Understanding the diagnostic process in a rare, genetic disease: a mixed methods study of schwannomatosis

Diagnostic errors are relatively common in medicine and can cause significant patient harm. We adapted the National Academy of Medicine’s model of the diagnostic process to examine diagnostic errors in schwannomatosis, a rare, genetic syndrome in which patients commonly develop multiple nerve sheath tumors and chronic pain. We specifically assessed how well the schwannomatosis diagnostic process currently functions; identified specific failures in the diagnostic process and assessed their contribution to diagnostic error; and explored the impact of diagnostic errors on patients’ lives. In study one, we reviewed the medical records of 97 schwannomatosis patients seen in two tertiary care clinics to assess the extent of diagnostic error in this population. It took a median of 7.9 years from patients’ first sign/symptom for a diagnosis of schwannomatosis to be established and communicated to patients. One-fifth of patients had a clear missed opportunity for appropriate workup that could have led to an earlier diagnosis. About one-third of patients experienced a misdiagnosis of their pain etiology, tumor pathology, or underlying genetic diagnosis. In study two, we created narrative summaries detailing patients’ diagnostic journeys using the medical record data of 52 schwannomatosis patients included in study one. Directed content analysis of these summaries identified the specific diagnostic process failures patients experience. Almost all patients experienced at least one failure, which most commonly reflected deficiencies in diagnostic testing, the clinical history/interview, or follow-up. Two-thirds of failures significantly impacted patient outcomes, most often by delaying needed diagnostic workup and communication of a final diagnosis to the patient. In study three, we interviewed 18 people with schwannomatosis from across the United States and used thematic analysis to explore patients’ symptom appraisal and the personal impact of diagnostic errors. Participants and their healthcare providers often ascribed schwannomatosis symptoms to more common conditions, which could delay care-seeking and initial workup. Diagnostic delay and misdiagnosis could result in unnecessary surgery, delayed receipt of effective pain management, psychological distress, and stigmatization. Collectively, these studies give unique insight into the prevalence, causes and ramifications of diagnostic error in schwannomatosis, and highlight opportunities to improve the diagnostic process across rare, genetic diseases

Bodies of Seeing: A video ethnography of academic x-ray image interpretation training and professional vision in undergraduate radiology and radiography education

This thesis reports on a UK-based video ethnography of academic x-ray image interpretation training across two undergraduate courses in radiology and radiography. By studying the teaching and learning practices of the classroom, I initially explore the professional vision of x-ray image interpretation and how its relation to normal radiographic anatomy founds the practice of being ‘critical’. This criticality accomplishes a faculty of perceptual norms that is coded and organised and also, therefore, of a specific radiological vision. Professionals’ commitment to the cognitivist rhetoric of ‘looking at’/‘pattern recognition’ builds this critical perception, a perception that deepens in organisation when professionals endorse a ‘systematic approach’ that mediates matter-of-fact thoroughness and offers a helpful critical commentary towards the image. In what follows, I explore how x-ray image interpretation is constituted in case presentations. During training, x-ray images are treated with suspicion and as misleading and are aligned with a commitment to discursive contexts of ‘missed abnormality’, ‘interpretive risk’, and ‘technical error’. The image is subsequently constructed as ambiguous and that what is shown cannot be taken at face value. This interconnects with reenacting ideals around ‘seeing clearly’ that are explained through the teaching practices and material world of the academic setting and how, if misinterpretation is established, the ambiguity of the image is reduced by embodied gestures and technoscientific knowledge. By making this correction, the ambiguous image is reenacted and the misinterpretation of image content is explained. To conclude, I highlight how the professional vision of academic x-ray image interpretation prepares students for the workplace, shapes the classificatory interpretation of ab(normal) anatomy, manages ambiguity through embodied expectations and bodily norms, and cultivates body-machine relations

