背景:由于其患病率低,罕见疾病在科学文献和临床实践指南中很少涉及。因此,医护人员没有足够的能力提供及时的诊断,适当的治疗,以及对这些知之甚少的条件的支持。这些临床磨难被患者视为道德挑战,危及他们的生命轨迹,梦想,和愿望。
目的:本文提出了针对罕见病护理的伦理行动计划及其开发过程。
方法:该行动计划是通过伦理与罕见疾病工作组进行的伦理调查设计的,其中包括3名患者伴侣,2名临床医生研究人员,1名代表来自魁北克罕见疾病协会。
结果:该计划分为4个组成部分。成分A介绍了患者遇到的关键道德挑战,这是医护人员缺乏对罕见疾病的知识,它有时会引发的有问题的态度,以及患者所经历的痛苦和无能为力。组分B强调了以开放态度为特征的罕见疾病护理中患者伙伴关系的愿景。同理心,尊重,以及医护人员对患者自主权的支持。C部分概述了这一愿景所推动的2个行动方案:提高医护人员的意识,并赋予患者更好的护理能力。成分D比较了几种干预措施,这些干预措施可以帮助将这两种作用方案整合到罕见疾病护理中。
结论:总体而言,该行动计划代表了一个工具箱,为决策者提供了多种可能的干预措施的审查,医院经理,从业者,研究人员,和患者协会批判性地反思罕见疾病患者所经历的关键道德挑战以及减轻这些挑战的方法。本文还促使人们反思罕见病护理的价值观,患者体验,以及医护人员的信念和行为。卫生保健工作者和患者是该行动计划的主要受益者。
BACKGROUND: Owing to their low prevalence, rare diseases are poorly addressed in the scientific literature and clinical practice guidelines. Thus, health care workers are inadequately equipped to provide timely diagnoses, appropriate treatment, and support for these poorly understood conditions. These clinical tribulations are experienced as moral challenges by patients, jeopardizing their life trajectories, dreams, and aspirations.
OBJECTIVE: This paper presents an ethical action plan for rare disease care and the process underlying its development.
METHODS: This action plan was designed through an ethical inquiry conducted by the Ethics and Rare Diseases Working Group, which included 3 patient partners, 2 clinician researchers, and 1 representative from Québec\'s rare disease association.
RESULTS: The plan is structured into 4 components. Component A presents the key moral challenges encountered by patients, which are the lack of knowledge on rare diseases among health care workers, the problematic attitudes that it sometimes elicits, and the distress and powerlessness experienced by patients. Component B emphasizes a vision for patient partnership in rare disease care characterized by open-mindedness, empathy, respect, and support of patient autonomy from health care workers. Component C outlines 2 courses of action prompted by this vision: raising awareness among health care workers and empowering patients to better navigate their care. Component D compares several interventions that could help integrate these 2 courses of action in rare disease care.
CONCLUSIONS: Overall, this action plan represents a toolbox that provides a review of multiple possible interventions for policy makers, hospital managers, practitioners, researchers, and patient associations to critically reflect on key moral challenges experienced by patients with rare diseases and ways to mitigate them. This paper also prompts reflection on the values underlying rare disease care, patient experiences, and health care workers\' beliefs and behaviors. Health care workers and patients were the primary beneficiaries of this action plan.