Evaluation of Clinical Practice Guidelines for Rare Diseases in Japan

Tomoe Uchida; Yoshimitsu Takahashi; Hiromitsu Yamashita; Yuriko Nakaoku; Tomoko Ohura; Takashi Okura; Yuko Masuzawa; Masayoshi Hosaka; Hiroshi Kobayashi; Tami Sengoku; Takeo Nakayama

doi:10.31662/jmaj.2022-0094

Evaluation of Clinical Practice Guidelines for Rare Diseases in Japan

JMA J. 2022 Oct 17;5(4):460-470. doi: 10.31662/jmaj.2022-0094. Epub 2022 Sep 30.

Affiliations

¹ Department of Health Informatics, Kyoto University School of Public Health, Kyoto, Japan.
² Department of Preventive Medicine and Epidemiology, National Cerebral and Cardiovascular Center, Suita, Japan.
³ Division of Occupational Therapy, Department of Rehabilitation, Faculty of Health Sciences, Naragakuen University, Nara, Japan.
⁴ Department of Health and Welfare, Graduate School of Health and Welfare Science, Okayama Prefectural University, Soja, Japan.
⁵ St. Luke's International University, Tokyo, Japan.

Abstract

Introduction: 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.

Methods: 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."

Results: 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.

Conclusions: 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.

Keywords: Clinical practice guideline; evidence-based medicine; illnesses; informed decision-making; non-medical resources; rare diseases.