1,720,964 research outputs found
Shattered schemata and fragmented identities: men’s experiences of antenatal genetic screening in Great Britain
No full text'I have NF. NF does not have me': an interpretative phenomenological analysis of coping with Neurofibromatosis Type 1
No full textPast research has identified many physical characteristics of Neurofibromatosis Type 1 (NF1), a genetic disorder that can cause severe disfigurement. However, there is a paucity of research regarding psycho-social effects. Existing qualitative research has focussed on proxy reports for affected children, neglecting adult experiences. This present study investigates these. Using Interpretative Phenomenological Analysis (IPA), five themes emerged; insufficiency of NF1 information, feeling judged by other people, social comparisons, positive re-appraisal of one’s situation, and fluctuations in coping methods. The findings of this study highlight the importance of empathic and individualised health-care in aiding adaptation to NF1. Public awareness of NF1 and where necessary, therapies to develop adaptive coping strategies would also help ensure successful adaptation
Limitations and pitfalls of using family letters to communicate genetic risk: a qualitative study with patients and healthcare professionals
No full textEuropean genetic testing guidelines recommend that healthcare professionals (HCPs) discuss the familial implications of any test with a patient and offer written material to help them share the information with family members. Giving patients these "family letters" to alert any relatives of their risk has become part of standard practice and has gone relatively unquestioned over the years. Communication with at-risk relatives will become an increasingly pressing issue as mainstream and routine practice incorporates broad genome tests and as the number of findings potentially relevant to relatives increases. This study therefore explores problems around the use of family letters to communicate about genetic risk. We conducted 16 focus groups with 80 HCPs, and 35 interviews with patients, recruited from across the UK. Data were analyzed thematically and we constructed four themes: 1) HCPs writing family letters: how to write them and why?, 2) Patients' issues with handing out family letters, 3) Dissemination becomes an uncontrolled form of communication, and 4) When the relative has the letter, is the patient's and HCP's duty discharged? We conclude by suggesting alternative and supplementary methods of communication, for example through digital tools, and propose that in comparison to communication by family letter, direct contact by HCPs might be a more appropriate and successful option
Fostering trust in healthcare: participants’ experiences, views, and concerns about the 100,000 genomes project
No full textIn this paper, we present findings from a project involving 20 patients with rare diseases, or parents thereof, participating in the 100,000 genomes project (100 kG P) about their experiences of, and views about, the project, including why they took part, and their hopes and concerns about the future of genomic medicine. Patients who attended genetic clinics for testing were offered the opportunity to undergo the more extensive whole genome sequencing (WGS) if they agreed to take part in the 100 kG P. Once people had agreed, a specific additional appointment was organised for them; taking part in the project therefore involved additional travel and appointments. We found that interviewees' decisions to participate in the 100 kG P were based on interpersonal and institutional trust in the NHS, and on an investment in improving care for the future. Interviewees relied upon receiving good ongoing NHS care for managing their own or their child's rare disease, but they worried about what their relationships with NHS healthcare professionals would be like in future. A few participants worried about whether Genomics England's biorepository would remain protected and an asset of the NHS. To honour and foster participants' trust – which may easily be lost - and their ‘clinical labour’, we therefore recommend ongoing public engagement and consultation about how genomics is being integrated more widely across specialties (especially given its current funding and staffing constraints) within the newly formed NHS Genomic Medicine Service
Investigating the relationship between coping, quality of life and depression/anxiety in patients with external fixation devices
No full textFew studies have explored psychosocial factors affecting depression, anxiety and quality of life (QOL) among adults with external fixation devices (EFDs). This cross-sectional study investigated whether maladaptive and adaptive coping and locus of control predicted these outcomes. Forty-seven participants, recruited from online support groups, completed an 86-item online questionnaire. Maladaptive coping e.g. denial, self-blame, substance-abuse and behavioural disengagement significantly predicted high anxiety and depression and lower psychological and social QOL. Adaptive coping e.g. active-coping and acceptance predicted higher psychological QOL. Results emphasise the importance of supporting EFD patients in developing adaptive coping strategies during, but also after, fixation.</p
Towards a national genomics medicine service: the challenges facing clinical-research hybrid practices and the case of the 100,000 genomes project
No full textClinical practice and research are governed by distinct rules and regulations and have different approaches to, for example, consent and providing results. However, genomics is an example of where research and clinical practice have become co-dependent. The 100,000 genomes project (100kGP) is a hybrid venture where a person can obtain a clinical investigation only if they agree to also participate in ongoing research—including research by industry and commercial companies. In this paper, which draws on 20 interviews with professional stakeholders involved in 100kGP, we investigate the ethical issues raised by this project’s hybrid nature. While some interviewees thought the hybrid nature of 100kGP was its vanguard, interviewees identified several tensions around hybrid practice: how to decide who should be able to participate; how to determine whether offering results might unduly influence participation into wide-ranging but often as yet unknown, research; and how to ensure that patients/families do not develop false expectations about receiving results. These areas require further debate as 100kGP moves into routine healthcare in the form of the national genomic medicine service. We explore the appropriateness of Faden et al.’s framework of ethical obligations for when research and clinical care are completely integrated, for addressing the tensions identified. We also argue that enabling on-going transparent and trustworthy communication between patients/families and professionals around the kinds of research that should be permitted in 100kGP will help understanding and ensure expectations remain realistic. Our paper aims to encourage a focused discussion about these issues and to inform a new ‘social contract’ for research and clinical care in the health service
