生物样本库及样本应用现状

目前精准医疗成为热点,生物样本库则在恶性肿瘤、血液病、免疫系统疾病、代谢性疾病、心脑血管疾病等重大疾病的精准医疗过程中扮演着重要角色。样本在“试验台-临床”这个过程中扮演着不可或缺的地位。实体样本库、临床信息库结合的建库思路已经深入人心,但是样本的使用问题则是目前国内遇到的难题。完善立法措施,建立行业规范,保证样本质量,建立可相互兼容的样本库平台是工作的重点。小型生物样本库的建设要立足规范化,立足于自身特色,以样本质量控制及应用为导向进行日常工作。     

Opening of the National Biobank of Korea as the Infrastructure of Future Biomedical Science in Korea

On April 26, 2012, the Korea National Institute of Health officially held the opening ceremony of newly dedicated biobank building, ‘National Biobank of Korea’. The stocked biospecimens and related information have been distributed for medical and public health researches. The Korea Biobank Project, which was initiated in 2008, constructed the Korea Biobank Network consisting of the National Biobank of Korea (NBK) with 17 regional biobanks in Korea. As of December 2011, a total of 525,416 biospecimens with related information have been secured: 325,952 biospecimens from the general population obtained through cohort studies and 199,464 biospecimens of patients from regional biobanks. A large scale genomic study, Korea Association Resource (KARE) and many researches utilized the biospecimens secured through Korea Genome Epidemiology Study (KoGES) and Korea Biobank Project (KBP). Construction of ‘National Biobank of Korea’, a dedicated biobank building at Osong means that NBK can manage and check quality of the biospecimens with promising distribution of 26 million vials of biospecimen, which provide the infrastructure for the development of health technology in Korea. The NBK and the National Library of Medicine (to be constructed in 2014) will play a central role in future biomedical research in Korea.     

A Strategic Plan for the Second Phase (2013–2015) of the Korea Biobank Project

The Korea Biobank Project (KBP) was led by the Ministry of Health and Welfare to establish a network between the National Biobank of Korea and biobanks run by university-affiliated general hospitals (regional biobanks). The Ministry of Health and Welfare started the project to enhance medical and health technology by collecting, managing, and providing researchers with high-quality human bioresources. The National Biobank of Korea, under the leadership of the Ministry of Health and Welfare, collects specimens through various cohorts and regional biobanks within university hospitals gather specimens from patients. The project began in 2008, and the first phase ended in 2012, which meant that there needed to be a plan for the second phase that begins in 2013. Consequently, professionals from within and outside the project were gathered to develop a plan for the second phase. Under the leadership of the planning committee, six working groups were formed to formulate a practical plan. By conducting two workshops with experts in the six working groups and the planning committee and three forums in 2011 and 2012, they have developed a strategic plan for the second phase of the KBP. This document presents a brief report of the second phase of the project based on a discussion with them.During the first phase of the project (2008–2012), a network was set up between the National Biobank of Korea and 17 biobanks at university-affiliated hospitals in an effort to unify informatics and governance among the participating biobanks. The biobanks within the network manage data on their biospecimens with a unified Biobank Information Management System. Continuous efforts are being made to develop a common standard operating procedure for resource collection, management, distribution, and personal information security, and currently, management of these data is carried out in a somewhat unified manner. In addition, the KBP has trained and educated professionals to work within the biobanks, and has also carried out various publicity promotions to the public and researchers. During the first phase, biospecimens from more than 300,000 participants through various cohorts and biospecimens from more than 200,000 patients from hospitals were collected, which were distributed to approximately 600 research projects.The planning committee for the second phase evaluated that the first phase of the KBP was successful. However, the first phase of the project was meant to allow autonomy to the individual biobanks. The biobanks were able to choose the kind of specimens they were going to collect and the amount of specimen they would set as a goal, as well as being allowed to choose their own methods to manage their biobanks (autonomy). Therefore, some biobanks collected resources that were easy to collect and the resources needed by researchers were not strategically collected. In addition, there was also a low distribution rate to researchers outside of hospitals, who do not have as much access to specimens and cases as those in hospitals. There were also many cases in which researchers were not aware of the KBP, and the distribution processes were not set up to be convenient to the demands of researchers.Accordingly, the second phase of the KBP will be focused on increasing the integration and cooperation between the biobanks within the network. The KBP plans to set goals for the strategic collection of the needed human bioresources. Although the main principle of the first phase was to establish infrastructure and resource collection, the key objective of the second phase is the efficient utilization of gathered resources. In order to fully utilize the gathered resources in an efficient way, distribution systems and policies must be improved. Vitalization of distribution, securing of high-value resource and related clinical and laboratory information, international standardization of resource management systems, and establishment of a virtuous cycle between research and development (R&D) and biobanks are the four main strategies. Based on these strategies, 12 related objectives have been set and are planned to be executed.     

