“Both Sides of the Wheelchair”: The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors
- 422 Downloads
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.
KeywordsAdolescent Child Ethics Friedreich ataxia Genetic predisposition testing Minors Parents Qualitative research
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.
No animal studies were carried out by the authors for this article.
- American Society of Human Genetics. (1995). Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Journal of Human Genetics, 57, 1233–1241.Google Scholar
- Corben, L.A., Lynch, D., Pandolfo, M., Schulz, J.B.& Delatycki, M.B. (2014). Consensus Clinical Management Guidelines for Friedreich Ataxia. Orphanet Journal of Rare Diseases (in press- accepted 7 November 2014).Google Scholar
- Daly, K. J. (2007). Qualitative methods for family studies & human development. Los Angeles: Sage Publications.Google Scholar
- Duncan, R. E., Gillam, L., Savulescu, J., Williamson, R., Rogers, J. G., & Delatycki, M. B. (2007). "Holding your breath": interviews with young people who have undergone predictive genetic testing for Huntington disease. American Journal of Medical Genetics Part A, 143A, 1984–1989.CrossRefGoogle Scholar
- Duncan, R. E., Gillam, L., Savulescu, J., Williamson, R., Rogers, J. G., & Delatycki, M. B. (2008). "You're one of us now": young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP). American Journal of Medical Genetics Part C, 148C, 47–55.CrossRefGoogle Scholar
- Human Genetics Society of Australasia. (2008). Pre-symptomatic testing in children and young adults. Human Genetics Society of Australasia. Retrieved from: http://www.hgsa.org.au/resources/hgsa-policies-and-position-statements.Google Scholar
- Liamputtong, P. (2013). Qualitative research methods 4th edition. South Melbourne: Oxford University Press.Google Scholar
- National Society of Genetic Counselors. (2012). Genetic testing of minors for adult-onset conditions. National society of genetic counselors. Retrieved from: https://doi.org/nsgc.org/p/bl/et/blogid=47&blogaid=28.
- Quercia, N., Somers, G. R., Halliday, W., Kantor, P. F., Banwell, B., & Yoon, G. (2010). Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling. Neuromuscular Disorders, 20, 340–342.CrossRefGoogle Scholar