Pragmatic Health Ethics Research Unit, Institut de recherches cliniques de Montréal, 110 Pine Avenue West, Montréal, QC, H2W 1R7, Canada.
Département de médecine sociale et préventive, Université de Montréal, Montréal, QC, Canada.
HEC Forum. 2024 Sep;36(3):441-478. doi: 10.1007/s10730-023-09511-4. Epub 2023 Jul 29.
Rare diseases, defined as having a prevalence inferior to 1/2000, are poorly understood scientifically and medically. Appropriate diagnoses and treatments are scarce, adding to the burden of living with chronic medical conditions. The moral significance of rare disease experiences is often overlooked in qualitative studies conducted with adults living with rare diseases. The concept of morally problematic situations arising from pragmatist ethics shows promise in understanding these experiences. The objectives of this study were to (1) acquire an in-depth understanding of morally problematic situations experienced by adults living with rare diseases in the province of Québec and (2) to develop an integrative model of the concept of morally problematic situations. To this end, an online survey targeting this population was developed through a participatory action research project. Respondents provided 90 long testimonies on the most important morally problematic situations they faced, often in healthcare settings. An integrative model was developed based on various qualitative analyses of these testimonies and relevant literature. The integrative model showcases that morally problematic situations have causes (i.e., contextual and relational factors, personal factors, jeopardized valuations), have affective repercussions (i.e., emotions and feelings, internal tensions), prompt action (i.e., through empowerment strategies leading to the evolution of situations), and elicit outcomes (i.e., factual consequences, residual emotions and feelings, positive or negative resolutions). In sum, this study advances understanding of the moral experiences of adults living with rare diseases while proposing a comprehensive conceptual tool to guide future empirical bioethics research on moral experiences.
罕见病是指患病率低于 1/2000 的疾病，目前科学界和医学界对其了解甚少。由于适当的诊断和治疗方法稀缺，这给患有慢性疾病的患者带来了更大的负担。在对患有罕见病的成年人进行的定性研究中，罕见病经历的道德意义往往被忽视。实用主义伦理学中出现的道德困境概念，有望帮助我们理解这些经历。本研究的目的是：（1）深入了解魁北克省成年人在罕见病方面的道德困境；（2）制定一个综合的道德困境概念模型。为此，我们通过参与式行动研究项目，开发了一项针对该人群的在线调查。调查对象提供了 90 份关于他们在医疗保健环境中面临的最重要的道德困境的长篇证词。我们根据这些证词和相关文献的各种定性分析，开发了一个综合模型。该综合模型展示了道德困境的原因（即，背景和关系因素、个人因素、受损的价值观）、情感后果（即，情绪和感受、内部紧张）、行动诱因（即，通过赋予权力的策略来推动情况的发展）和结果（即，实际后果、残留的情绪和感受、积极或消极的解决）。总之，本研究深入了解了成年人患有罕见病的道德体验，同时提出了一个全面的概念工具，为未来关于道德体验的生物伦理学实证研究提供指导。
