript.

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Copyright information

© National Society of Genetic Counselors, Inc. 2009

Authors and Affiliations

  • Allyn McConkie-Rosell
    • 1
  • Elizabeth Melvin Heise
    • 1
  • Gail A. Spiridigliozzi
    • 2
  1. 1.Division of Medical GeneticsDuke University Health SystemDurhamUSA
  2. 2.Department of Pediatrics, Department of PsychiatryDuke University Health SystemDurhamUSA

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