1,720,990 research outputs found
Genetic testing and family entanglements
No full textThe development of the ‘new genetics’ in the early 1990’s opened up a new space which required some patients and families to understand and navigate genetic testing. The social science literature that has grown alongside the ‘new genetics’, now spanning more than thirty years, has continued to explore and question assumptions about attitudes and responses towards genetic technologies. In this article we highlight how individual experience of genetic disease and personal responses towards genetic technologies can only be understood by considering their context. We focus on the rich literature on family within sociology, science and technology studies, anthropology, and family studies, to explore the myriad ways in which family is implicated in the patient experience of genetic testing. We explore these connections by drawing on a set of interviews held with individuals who have undergone a predictive test for a genetic condition, including Huntington’s Disease and breast cancer. Five themes were developed: family disclosure, family gatekeeping, going for testing,individual and collective communication practices, and receiving a negative test result. To conclude, we highlight how these connections might be considered through the lens of entanglement, explaining the complex mechanisms through which family and genetics are intimately entwined
The use of reflective diaries to explore the liminal space between clinical encounters in predictive Huntington’s disease clinics
No full textIntroduction: What happens in a clinic appointment for a predictive Huntington’s disease (HD) test has been documented in various ways. However, much less is known about the liminal space between those sessions. Our aim was to explore the following questions: 1) how does the decision to have a predictive test for Huntington’s disease impact on patients’ lives and 2) what does it feel like for patients to experience this process? This patient group was chosen because the pace of decision making does not usually allow for such detailed scrutiny of this liminal space.Methods: We recruited 15 patients who were considering predictive testing for HD from four UK regional genetics services. Qualitative data was gathered from patients’ reflective diaries to explore the impact of the deliberation process for a predictive HD test and compared with data from clinical appointments. Data was analysed using thematic analysis, the voice approach and I-poems.Results: We focused on topics identified in the reflective diaries that were not present in the clinic appointments. Analysis highlighted themes such as ‘front and back-stage management’, ‘fear of stigmatisation’, ‘social responsibility’, ‘the absence of hope’ and ‘three imagined futures’. Voices and I-poems were used to illustrate these themes.Conclusion: We used a participatory approach to answering the research questions, which was proportionate for the private nature of the diaries and the sometimes-emotive experiences they contained. It may be possible to develop these explorations of patient deliberation between clinical appointments to inform discussion within clinical appointments.ESRC Grant ES/R003092/1<br/
Patient perspectives on making decisions in predictive genetic testing and in responses to fetal cardiac anomaly
No full textThe use of reflective diaries to explore the liminal space between clinical encounters in predictive Huntington's disease clinics
No full textintroduction: What happens in a clinic appointment for a predictive Huntington’s disease (HD) test has been documented in various ways. However, much less is known about the liminal space between those sessions. Our aim was to explore the following questions: 1) how does the decision to have a predictive test for Huntington’s disease impact on patients’ lives and 2) what does it feel like for patients to experience this process? This patient group was chosen because the pace of decision making does not usually allow for such detailed scrutiny of this liminal space. Methods: We recruited 15 patients who were considering predictive testing for HD from four UK regional genetics services. Qualitative data was gathered from patients’ reflective diaries to explore the impact of the deliberation process for a predictive HD test and compared with data from clinical appointments. Data was analysed using thematic analysis, the voice approach and I-poems. Results: We focused on topics identified in the reflective diaries that were not present in the clinic appointments. Analysis highlighted themes such as ‘front and back-stage management’, ‘fear of stigmatisation’, ‘social responsibility’, ‘the absence of hope’ and ‘three imagined futures’. Voices and I-poems were used to illustrate these themes. Conclusion: We used a participatory approach to answering the research questions, which was proportionate for the private nature of the diaries and the sometimes-emotive experiences they contained. It may be possible to develop these explorations of patient deliberation between clinical appointments to inform discussion within clinical appointments. ESRC Grant ES/R003092/
Exploring patient deliberation prior to predictive genetic testing in the absence of immediate clinical utility
