On the relevance of the “genetics-based” approach to medicine for sociological perspectives on medical specialization

This paper draws on a study on the development of medical genetics as a medical specialism in the UK and Canada to reflect on how local and national contexts affect specialty formation. The paper begins by supporting earlier findings in the literature that stress, first, technological innovations as driving specialty formation, and, second, the domination of physicians in the division of medical labour. Beyond this, however, the paper explores the specific circumstances under which geneticists set about turning their work into a medical specialism based on a “genetics-based approach” to illness and how “medical genetics” as a specialism was assessed and configured to fit national and regional health service requirements

Limitations and pitfalls of using family letters to communicate genetic risk: a qualitative study with patients and healthcare professionals

European 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

Beyond individualism:Is there a place for relational autonomy in clinical practice and research?

This is the author accepted manuscript. The final version is available from SAGE Publications via the DOI in this recordThe 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 an 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 that certain 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.The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: ESD is supported by a Wellcome Senior Investigator Award ‘Confronting the Liminal Spaces of Health Research Regulation’ (Award No: WT103360MA)

Vota Esquerra Republicana de Catalunya : Jaume Auqué : Catalunya no és moneda de canvi /

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