骨科退行性疾病临床与生物样本整合平台的建立

Establishment of clinical and biospecimen information integration platform for orthopaedic degenerative diseases

目的建立符合国际标准、高质量的骨科退行性疾病生物样本和临床信息资源库，为骨科退行性疾病的早期诊断、预警体系提供资源平台。方法建立纳入与排除标准；建立工作人员组织机构；建立知情同意程序；完成基础设施建设；建立生物样本手机与储存的标准化操作流程及管理体系；制定出生物样本库的信息化建设方案；建立标准操作程序并进行内部质量控制。收集骨科退行性疾病住院患者及健康志愿者的生物学样本（空腹血两份：抗凝血与非抗凝血各10ml），进行数据库信息化管理。结果完成了骨科退行性疾病生物样本库的组织管理体系、规范流程、设施、信息体系及实体库的建设：从2010年1月至2014年12月，共收集6819例骨科退行性疾病患者，男3520例，女3299例；相应的生物学样本共36403份；对样本资源库进行有效利用，样本出库率为29．33％（2000／6819），用于骨科退行性疾病基因多态性、分子生物学等多项研究；开展的前瞻陛队列研究，收集453例（男194例，女259例）对照组健康人群的临床信息、影像诊断信息和生物样本。结论建立具有国际标准、高质量的骨科退行性疾病资源库是提高骨科应用基础研究和临床医疗水平，实现个体化医学的重要保证。

Objective To establish a orthopedic high-quality biobank in accordance with international standards, which includes clinical information and biospecimen, and to provide a resource platform for early diagnosis and early warning systems of orthopaedic degenerative disease. Methods First the criteria of inclusion and exclusion were established. Second, the organiza- tion, informed consent procedure, standard operating procedures and biological information platform were set up. According to the standard operating procedures, biological samples were collected from inpatients who suffered from orthopaedic degenerative dis- eases and healthy volunteers. Results The biological sample library for orthopaedic degenerative disease, including organization- al andmanaging system, standardized process, infrastructure, information system and entitative specimen library were established. From January 2010 to December 2014, clinical data of 6 819 patients and 36 403 samples of blood and tissues have been collected. 29.33% （2 000/6 819） of the samples from Biobank were used for research projects. Conclusion Establishment of international standardized and high-quality biobank for orthopaedic degenerative disease is an important guarantee for improving the level of the orthopaedic basic research and clinical medicine, which may help to realize the ＂precision medicine＂.