Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Department of Paediatrics, LKH Bregenz, Bregenz, Austria.
J Inherit Metab Dis. 2023 Sep;46(5):796-805. doi: 10.1002/jimd.12622. Epub 2023 May 11.
Patient reported outcomes (PROs) are generally defined as 'any report of the status of a patient's health condition that comes directly from the patient, without interpretation of the patient's response by a clinician or anyone else'. A broader definition of PRO also includes 'any information on the outcomes of health care obtained directly from patients without modification by clinicians or other health care professionals'. Following this approach, PROs encompass subjective perceptions of patients on how they function or feel not only in relation to a health condition but also to its treatment as well as concepts such as health-related quality of life (HrQoL), information on the functional status of a patient, signs and symptoms and symptom burden. PRO measurement instruments (PROMs) are mostly questionnaires and inform about what patients can do and how they feel. PROs and PROMs have not yet found unconditional acceptance and wide use in the field of inborn errors of metabolism. This review summarises the importance and usefulness of PROs in research, drug legislation and clinical care and informs about quality standards, development, and potential methodological shortfalls of PROMs. Inclusion of PROs measured with high-quality, well-selected PROMs into clinical care, drug legislation, and research helps to identify unmet needs, improve quality of care, and define outcomes that are meaningful to patients. The field of IEM should open to new methodological approaches such as the definition of core sets of variables including PROs to be systematically assessed in specific metabolic conditions and new collaborations with PRO experts, such as psychologists to facilitate the systematic collection of meaningful data.
患者报告结局（PROs）通常被定义为“患者健康状况的任何报告，直接来自患者，无需临床医生或其他任何人对患者的反应进行解释”。PRO 的更广泛定义还包括“从患者那里直接获得的关于医疗保健结果的任何信息，而无需临床医生或其他医疗保健专业人员进行修改”。按照这种方法，PRO 涵盖了患者对其功能或感受的主观认知，不仅与健康状况有关，而且与治疗以及健康相关生活质量（HrQoL）等概念有关，如患者的功能状态、体征和症状以及症状负担。PRO 测量工具（PROMs）主要是问卷，用于了解患者的能力和感受。PROs 和 PROMs 在先天性代谢缺陷领域尚未得到无条件接受和广泛应用。这篇综述总结了 PROs 在研究、药物立法和临床护理中的重要性和有用性，并介绍了 PROMs 的质量标准、开发和潜在方法学缺陷。将使用高质量、精心选择的 PROMs 测量的 PROs 纳入临床护理、药物立法和研究有助于确定未满足的需求、提高护理质量，并定义对患者有意义的结局。IEM 领域应该采用新的方法学方法，例如定义包括 PROs 的核心变量集，以便在特定代谢情况下进行系统评估，并与 PRO 专家（如心理学家）建立新的合作关系，以促进有意义数据的系统收集。
