Multiple meanings of a rare genetic disorder: 22q11 deletion syndrome (PhD Thesis)
My ESRC funded doctorate addressed a gap in knowledge of how one rare genetic syndrome, 22q11 deletion syndrome, is understood and experienced by patients, parents and clinicians. While 22q11 has attracted extensive scientific interest the personal and professional implications of new biomedical knowledge and the impact of this rare disease on patient and professional groups have been widely omitted from the research agenda. This was a multi-site ethnography, involving in-depth interviews with health professionals and parents and observations of specialist clinics and scientific and parent-led conferences.
The aim of the study was to understand the construction of 22q11 deletion syndrome and its impact on patients and health professionals by examining:
- the impact of genetic technology on the construction of disease and disease categories
- the doctor-patient relationship within the clinic
- performance and interaction at scientific and parent-led conferences
- the perspectives of parents of children diagnosed with a rare disease
My PhD informed sociological understanding of the impact of genetic technology in an evolving diagnostic landscape. This exploration of the range of diagnostic labels associated with 22q11 and their use by parents and clinicians identified a tension between a classificatory system based on genetic cause and one that is based on clinical presentation.
My PhD also explored the role of the clinical gaze within paediatric and genetic medicine, focusing on the management of the patient body within medical practice and the negotiation of specialist expertise and multi-disciplinary working. The conference as a site of medical work, expertise and interaction has been infrequently examined within sociological texts, thus my PhD not only provided knowledge of a hitherto marginalised setting but also contributed to methodological debate of the role of the ethnographic observer.
Rare disease has a significant impact on the clinical relationship, trust in the medical profession and the ability to identify and engage with support networks. The isolation that parents experienced contrasts with ideas of biosociality and genetic citizenship which are used to account for individual and collective identities in the context of developing genetic knowledge. My PhD contributed to an understanding of the experience of isolated individuals and the health inequalities within these communities.
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