Healthcare professionals’ and patients’ perspectives on consent to clinical genetic testing: moving towards a more relational approach
No full textBackgroundThis paper proposes a refocusing of consent for clinical genetic testing, moving away from an emphasis on autonomy and information provision, towards an emphasis on the virtues of healthcare professionals seeking consent, and the relationships they construct with their patients.MethodsWe draw on focus groups with UK healthcare professionals working in the field of clinical genetics, as well as in-depth interviews with patients who have sought genetic testing in the UK’s National Health Service (data collected 2013–2015). We explore two aspects of consent: first, how healthcare professionals consider the act of ‘consenting’ patients; and second how these professional accounts, along with the accounts of patients, deepen our understanding of the consent process.ResultsOur findings suggest that while healthcare professionals working in genetic medicine put much effort into ensuring patients’ understanding about their impending genetic test, they acknowledge, and we show, that patients can still leave genetic consultations relatively uninformed. Moreover, we show how placing emphasis on the informational aspect of genetic testing is not always reflective of, or valuable to, patients’ decision-making. Rather, decision-making is socially contextualised – also based on factors outside of information provision.ConclusionsA more collaborative on-going consent process, grounded in virtue ethics and values of honesty, openness and trustworthiness, is proposed
Men's experiences of antenatal screening: A metasynthesis of the qualitative research.
No full textObjectives First to develop a consensus on what is known about men's experiences and involvement in antenatal screening, second to understand whether screening is an appropriate way to engage uninvolved men in pregnancy and third to identify areas requiring further research.
Design A systematic review was conducted to extract relevant qualitative primary research studies, which were subsequently synthesised.
Data sources International qualitative research papers, in English or with English translations, were identified using twenty-three electronic databases, such as CINAHL, MEDLINE, EMBASE, PsycInfo, ASSIA and British Nursing Index. Articles that explored men's views and opinions of antenatal screening and prenatal diagnosis were included.
Review methods Eighteen relevant research studies that met the inclusion criteria were identified. Each one was appraised as suitable for inclusion using a published appraisal tool.
Results Three themes were constructed, which were (1) men's emotional conflicts, (2) men's focus on information and (3) men's influence on decision-making. Men felt a responsibility towards their unborn child to be involved in screening. Despite this, their input was often limited to supporting their partners, and there was no clearly defined, additional role for them as expectant fathers. Thus screening is not likely to be sufficient as an opportunity to encourage men who are uninvolved in pregnancy to become more involved. Nonetheless, engaging men who were involved in the pregnancy and who attended screening appointments was beneficial in encouraging the responsibility they felt towards their unborn child, and in allowing them to support their partners.
Conclusions Healthcare professionals need to engage those men who show willingness to be involved. Nevertheless trying to engage reluctant men in screening, where there is no clearly defined role for them might create further distance between them and the pregnancy. Alternative ways to engage such men in pregnancy are thus required
Men's involvement in antenatal screening: A qualitative pilot study using email.
No full textObjectives this study aimed to explore and analyse men's involvement in antenatal genetic screening and testing in England, and evaluate the use of e-mail communication as a method of health research with men.
Design after receiving a favourable ethical opinion, a longitudinal qualitative pilot study was undertaken.
Participants eight men, whose partners were pregnant, were recruited by purposive sampling.
Findings findings indicated that the men experienced ambivalence, doubts and uncertainty about medically identified genetic risks, and also experienced an "emotional rollercoaster", which was associated with their involvement in antenatal genetic screening and testing. Although connectedness with their partners and shared decision making were highly valued, men's involvement was mediated by their partners and health professionals, including midwives.
Conclusions and implications for practice the implications of findings for medicalisation theory and future research are discussed. Using e-mail was a success in that the strong pilot data produced provides a stimulus for future research. In addition, implications for policy and practice are also considered, specifically the importance of addressing ambivalence and mediation if midwives are to communicate effectively when working with men and women regarding antenatal genetic screening and testing
Beyond individualism: Is there a place for relational autonomy in clinical practice and research?
No full textThe dominant, individualistic understanding of autonomy that features in clinical practice and research is underpinned by the idea that people are, in their ideal form, independent, self-interested and rational gain-maximising decision-makers. In recent decades, this paradigm has been challenged from various disciplinary and intellectual directions. Proponents of ‘relational autonomy’ in particular have argued that people’s identities, needs, interests – and indeed autonomy – are always also shaped by their relations to others. Yet, despite the pronounced and nuanced critique directed at a individualistic understanding of autonomy, this critique has had very little effect on ethical and legal instruments in clinical practice and research so far. In this article, we use four case studies to explore to what extent, if at all, relational autonomy can provide solutions to ethical and practical problems in clinical practice and research. We conclude thatcertain forms of relational autonomy can have a tangible and positive impact on clinical practice and research. These solutions leave the ultimate decision to the person most affected, but encourage and facilitate the consideration of this person’s care and responsibility for connected others
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