Uchida Tomoe, Takahashi Yoshimitsu, Yamashita Hiromitsu, Nakaoku Yuriko, Ohura Tomoko, Okura Takashi, Masuzawa Yuko, Hosaka Masayoshi, Kobayashi Hiroshi, Sengoku Tami, Nakayama Takeo
Department of Health Informatics, Kyoto University School of Public Health, Kyoto, Japan.
Department of Preventive Medicine and Epidemiology, National Cerebral and Cardiovascular Center, Suita, Japan.
JMA J. 2022 Oct 17;5(4):460-470. doi: 10.31662/jmaj.2022-0094. Epub 2022 Sep 30.
The insufficient quantity and quality of clinical epidemiological evidence in the field of rare diseases have posed methodological challenges to develop clinical practice guidelines (CPGs). Guideline development groups struggle to provide patients and their families with beneficial guidance, such as that for medical care and in complex circumstances. Motivated by the challenges, we focused on information on resources for supporting the daily and social life to improve the CPGs for users. We aimed to assess the methodological quality of CPGs for rare diseases in Japan and to evaluate information on resources to support the daily and social life in the CPGs.
We conducted a systematic search using PubMed, three electronic Japanese databases, and two hand-searched sources in Japan. The Appraisal of Guidelines for Research and Evaluation (AGREE) II instrument with six domains was used to assess the methodological quality of the CPGs. A content analysis of the CPG text was conducted using five keywords as information on non-medical resources, e.g., "Intractable Disease Consultation Support Center," "Japan Intractable Disease Information Center," and "Patient Association."
A total of 55 CPGs met the inclusion criteria. Among four domains of AGREE II with low scores (Stakeholder Involvement, Rigor of Development, Applicability, and Editorial Independence), Rigor of Development had the lowest median score. As for information on non-medical resources, 41 CPGs included at least 1 of the 5 keywords, while 14 CPGs included none.
At the Rigor of Development domain, methodological challenges may have resulted in an insufficient description of items regarding the translation evidence to recommendations. As the sufficiency of five keywords as information on non-medical resources could be improved, the information will be advocative as clues to provide pragmatic guidance, particularly for rare diseases with limited medical evidence.
罕见病领域临床流行病学证据的数量和质量不足，给制定临床实践指南（CPG）带来了方法学上的挑战。指南制定小组难以向患者及其家属提供有益的指导，例如在医疗护理和复杂情况下的指导。受这些挑战的推动，我们专注于支持日常生活和社会生活的资源信息，以改进面向用户的CPG。我们旨在评估日本罕见病CPG的方法学质量，并评估CPG中支持日常生活和社会生活的资源信息。
我们使用PubMed、三个日本电子数据库以及在日本手动检索的两个来源进行了系统检索。使用具有六个领域的《研究与评价指南评估（AGREE）II》工具来评估CPG的方法学质量。使用五个关键词对CPG文本进行内容分析，这些关键词作为非医疗资源的信息，例如“难治性疾病咨询支持中心”、“日本难治性疾病信息中心”和“患者协会”。
共有55份CPG符合纳入标准。在AGREE II得分较低的四个领域（利益相关者参与、制定的严谨性、适用性和编辑独立性）中，制定的严谨性中位数得分最低。至于非医疗资源信息，41份CPG至少包含5个关键词中的1个，而14份CPG则一个都没有包含。
在制定的严谨性领域，方法学上的挑战可能导致在将证据转化为建议方面对项目的描述不足。由于作为非医疗资源信息的五个关键词的充分性可以得到改善，这些信息将作为提供实用指导的线索具有倡导性，特别是对于医学证据有限的罕见病。
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