1,721,307 research outputs found
In the family: access to, and communication of, familial information in clinical practice
No full textHow an individual's genetic information is governed by confidentiality, and how the interests of others-such as close relatives-in knowing such information might be respected, has been the topic of much debate ever since genetic testing has become more prevalent. In this paper, two authors who often appear to have different views on familial disclosure, discuss where they agree on this topic.</p
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
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/
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/
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 fetus as a patient: a sustainable approach for clinical interactions in the field of new prenatal medicine?
No full textPregnant women and physicians have not only a rather short common history but also one fraught with tension. The central category of medicine as a professional practice - the category of disease - triggers and justifies professional actions but does not seem appropriate for the vast majority of pregnancies. The state of pregnancy is not a state of disease, neither in a descriptive nor in an evaluative sense. Nevertheless, being pregnant nowadays for many women means being in need of or receiving health care, being a patient. Sophisticated clinical care pathways equipped with extensive sets of diagnostic tools have been established in order to monitor the progress of pregnancies and identify potential complications as early as possible. In many countries, a doctor (and not a midwife) is the key contact person for women during pregnancy. But not only have pregnant women been transformed into patients: increasingly, physicians are identifying the fetus as also being a patient requiring prenatal care. Fetuses themselves are subjected to diagnosis and to treatment. Their whole genome is analysed; they are anesthetized and operated on. Fetuses might even impress as prime work objects in medicine; they are challenging bodies that do not challenge clinicians socially. That is, fetuses cannot ask questions about their own illness or prognosis, nor can they disagree with a doctor’s recommendation. (…) Fetal patients may well be considered the ‘best’ patients by medical workers
Change over a 16 month period in the psychological well-being of mothers of girls and women with Rett syndrome
Full text linkPurpose: There is an emerging research literature on the experiences of family members of girls and women with Rett syndrome (RTT), but a lack of longitudinal data. Methods. Fifty mothers whose daughters had RTT were surveyed 16—17 months after an earlier cross-sectional study. Measures completed at both time points focused on maternal positive and negative psychological well-being and their daughters’ behavioural and emotional problems and RTT behavioural phenotype severity. Results: Maternal stress, anxiety and depression demonstrated at least moderate levels of stability. Maternal positive perceptions were also moderately stable over 16—17 months. Longitudinal analyses suggested that their daughters’ behavioural and emotional problems rather than RTT behavioural phenotype severity predicted later maternal well-being. Conclusion: Mothers with RTT daughters experience chronic stress (persisting over time) but also ongoing positive perceptions. Practitioners should recognise positive perceptions, and also consider targeted behavioural parent training to reduce behaviour problems in individuals with RTT
Psychological well-being of mothers and siblings in families of girls and women with Rett syndrome
No full textFew published studies have reported on the psychological well-being of family members of individuals with Rett syndrome (RTT). Eighty-seven mothers of girls and women with RTT completed a questionnaire survey about their daughters’ behavioral phenotype, current health, and behavior problems, and their own and a sibling’s well-being. Mothers reported increased anxiety but similar levels of depression when compared to a normative sample. Across all problem domains on the Strengths and Difficulties Questionnaire, child and adolescent siblings (n = 39) were reported by mothers to have fewer difficulties than a normative sample. The severity of their daughters’ RTT behavioral phenotype predicted increased anxiety and stress for mothers. Increased RTT daughters’ current health problems predicted more maternal perceptions of positive gain
Prenatal therapy for differences of sexual development (DSD): fuzzy boundaries in the clinical discussion and the ethical debate
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