Quintal Ariane, Carreau Isabelle, Grenier Annie-Danielle, Hébert Caroline, Yergeau Christine, Berthiaume Yves, Racine Eric
Pragmatic Health Ethics Research Unit, Institut de recherches cliniques de Montréal, Montréal, QC, Canada.
Département de médecine sociale et préventive, Université de Montréal, Montréal, QC, Canada.
J Particip Med. 2023 Nov 23;15:e46607. doi: 10.2196/46607.
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.
This paper presents an ethical action plan for rare disease care and the process underlying its development.
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.
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.
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.
由于罕见病的患病率较低，科学文献和临床实践指南对其关注不足。因此，医护人员在为这些了解甚少的病症提供及时诊断、恰当治疗和支持方面准备不足。患者将这些临床困境视为道德挑战，危及他们的人生轨迹、梦想和抱负。
本文提出了一项罕见病护理的伦理行动计划及其制定过程。
该行动计划是通过伦理与罕见病工作组进行的伦理调查设计而成，该工作组包括3名患者代表、2名临床研究人员以及魁北克罕见病协会的1名代表。
该计划分为4个部分。A部分阐述了患者面临的关键道德挑战，即医护人员对罕见病缺乏了解、有时由此引发的问题态度以及患者所经历的痛苦和无助感。B部分强调了罕见病护理中患者伙伴关系的愿景，其特点是医护人员要有开放的心态、同理心、尊重并支持患者的自主权。C部分概述了这一愿景引发的2项行动方案：提高医护人员的认识并增强患者驾驭自身护理的能力。D部分比较了几种有助于在罕见病护理中整合这2项行动方案的干预措施。
总体而言，该行动计划是一个工具箱，为政策制定者、医院管理人员、从业者、研究人员和患者协会提供了多种可能的干预措施，供其批判性地思考罕见病患者所面临的关键道德挑战以及缓解这些挑战的方法。本文还促使人们思考罕见病护理背后的价值观、患者经历以及医护人员的信念和行为。医护人员和患者是该行动计划的主要受益者。
