Living at Risk: Concealing Risk and Preserving Hope in Huntington Disease

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• 作者：Kimberly A. Quaid ; Sharon L. Sims ; Melinda M. Swenson ; Joan M. Harrison ; Carol Moskowitz ; Nonna Stepanov ; Gregory W. Suter and Beryl J. Westphal
• 关键词：Disclosure ; Genetic disease ; Genetic testing ; Huntington disease ; Risk
• 刊名：Journal of Genetic Counseling
• 出版年：2008
• 出版时间：February, 2008
• 年：2008
• 卷：17
• 期：1
• 页码：117-128
• 全文大小：194.2 KB
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Human Genetics
  Public Health
  Clinical Psychology
  Gynecology
  Ethics
  
• 出版者：Springer Netherlands
• ISSN：1573-3599

文摘

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.