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Stories in isolation: The impact of gene discovery on families and professionals

Sampson, Catherine ORCID: 2009. Stories in isolation: The impact of gene discovery on families and professionals. PhD Thesis, Cardiff University.

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This thesis examines the impact of the 1992 myotonic dystrophy gene discovery on families, clinicians, and a team of scientists who played a key role in the successful international research collaboration. The gene isolation resulted in a diagnostic test but not, as yet, treatment or cure. The scientific team, now dispersed, and families attending the myotonic dystrophy clinic were interviewed, and the myotonic dystrophy medical record archive was examined. Reflexive practice enabled the research strategy to adapt to emergent themes. A broad repertoire of qualitative methods was used to explore the data from these varied sources. Documentary traces in the archive captured research and service trajectories, from the grounding of scientific success in relationships between home, clinic and laboratory, to the contemporary management of myotonic dystrophy where bureaucracy and technology are visible but clinical expertise predominates. Through vivid recollections and use of narrative devices the scientists reconstructed a unique era in clinical genetic research. An emotional register, privileging relationships and the grounding of scientific advance in everyday laboratory work, distinguished their accounts. This language revealed subtle differences between narratives, where there was universal recognition of the importance of the discovery for a scientific career, but ambivalence regarding its personal meaning for some key actors. For families, gene discovery represented hope for future generations while personal meaning was located in the maintenance of valued roles of everyday life. The accounts narrated the challenges of adapting to an uncertain prognosis despite definitive diagnosis. Vocabularies of strength were at variance with physical weakness highlighting the significance of narrative analysis as both method and representation of meaning. Analysis of gene discovery revealed complex interpretations of meaning for the scientists, multiple representations of myotonic dystrophy across the data sources, and the gene test, rather than gene isolation, as a key turning point for families.

Item Type: Thesis (PhD)
Status: Unpublished
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
ISBN: 9781303215315
Funders: ESRC/MRC
Date of First Compliant Deposit: 30 March 2016
Last Modified: 25 Oct 2022 08:45

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