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

HD Lighthouse Contributing Editor's Comment: Structured questionnaires have their place in research with Huntington's Disease families. They allow for the systematic collection of data with comprehensive input from all of the participants. However, the questions are necessarily limited by the researcher's own understanding of the impact of the disease.

To really understand the experience of living with Huntington's Disease, whether one is at risk, has tested positive, or is a caregiver, researchers need to sit down and talk to people. Researchers from the Department of Medical and Molecular Genetics, Indiana University School of Medicine have done just that with participants in the PHAROS study.

-- Marsha L. Miller, Ph.D.
Posted to the HDL: 10-19-2007

KA Quaid, SL Sims, M Swenson, J Harrison, C Moskowitz, N Stepanov, GW Suter, and B Westphail

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.

Source: Journal of Genetic Counseling 2007 Oct 18; [Epub ahead of print]