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The nature and extent of genetic discrimination among persons at risk for Huntington disease Bombard, Yvonne

Abstract

Huntington disease (HD), the “Dancing Mania” of the Middle Ages, has always been a particular target of social stigma and discrimination. With the discovery of a polymorphic DNA marker linked to HD in 1983, individuals at-risk for HD were able to learn whether or not they had inherited the causative HD mutation and possibly escape its stigma and discrimination. For those who had inherited the HD mutation increased discrimination became a real possibility. Genetic discrimination (GD) refers to the differential treatment of asymptomatic individuals or their family based on genetic differences. It has been over twenty years since the introduction of predictive testing (PT) for HD, yet little is known about the nature and extent of GD and whether PT actually results in increased levels of GD. The objective of this dissertation was to use qualitative and quantitative methods to investigate the nature and extent of GD among persons at-risk for HD. Qualitative findings provide insight into how individuals interpret, personalize and manage GD. Results from the national survey indicate that 40% of respondents reported at least one experience of GD. Reported experiences occurred most often in reference to life and disability insurance, and among family and friends. Surprisingly, there were few reports of GD in employment, health care and government settings. Experiences were not significantly associated with PT. However, the proportion of respondents who reported GD was 16% higher among persons who have the HD mutation than among those that do not and untested respondents. Interestingly, respondents’ family history (FH), rather than their PT result, was the major reason given for their experiences as well as an important predictor of GD. Psychological distress was a health outcome of GD. This is the first study to investigate the nature and extent of GD among an asymptomatic tested and untested population. This dissertation provides evidence that GD is a frequently reported experience and a source of distress for persons at-risk for HD. These findings provide insight for policy, identify areas where more education and support is needed, and provide direction to genetic professionals supporting their clients as they confront issues of GD.

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Attribution-NonCommercial-NoDerivatives 4.0 International

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