中国人类疾病临床资源样本库建设调研初探

Human disease biobanking in China: results from a primary survey and perspectives

目的通过收集中国人类疾病临床资源样本库的基本信息和相关资料,初步了解中国疾病临床资源样本库的组织架构、规模及其综合能力。方法采用问卷与访谈方式,对11家样本库的设立初衷、组织架构、样本库利用和可持续发展等进行调研,在中国首次利用循证研究模式来论证人类疾病样本库的顶层设计、管理规范和国际合作导向。结果调研中绝大多数样本库附属于医院或科研院所,依靠国家、地方课题和医院专项基金建立;三分之二的样本库成立于最近5年,建立的初衷是满足特定疾病或基础研究的需要;样本库工作人员的构成不尽合理;样本库储存样本的数量不同、类型和方式多样;样本库具有较强的分子生物学检测能力,但病理和细胞学检测能力则相对较弱;样本的有效利用和样本库长期运营经费是未来需要重点关注的问题。结论中国疾病临床资源样本库建设正处于快速上升期,当务之急是加强样本库的顶层设计和管理规范、建立符合国际规范的质控标准、提高专业人员的管理和技术水平、建立符合中国国情的伦理规范。

Objective To establish knowledge of the top-level framework design and interna-tional cooperation , the organization and functioning of biobanks in China by collecting the basic infor -mation and related data .Methods A questionnaire survey was applied on 11 typical disease-oriented biobanks , collecting information on the organizational structure , form of staff, specimen collection and effective usages , and sustainable development of biobanks. Results Almost all biobanks were affiliated within hospital and/or academic institution .The national and provincial government grants , the hospital special funds were the most common and largest sources of establishment funding of these biobanks .Two-third biobanks were established within the last five years .Nearly all biobanks were established intentionally to address particular or general research .The personnel structure of most biobanks was unreasonable .There were tremendous diversity in the biobank sizes and types of speci-men collections .Most biobanks had enough capability in molecular and genetic analysis , whereas their pathological and cellular detection capability was relatively weak .The underutilization of speci-mens and long-term funding of biobanks were the most important issues which should be concerned in future .Conclusion The establishment and development of human diseases biobanks in China are in rapid growth stage .The most imperative issues are to establish the top-level framework structure , strengthen the management and ethical principles , construct the international standard specimens collection and quality control level and develop the professional training .