【摘要】 随着精准医学和遗传学研究的深入，以家系为单位的临床生物样本资源在揭示遗传病发病机制、实现早期诊断和精准干预方面展现出巨大价值。然而，家系样本的采集、存储、管理和使用涉及复杂的伦理、技术和操作挑战，亟需规范化指导。本共识由多学科专家共同制定，系统阐述了家系临床生物样本管理的核心原则与推荐意见，内容涵盖样本收集对象范围界定、样本类型的优选、标准化存储流程、家系信息的精准识别与关联、伦理与生物安全保障措施，以及样本的合理使用与共享机制。本共识旨在为医疗机构、科研院所和生物样本库提供一套科学、规范、可操作的指导原则，以提升家系样本资源的质量与利用效率，推动遗传病研究及临床转化，并切实保护受试者权益。更多还原

【Abstract】 With the recent advancement of precision medicine and genetic research,pedigree-based clinical biospecimens have demonstrated significant value in elucidating the pathogenesis of genetic diseases,enabling the early diagnosis,and facilitating more precise interventions.However,the collection,storage,management,and usage of pedigree samples involve complex ethical,technical,and operational challenges,necessitating standardized guidance.Developed through collaboration among multidisciplinary experts,this consensus systematically outlines core principles and recommendations for managing pedigree clinical biospecimens.It addresses several key areas including the delineation of participant inclusion criteria,optimal sample types,standardized storage protocols,accurate identification and linkage of pedigree information,ethical and biosafety safeguards,as well as mechanisms for appropriate sample use and data sharing.This consensus aims to provide a scientific,standardized,and actionable framework for healthcare institutions,research organizations,and biobanks to enhance the quality and utilization efficiency of pedigree sample resources,aiming to advance genetic disease research and clinical translation,and rigorously protect participants’ rights and interests.更多还原