脊髓背根神经节ZXDC介导CCL2对慢性压迫性神经损伤小鼠神经性疼痛的作用

目的 探讨脊髓背根神经节(dorsal root ganglion, DRG)中转录因子锌指X连锁复制C(zinc finger X-linked duplicated C,ZXDC)介导CCL2/CCR2信号通路对慢性压迫性神经损伤(chronic construction injury model, CCI)诱导神经性疼痛的作用及机制。方法 构建小鼠坐骨神经慢性压迫性损伤模型,免疫荧光染色、Western blot法和实时荧光定量PCR(RT-qPCR)检测正常情况和CCI造模后DRG中ZXDC及CCL2表达变化;将实验动物分为假手术(Sham)组、CCI+AAV-NC组和CCI+AAV-ZXDC siRNA组;Western blot法和免疫荧光染色检测各组小鼠CCI造模后各时间点DRG中ZXDC、CCL2和CCR2表达,RT-qPCR检测DRG中促炎性细胞因子TNF-α和IL-1β mRNA表达,机械性缩足反射测试检测神经性疼痛行为改变。结果 ZXDC表达定位在DRG大、中、小神经元。CCI损伤后1~3天 DRG中ZXDC和CCL2 蛋白和mRNA表达显著增高,CCI后7天二者表达显著降低,ZXDC和CCL2mRNA表达量呈正相关(P均<0.05)。CCI后3天,与Sham组比较,CCI+AAV-NC组和CCI+AAV-ZXDC siRNA组ZXDC、CCL2、CCR2蛋白表达、TNF-α和IL-1β mRNA表达显著增高,其中CCI+AAV-ZXDC siRNA组较CCI+AAV-NC组ZXDC、CCL2、CCR2蛋白表达、TNF-α和IL-1β mRNA显著降低(P均<0.05)。与Sham组比较,CCI+AAV-ZXDC siRNA组和CCI+AAV-NC组CCI后各时间点机械缩足阈值均显著降低,其中CCI后7天,CCI+AAV-ZXDC siRNA组机械缩足阈值显著高于CCI+AAV-NC组(P均<0.05)。结论 脊髓背根神经节ZXDC基因敲减通过抑制CCL2/CCR2信号通路介导CCI诱导的神经性疼痛。     

Role of biobanking in urology: a review

In the current era of individualized medicine, a biorepository of human samples is essential to support clinical and translational research. There have been limited efforts in this arena within the field of urology, as cost, logistical and ethical issues represent significant deterrents to biobanking. The Johns Hopkins Brady Urological Institute Biorepository was founded in 1994 as a resource to facilitate discovery. Since its inception, the biorepository has enabled numerous research endeavours including pivotal trials leading to the regulatory approval of four diagnostic tests for prostate cancer. In the present review, we discuss the current state of biobanking within urology, outline the specific ethical and financial challenges to biobanking as well as solutions, and describe the operations of a successful urological biorepository.     

临床与生物样本信息整合平台建设

对上海市"临床与生物样本信息整合平台"建设的背景、意义、目标、内容、实现路径、关键技术、问题挑战、应用前景和效益等方面进行了全面阐述。     

Comparison of next generation diagnostic systems (NGDS) for the detection of SARS‐CoV‐2

IntroductionThe World Health Organization (WHO) declared coronavirus disease 2019 (COVID‐19) a pandemic in March 2020. Initially, supply chain disruptions and increased demand for testing led to shortages of critical laboratory reagents and inadequate testing capacity. Thus, alternative means of biosample collection and testing were essential to overcome these obstacles and reduce viral transmission. This study aimed to 1) compare the sensitivity and specificity of Cepheid GeneXpert^® IV and BioFire^® FilmArray^® 2.0 next generation detection systems to detect SARS‐CoV‐2, 2) evaluate the performance of both platforms using different biospecimen types, and 3) assess saline as an alternative to viral transport media (VTM) for sample collection.MethodsA total of 1,080 specimens consisting of nasopharyngeal (NP) swabs in VTM, NP swabs in saline, nasal swabs, oropharyngeal (OP) swabs, and saliva were collected from 216 enrollees. Limit of detection (LoD) assays, NP VTM and NP saline concordance, and saliva testing were performed on the BioFire^® FilmArray^® 2.0 Respiratory Panel 2.1 and Cepheid GeneXpert^® Xpress SARS‐CoV‐2/Flu/RSV assays.ResultsLoD and comparative testing demonstrated increased sensitivity with the Cepheid compared with the BioFire^® in detecting SARS‐CoV‐2 in NP VTM and saline, nasal, and OP swabs. Conversely, saliva testing on the Cepheid showed statistically significant lower sensitivity compared to the BioFire^®. Finally, NP swabs in saline showed no significant difference compared with NP swabs in VTM on both platforms.ConclusionThe Cepheid and BioFire^® NGDS are viable options to address a variety of public health needs providing rapid and reliable, point‐of‐care testing using a variety of clinical matrices.