遗传与基因组医学专科临床实践指南写作的指导原则

Principles guiding the development of clinical practice guidelines for medical genetics and genomics specialty

建立遗传与基因组学医学专科的临床实践指南,是将基础和临床遗传学研究转化为循证与精准临床服务的关键步骤。本文简要阐述了撰写高质量、高可信度临床实践指南的基本原则,并根据这些原则叙述了医学遗传专科指南的管理架构、写作流程、审核程序和应用评估,重点介绍了通过系统回顾相关文献总结特定遗传病筛査、诊断、咨询、治疗和预防方法的循证依据,以及高质量医学遗传专业指南写作和审核的具体要求。这些指导原则和具体要求可以保证指南写作的循证方法和建议内容符合现行的国际标准,并具备特定临床目的、适用范围和时效追踪。指南的实施可以促进基础和临床遗传研究成果的转化,推进医学遗传专科的科研合作和多学科跨专业临床实践指南的协同,为遗传病患者和亲属提供有效和安全的临床服务。

The development of clinical practice guidelines for medical genetics and genomics specialty is a key step in translating basic and clinical genetic research into evidence-based and precision clinical services.This paper briefly expounds the principles of writing high-quality and trustworthy clinical practice guidelines.According to these principles,the management framework,writing process,review and revision procedures,and application monitoring of medical genetic specialty guidelines are described.Systematic review of relevant literature for evidence applicable to the screening,diagnosis,counseling,treatment and prevention of specific genetic diseases is summarized.Specific requirements for writing and reviewing high-quality professional guidelines for medical genetics are introduced.These principles and requirements can ensure that the evidence-based methods and recommendations in the written guidelines conform to current international standards and have specific clinical purposes,scope of practice and time-tracking mechanism.Implementation of such guidelines can promote the translation of basic and clinical genetic research,promote cooperation of medical genetics and other clinical specialties and coordination of interdisciplinary clinical practice guidelines,and provide effective and safe clinical services for patients and their families.