Abstract
Much of the qualitative research on Huntington disease has focused on the genetic testing aspects of HD. The overall purpose of this qualitative study was to gather information about the everyday experience of living with the risk of developing Huntington disease in a sample of individuals at risk for HD who have chosen not to pursue genetic testing. Data for this article was obtained from unstructured, open-ended qualitative interviews of a sample of people participating in the PHAROS study. PHAROS, the Prospective Huntington At-Risk Observational Study, is a multi-site study that aims to establish whether experienced clinicians can reliably determine the earliest clinical symptoms of Huntington disease in individuals at 50% risk for HD who have chosen not to undergo genetic testing. Interviews were conducted at six PHAROS research sites across the United States. In this paper, the research team used qualitative description to construct and explore two main themes: (1) careful concealment of risk as an act of self-preservation and (2) preserving hope.
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Notes
Naturalistic inquiry is used when situations are unique or complex, when the level of uncertainty about the questions to ask is high and when there is little or no theory to direct the researcher (MDRC 2004).
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Acknowledgements
We would also like to express our gratitude to the PHAROS participants who so generously gave of their time in order to make this work possible. This research was supported by a grant number 1RO1HG02449–01 received from the Ethical, Legal and Social Implications Program of the National Center for Human Genome Research and the Indiana University School of Medicine GCRC Grant: MO1RR00750.
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On behalf of the Huntington Study Group PHAROS investigators. A full list of PHAROS investigators and coordinators can be found in Shoulson I. et al. (2006). At risk for Huntington disease: The PHAROS (Prospective Huntington at risk observational study) cohort enrolled. Archives of Neurology, 63, 991–998.
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Quaid, K.A., Sims, S.L., Swenson, M.M. et al. Living at Risk: Concealing Risk and Preserving Hope in Huntington Disease. J Genet Counsel 17, 117–128 (2008). https://doi.org/10.1007/s10897-007-9133-0
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DOI: https://doi.org/10.1007/s10897-007-9133-0