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Karl Johnson Katherine W. Saylor Isabella Guynn Karen Hicklin Jonathan S. Berg Kristen Hassmiller Lich 《Genetics in medicine》2022,24(2):262-288
PurposeUnderstanding the value of genetic screening and testing for monogenic disorders requires high-quality, methodologically robust economic evaluations. This systematic review sought to assess the methodological quality among such studies and examined opportunities for improvement.MethodsWe searched PubMed, Cochrane, Embase, and Web of Science for economic evaluations of genetic screening/testing (2013-2019). Methodological rigor and adherence to best practices were systematically assessed using the British Medical Journal checklist.ResultsAcross the 47 identified studies, there were substantial variations in modeling approaches, reporting detail, and sophistication. Models ranged from simple decision trees to individual-level microsimulations that compared between 2 and >20 alternative interventions. Many studies failed to report sufficient detail to enable replication or did not justify modeling assumptions, especially for costing methods and utility values. Meta-analyses, systematic reviews, or calibration were rarely used to derive parameter estimates. Nearly all studies conducted some sensitivity analysis, and more sophisticated studies implemented probabilistic sensitivity/uncertainty analysis, threshold analysis, and value of information analysis.ConclusionWe describe a heterogeneous body of work and present recommendations and exemplar studies across the methodological domains of (1) perspective, scope, and parameter selection; (2) use of uncertainty/sensitivity analyses; and (3) reporting transparency for improvement in the economic evaluation of genetic screening/testing. 相似文献
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Louise Danielsson RPT MSc Susanne Rosberg RPT PhD 《Scandinavian journal of caring sciences》2015,29(3):501-509
Although depression is associated to physical discomfort, meanings of the body in depression are rarely addressed in clinical research. Drawing on the concept of the lived body, this study explores depression as an embodied phenomenon. Using a hermeneutic phenomenological approach, the analysis of narrative‐based interviews with 11 depressed adults discloses a thematic structure of an embodied process of an ambiguous striving against fading. Five subthemes elicit different dimensions of this process, interpreted as disabling or enabling: feeling estranged, feeling confined, feeling burdensome, sensing life and seeking belongingness. In relation to clinical practice, we suggest that the interdisciplinary team can focus on enhancing the enabling dimensions, for example through guided physical activities to support the patient to feel more alive, capable and connected. Moreover, we suggest that the treatment process benefits from an increased awareness of the ambiguity in the patient's struggle, acknowledging both destructive and recharging elements of the withdrawing, and the perceived conflict in‐between. 相似文献
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Well‐being,health and fitness of children who use wheelchairs: Feasibility study protocol to develop child‐centred ‘keep‐fit’ exercise interventions 下载免费PDF全文
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Interprofessional collaboration and communication in nursing homes: a qualitative exploration of problems in medical care for nursing home residents – study protocol 下载免费PDF全文
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Cost‐Effectiveness and Cost‐Utility Analysis of Spinal Cord Stimulation in Patients With Failed Back Surgery Syndrome: Results From the PRECISE Study 下载免费PDF全文
Furio Zucco MD Roberta Ciampichini MSc Angelo Lavano MD Amedeo Costantini MD Marisa De Rose MD Paolo Poli MD Gianpaolo Fortini MD Laura Demartini MD Enrico De Simone MD Valentino Menardo MD Piero Cisotto MD Mario Meglio MD Luciana Scalone PhD Lorenzo G. Mantovani DSc 《Neuromodulation》2015,18(4):266-276
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A mixed‐method study of effects of a therapeutic play intervention for children on parental anxiety and parents' perceptions of the intervention 下载免费PDF全文
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PNPLA3 gene polymorphism and response to lifestyle modification in patients with nonalcoholic fatty liver disease 下载免费PDF全文
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