The increasing transparence of the human genome has profound implications for how we
understand health and illness and perceive our biological and social relatedness to others.
Presymptomatic testing for adult onset conditions, in particular, creates the novel situation in
which some individuals know in advance of impending illness while others learn that they have
escaped such a fate. How families at risk for one adult onset condition — Huntington Disease
(HD) — communicate about such information is the topic of this dissertation.
HD is often described as a 'genetic time bomb'. It is an autosomal dominant
neuropsychiatric disorder characterized by mid-life onset, involuntary movements, cognitive
impairment, and depression. There is no effective prevention or cure but with the advent of
predictive testing in 1987 it became possible for at risk individuals to learn if they had inherited
the mutation associated with HL\ Empirical studies on predictive testing for HD focus primarily
on the individual psychological impacts of the test; few studies consider how families
understand and attempt to manage genetic information in their everyday lives.
This dissertation begins to address these lacunae by examining the stories that test
candidates and their families tell about hereditary risk and predictive testing. These stories
derive from a prospectively designed study which includes 102 in-depth, at-home interviews
conducted in the pre and post-results period with 16 test candidates and 33 family members.
Focusing on three narrative 'moments', the dissertation explores how study participants storied
their experiences of: 1) learning about the family history of HD, 2) deciding to request the
predictive test and, 3) making sense of an informative result. Drawing upon a social
constructionist approach, the analysis emphasizes the processual nature of predictive testing as
well as the significance of interpersonal communication in producing and reproducing the social
realities in which genetic information acquires a particular salience. Given the recent
proliferation of genetic tests as well as the absence of an adequate popular discourse on
embodied risk, the research underscores lay actors' abilities to reframe existing clinical schema
in order to interpret and manage hereditary risk in an intersubjectively meaningful way.
| Identifer | oai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:BVAU.2429/9955 |
| Date | 11 1900 |
| Creators | Cox, Susan M. |
| Source Sets | Library and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada |
| Language | English |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
| Relation | UBC Retrospective Theses Digitization Project [http://www.library.ubc.ca/archives/retro_theses/] |
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