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Living at risk: concealing risk and preserving hope in Huntington disease. | LitMetric

Living at risk: concealing risk and preserving hope in Huntington disease.

J Genet Couns

Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, Indianapolis, IN 46202-5251, USA.

Published: February 2008

AI Article Synopsis

Article 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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3660843PMC
http://dx.doi.org/10.1007/s10897-007-9133-0DOI Listing

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