Medical confidentiality and domestic abuse

This thesis investigates what medical confidentiality means in practice, in the context of a trial for domestic abuse. Despite the recent landmark case of WF (2016), which upheld a complainer’s right to privacy in relation to the use of their medical records, I demonstrate that medical records continue to be used routinely in criminal prosecutions in ways which undermine the supposed protections supported in WF. This points to the need for a more fundamental assessment of the underlying processes of the type that I have carried out in this thesis. There is no other research that properly takes account of these issues, while including the views of the survivors, as well as the front-line clinicians and lawyers involved. This thesis offers a fundamental exploration of how perceptions of medical confidentiality affect how records are made, sought and used in this context. Using data from twenty-eight in-depth interviews with survivors, clinicians and lawyers, I show how medical confidentiality is routinely undermined in cases of domestic abuse and sexual violence. My research demonstrates the need for a new approach to the definition of medical confidentiality and a review of the ways that medical records are used in these kinds of cases. Interview responses are complemented by a questionnaire study, recounting survivors’ experiences with medical and legal services, alongside further quantitative data tracing the medical records requests made to an NHS health board. Throughout, I highlight issues with the consent process, finding that prosecution staff use the potential for failed convictions to encourage survivors to agree to their medical records being recovered and disclosed. The concept of relevance is also discussed, with my data bolstering accusations by other researchers that it is too widely interpreted, by legal professionals in particular. The potential for future legal proceedings is shown to have a powerful impact on the way confidentiality is perceived in the health service, with clinicians, on occasion, willing to amend practice to assist the chance of prosecutions succeeding. Overall, this thesis highlights the importance of medical confidentiality in survivors’ perceptions of the criminal justice process and the health service. Moving away from the simplistic assumptions that confidentiality has no effect on courtroom experiences, my research instead shows that diverging perceptions of confidentiality risk the disclosure of large amounts of sensitive medical information that in turn affects the chances of survivors engaging with clinicians and lawyers in future

The Diagnosis Narratives & The Healing Ritual

ABSTRACT THE DIAGNOSIS NARRATIVES & THE HEALING RITUAL by JAMES PETER MEZA December 2013 Advisor: Dr. Andrea Sankar Major: Anthropology (medical) Degree: Doctor of Philosophy The goal of this dissertation was to describe healing practices in the setting of clinical encounters between patients and doctors. The theoretical background for this research began with the theory of the mind and using concepts from cognitive anthropology described the anthropological self as distinguished from person or identity. Additionally, the conceptual framework of cognitive anthropology was used to describe narrative theory. Narrative theory in the form of the narrative structure of experience, particularly the experience of ritual formed the basis for investigation. The fieldwork setting was a urological practice and all of the clinical sites associated with this practice, including two hospitals, satellite clinics, related disciplines of urogynecologic oncology and radiation oncology. The majority of the data was obtained using participant observation. Analysis was accomplished by sorting the data using Atlas ti v6.2 and generating themes by codes. These themes were then re-examined using the theoretical framework. The major finding was that diagnosis narratives were an essential part of the healing ritual. This was in contrast to current anthropological emphasis on illness narratives. The theoretical and practical aspects of these findings were discussed in the results. Diagnosis narratives contributed to the healing ritual and successful completion of the ritual resulted in healing relationships. This research has implication for future anthropological research using narrative theory for investigating narrative components of healing rituals in Western biomedicine. Additionally, it has applications for cultural communication in clinical practice

The experience of newly qualified sonographers: A case study design

AimOver the last two decades, ultrasound imaging and practice has undergone a significant transformation shaped by political, cultural, sociological, technological and educational influences. Furthermore, the continual rise in the demand for ultrasound examinations is outstripping supply. This has had several reverberations and ramifications for the dynamics, constitution and wellbeing of the sonography workforce. Moreover, the adoption of ultrasound technology by various professionals has resulted in professional fission and fusion with both vertical and horizontal substitution within this heterogeneous workforce. It is against this backdrop that newly qualified sonographers enter the workforce. One under-researched area is an understanding of the experiences of these newest members of this multi-disciplinary workforce.MethodologyA case study methodology was utilised which explored the experiences of newly qualified sonographers in their first year of ultrasound practice. The newly qualified sonographers were from a multi-disciplinary background. A conceptual framework was initially developed to guide the discovery phase of this research. Data was collected from eleven participants using face to face interviews and work diaries. The data sets were analysed using thematic analysis. The findings of the research were then embedded into the conceptual framework. Findings Three main overarching themes from eight subthemes were identified, namely; transition, role development and maintaining competency and credibility. The knowledge and understanding generated has broader benefits not only for the individual professional but also for ultrasound educational curricula, individual organisations and professional bodies. Experiences of newly qualified sonographers can be improved by developing specific preceptorship programmes in the initial period of transition whilst drawing upon theories such as cognitive apprenticeship and situated learning to facilitate role development after qualification. For organisations with a multidisciplinary ultrasound workforce, the fostering of communities of practice should be encouraged as a social learning environment. These strategies will promote the future role and development of the sonographer and create a greater sense of professional pride, belonging and security whilst supporting both uni-professional and cross-boundary ultrasound working

