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Journal of Genetic Counseling

, Volume 24, Issue 5, pp 732–743 | Cite as

“Both Sides of the Wheelchair”: The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors

  • Georgia C. Lowe
  • Louise A. Corben
  • Rony E. Duncan
  • Grace Yoon
  • Martin B. DelatyckiEmail author
Original Research

Abstract

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by variable age of onset, with no treatment proven to alter its natural history. Siblings of individuals with FRDA have a 25 % risk of developing the condition, raising issues around genetic testing of asymptomatic minors. There is a lack of professional consensus and limited empirical evidence to support provision or refusal of testing. This study aimed to ascertain the opinions of individuals with and parents of individuals with FRDA regarding pre-symptomatic testing of minors. A qualitative research approach using semi-structured interviews and thematic analysis was employed. Interviews with ten individuals with FRDA, and ten parents of individuals with FRDA were conducted, recorded, transcribed and analyzed. Four findings emerged. First, a number of arguments for and against testing minors were identified. Second, strong support existed from parents about the parental right to test their at-risk immature children, but individuals with FRDA were of mixed opinions. Third, participants felt it was not the clinician’s role to make a final decision about whether testing occurs. Finally, a specific issue of concern regarding testing was what and when to tell at-risk children about the test result. The findings highlight a dilemma of how to manage the desires of some individuals and families affected by FRDA to access testing, when there is a lack of professional consensus due to differing opinions regarding autonomy, confidentiality and risk of harm. Research regarding the impact of testing and the views of at-risk individuals and clinicians is required so an appropriate framework for dealing with this contentious issue is developed.

Keywords

Adolescent Child Ethics Friedreich ataxia Genetic predisposition testing Minors Parents Qualitative research 

Notes

Acknowledgments

The authors thank all participants who generously took the time to participate. RED was partly supported through The Invergowrie Foundation. LAC is an Early Career Fellow of the National Health and Medical Research Council (Australia). This study was supported by the Victorian Government's Operational Infrastructure Support Program.

Conflict of Interest

Authors Georgia C. Lowe, Louise A. Corben, Rony E. Duncan and Grace Yoon declare that they have no conflict of interest.

Author Martin B. Delatycki has received consultancy fees from AAVlife.

Human Studies and Informed Consent

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 participants for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

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Copyright information

© National Society of Genetic Counselors, Inc. 2015

Authors and Affiliations

  • Georgia C. Lowe
    • 1
    • 2
  • Louise A. Corben
    • 1
    • 3
  • Rony E. Duncan
    • 1
    • 2
    • 4
  • Grace Yoon
    • 5
  • Martin B. Delatycki
    • 1
    • 2
    • 3
    • 6
    Email author
  1. 1.Murdoch Childrens Research InstituteParkvilleAustralia
  2. 2.Department of PaediatricsUniversity of MelbourneParkvilleAustralia
  3. 3.School of Psychological SciencesMonash UniversityClaytonAustralia
  4. 4.Centre for Adolescent HealthRoyal Children’s HospitalParkvilleAustralia
  5. 5.Divisions of Neurology and Clinical and Metabolic GeneticsHospital for Sick Children and University of TorontoTorontoCanada
  6. 6.Clinical Genetics, Austin HealthHeidelbergAustralia

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