Integrated Hamilton Storage System to Support the UMBioBank

描述（由申请人提供）：医疗保健正在迅速向“个性化医疗”的方向发展，为个体患者量身定制决策和医疗实践，利用基因组发现的力量来确定治疗类型、剂量，甚至预测发展疾病的风险。由于每个病人都是独一无二的，基于个人基因组成的定制治疗将有助于提高医疗保健的有效性，并最终通过提高效率降低医疗保健成本。虽然单基因疾病很容易，但发现复杂疾病的遗传基础是具有挑战性的。全基因组关联研究利用大量来自特征明确的患者的样本，揭示了1000多个与复杂疾病和特征相关的位点，如糖尿病、心血管疾病和中风等。马里兰大学的个性化和基因组医学项目于2011年4月启动。该计划的目标是推进个性化和基因组医学的基础和临床研究发现，并在马里兰大学医疗系统（UMMS）的患者护理中实施基于证据的个性化医学。为了实现这一目标，我们已经开始了两个主要的生物银行项目。UMMS生物银行将在未来几年内从至少10万名患者中收集与详细表型数据和EMR相关的样本。阿米什人健康项目旨在确定居住在宾夕法尼亚州兰开斯特的所有成年阿米什人，大约有12000人。此外，马里兰大学医学院（UMSOM）收藏了各种专注于特定疾病的研究样本。将这些生物银行集中起来将在它们之间产生协同效应，并为建立标准化实践提供框架，以管理未来的银行工作。为了支持现有馆藏并为新馆藏提供足够的存储空间，我们建议使用Hamilton Storage Technologies的全自动系统来支持UMBioBank，该系统将存储与样品处理以及从单变异基因分型到全基因组测序的自动化程序集成在一起。该存储系统将使用-80°C和-20°C的存储单元组合存储50万份DNA样本，7.5万份淡黄色外套和5万份RNA样本，所有这些都与自动化液体处理平台相连。该系统将被安置在CLIA和cap认可的实验室新装修的空间中，该空间靠近其他临床研究实验室，以方便使用储存的样品。提出了一个管理计划，解决了向样本库添加样本和访问样本库的政策。联索特派团和联索特派团正在提供大量资源，以支持联索特派团生物银行。这笔拨款的目标是获得建立UMBioBank的必要设备，特别是支持样本收集、处理、DNA提取、存储和样本检索，以促进样本的使用和共享，用于个性化和基因组医学的发现，并将其转化为改善患者护理。

DESCRIPTION (provided by applicant): Healthcare is rapidly moving towards a "personalized medicine" approach, tailoring decisions and medical practices to individual patients, harnessing the power of genomic discoveries to determine the type of treatment, the dosage, and even prospectively predicting the risk of developing disease. As each patient is unique, customizing treatment based on that individual's genetic make-up will serve to improve the effectiveness of healthcare and ultimately cut healthcare costs through improved efficiencies. While easy for monogenic disorders, discovering the genetic basis for complex disorders is challenging. Genome-wide association studies employing large numbers of samples from well-characterized patients have unveiled more than 1000 loci associated with complex diseases and traits such as diabetes, cardiovascular disease and stroke to name a few. The University of Maryland's Personalized and Genomic Medicine Program was initiated in April 2011. The goal of this Program is to advance basic and clinical research discovery in personalized and genomic medicine and to implement evidence-based personalized medicine into patient care at the University of Maryland Medical System (UMMS). Toward this goal we have begun two major biobanking projects. The UMMS Biobank will collect samples from at least 100,000 patients linked to detailed phenotype data and the EMR over the next several years. The Amish Wellness Project aims to ascertain essentially all adult Amish living in Lancaster, PA, approximately 12,000 individuals. In addition, the University of Maryland School of Medicine (UMSOM) houses a variety of research sample collections that focus on specific diseases. Centralizing these Biobanks will create synergies between them and provide the framework to establish standardized practices to govern future banking efforts. To support existing collections and provide adequate space for banking new collections, we propose to support the UMBioBank with a fully automated system by Hamilton Storage Technologies that integrates storage with sample processing and automating procedures from genotyping of single variants to whole genome sequencing. The storage system will allow banking of 500,000 DNA samples, 75,000 buffy coats, and 50,000 RNA samples using a combination of -80¿C and -20¿C storage units, all linked to an automated liquid handling platform. The system will be housed in newly renovated space in a CLIA- and CAP-accredited laboratory, in space proximal to other clinical research laboratories, to facilitate use of banked samples. A management plan is presented that addresses policies for adding samples to the bank, and access to banked samples. The UMSOM and UMMS are providing substantial resources to support the UMBioBank. The goal of this grant is to acquire the essential equipment to establish the UMBioBank, specifically, to support sample collection, processing, DNA extraction, storage and sample retrieval to facilitate use and sharing of samples for discoveries in personalized and genomic medicine and their translation into improved patient care.