Translating Predictive Models for Alzheimer’s Disease to Clinical Practice: User Research, Adoption Opportunities, and Conceptual Design of a Decision Support Tool

Alzheimer’s Disease (AD) is a common form of Dementia with terrible impact on patients, families, and the healthcare sector. Recent computational advances, such as predictive models, have improved AD data collection and analysis, disclosing the progression pattern of the disease. Whilst clinicians currently rely on a qualitative, experience-led approach to make decisions on patients’ care, the Event-Based Model (EBM) has shown promising results for familial and sporadic AD, making it well positioned to inform clinical decision-making. What proves to be challenging is the translation of computational implementations to clinical applications, due to lack of human factors considerations. The aim of this Ph.D. thesis is to (1) explore barriers and opportunities to the adoption of predictive models for AD in clinical practice; and (2) develop and test the design concept of a tool to enable EBM exploitation by AD clinicians. Following a user-centred design approach, I explored current clinical needs and practices, by means of field observations, interviews, and surveys. I framed the technical-clinical gap, identifying the technical features that were better suited for clinical use, and research-oriented clinicians as the best placed to initially adopt the technology. I designed and tested with clinicians a prototype, icompass, and reviewed it with the technical teams through a series of workshops. This approach fostered a thorough understanding of clinical users’ context and perceptions of the tool’s potential. Furthermore, it provided recommendations to computer scientists pushing forward the models and tool’s development, to enhance user relevance in the future. This thesis is one of the few works addressing a lack of consensus on successful adoption and integration of such innovations to the healthcare environment, from a human factors’ perspective. Future developments should improve prototype fidelity, with interleaved clinical testing, refining design, algorithm, and strategies to facilitate the tool’s integration within clinical practice

Conditions for Empathy in Medicine: A Grounded Theory Study

Previous research in the medical setting has credited empathy with improving treatment outcomes and patient satisfaction, though operational definitions of the concept are widely varied and indicate inconsistencies in conceptualization and subsequent assessment. The purpose of this grounded theory study was to examine the role of empathy in the medical setting. A model of conditions for empathy in medicine was developed through in-depth interviews with 21 healthcare professionals, utilizing their professional experiences and perspectives to structure the multi-level model. The seven levels of the model indicate the layers of complexity inherent in facilitating optimal empathy in medicine and add to the conceptualization empathic practice and development

Rhetorics of pain: agency and regulation in the medical-industrial complex

This dissertation explores the rhetorical mechanisms of agency and regulation in the medical-industrial complex. It presents the results of over two years of ethnographic observation and interviews with a multidisciplinary pain management organization. Additionally, it interrogates two broader cases of agency and regulation in pain science: 1) the debate over the nature of the sinus headache and 2) the debate surrounding the legitimacy of the chronic pain condition fibromyalgia. Following recent theoretical work in rhetorical studies, this dissertation argues that the rhetoric of pain science corroborates recent theoretical suggestions that the exercise of both agency and regulation is predicated on structures of authority. Furthermore, the results of this study suggest that when clinicians seek change in medical science or healthcare regulation, they rely on authority provided to them by their disciplinary identity--an identity supported by the same structures they seek to change. Similarly, the exercise of regulation in the medical-industrial complex is often based on identical structures of authority. Finally, in exploring these issues, this dissertation also argues for more inquiry in the emerging subfield known as rhetoric of technoscience. The work of this dissertation demonstrates the methods and modes of inquiry for rhetoric of technoscience and reflects on how such modes of inquiry are different from rhetorics of science and technology, as traditionally conceived. Ultimately, this work argues for greater attention to issues of ontology and materiality as well as continued exploration into how those issues impact scientific and policy discourses