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

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.