No full textIntroduction: Some patients appear to ‘know’ whether they wish to have a genetic test or not, whilst others deliberate extensively before deciding. Little is understood about how patients deliberate such decisions. Previous research has focused on the result of the deliberation process, but little attention has been paid to the process of arriving at a decision itself and the role medical and lifeworld frames play in this deliberation. Our research explored both the deliberation and eventual decision made by patients at risk of Huntington’s disease.Methods: We recruited 15 patients who were considering predictive testing for Huntington’s disease from four UK regional genetics services. We gathered qualitative data from patients’ clinical consultations and reflective diaries to explore deliberation and patient interviews to explore decisions. We took an ethnographic approach to consultations, applied discourse analysis to clinic consultations and reflective diaries, and account analysis to the final interview with participants.Results: Our findings show how consultations, discussions with others, misconceptions, and information seeking influence four key areas: 1. Patient knowledge of the options available; 2. Forecasting of emotions regarding different options; 3. Imagined futures and 4. Hypothetical scenarios (if/then). We compared clinical consultations with reflective diaries to further explore deliberation inside and outside the clinical appointment.Conclusion: Our findings illustrate how medical frames sit alongside patient lifeworld frames and how this influences deliberation and shared decision making. We make recommendations regarding the development of decision support tools for use in clinical practice.ESRC Grant ES/R003092/1<br/
Dimensions of responsibility in medical genetics: exploring the complexity of the “duty to recontact”
No full textDiscussion of a “duty to recontact” emerged as technological advances left professionals considering getting back in touch with patients they had seen in the past. While there has been much discussion of the duty to recontact as a matter of theory and ethics, there has been rather little empirically based analysis of what this “duty” consists of. Drawing on interviews with 34 professionals working in, or closely with, genetics services, this paper explores what the “duty to recontact” means for healthcare professionals involved in genetics. Using a discourse analytic framework, the paper identifies three system generated discourses on recontact (governance, legal and responsibilizing discourses) and three lifeworld discourses (situating recontact as a formal duty; more loosely as an obligation; and as a personal sense of responsibility). In summary, the paper shows that the “duty” to recontact involves a complex interplay of system responsibilities with professional duties, responsibilities and obligations.</p
Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom
No full textThis article explores the views and experiences of healthcare professionals and clinical scientists in genetics about the existence of a duty and/or responsibility to recontact former patients when the genetic information relevant to their health, or that of family members, changes in a potentially important manner. It is based on N=30 semi-structured interviews guided by vignettes of recontacting scenarios. The sample included healthcare professionals in the United Kingdom from different medical specialties (clinical genetics, other ‘mainstream’ specialties now offering genetic testing), and scientists from regional genetics laboratories. While viewing recontacting as desirable under certain circumstances, most respondents expressed concerns about its feasibility within the current constraints of the National Health Service (NHS). The main barriers identified were insufficient resources (time, staff, and suitable IT infrastructures) and lack of clarity about role boundaries and responsibilities. All of these are further complicated by genetic testing being increasingly offered by mainstream specialties. Reaching a consensus about roles and responsibilities of clinical specialties with regard to recontacting former patients in the light of evolving genetic information, and about what resources and infrastructures would be needed, was generally seen as a pre-requisite to developing guidelines about recontact
Recontacting in clinical practice: the views and expectations of patients in the United Kingdom
Full text linkThis is the author accepted manuscript. The final version is available on open access from Springer Nature via the DOI in this record.This paper explores the views and expectations of patients concerning recontacting in clinical practice. It is based on 41 semi-structured interviews conducted in the UK. The sample comprised patients or parents of patients: without a diagnosis; recently offered a test for a condition or carrier risk; with a rare condition; with a Variant of Unknown Significance (VUS) – some of whom had been recontacted. Participants were recruited both via the National Health Service (NHS) and through online, condition-specific support groups.
Most respondents viewed recontacting as desirable, however there were different opinions and expectations about what type of new information should trigger recontacting. An awareness of the potential psychological impact of receiving new information led some to suggest that recontacting should be planned, and tailored to the nature of the new information and the specific situation of patients and families.
The lack of clarity about lines of responsibility for recontacting and perceptions of resource constraints in the NHS tended to mitigate respondents’ favorable positions towards recontacting and their preferences. Some respondents argued that recontacting could have a preventative value and reduce the cost of healthcare. Others challenged the idea that resources should be used to implement formalized recontacting systems – via arguments that there are ‘more pressing’ public health priorities, and for the need for healthcare services to offer care to new patients.Economic and Social Research Council (ESRC
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