Living at risk: Concealing risk and preserving hope in Huntington disease

Kimberly A. Quaid, Sharon L. Sims, Melinda M. Swenson, Joan M. Harrison, Carol Moskowitz, Nonna Stepanov, Gregory W. Suter, Beryl J. Westphal

Research output: Contribution to journalArticle

34 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)117-128
Number of pages12
JournalJournal of Genetic Counseling
Volume17
Issue number1
DOIs
StatePublished - Feb 1 2008

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Keywords

  • Disclosure
  • Genetic disease
  • Genetic testing
  • Huntington disease
  • Risk

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Quaid, K. A., Sims, S. L., Swenson, M. M., Harrison, J. M., Moskowitz, C., Stepanov, N., Suter, G. W., & Westphal, B. J. (2008). Living at risk: Concealing risk and preserving hope in Huntington disease. Journal of Genetic Counseling, 17(1), 117-128. https://doi.org/10.1007/s10897-007-9133-0