Vanderbilt Genome-Electronic Records Project

描述（由申请人提供）：VGER：范德比尔特基因组电子记录项目个性化医疗的一个重要潜在资源是DNA存储库与电子医疗记录（EMR）系统的结合，该系统足够强大，可以提供卓越的临床护理，并作为分析患者群体疾病易感性和治疗结果的资源。范德比尔特电子病历是一种最先进的临床和研究工具（包括140万份记录），并与一个已经开发了3年多的DNA存储库相关联；这些都是范德比尔特基因组电子记录项目VGER的关键组成部分。VGER模型从常规患者护理中收集的废弃血液样本中获取DNA，并将其与从电子病历中提取并随时更新的去识别数据联系起来。我们将在这里分析的表型是心电图上的QRS持续时间，因为传导缓慢（由较长的QRS持续时间表示）是心律失常易感性的标志。这不仅将利用全基因组协会（GWA）方法的力量来产生影响公共卫生关注领域的新生物学知识，而且还将为开发工具（如自然语言处理方法）提供一个平台，以最佳地挖掘电子病历。该项目汇集了一组在基因组科学、医学伦理学、生物信息学、去识别科学以及转化和心血管医学方面具有全国公认成就的研究人员，以实现四个具体目标：(1)对QRS持续时间在正常范围极值的受试者样本进行GWA比较，并通过基因分型验证QRS持续时间和心律失常易感性在前瞻性确定的临床试验集中的高似然关联；(2)评估EMR数据的结构化和非结构化成分对基因组-表型相关性的有效性和效用；(3)评估VGER模式在伦理、科学和社会方面的优缺点，并确定随着资源的增长进行监督、社区参与和沟通的最佳实践；(4)开发和评估来自数据库和电子病历的数据的正式隐私保护模型，建立数据共享和集成实践。我们还提出了一项发展行政协调中心的建议，该中心的任务是促进该网络节点、NHGRI和外部顾问之间的沟通和协作。我们赞同个性化医疗的愿景，其中基因组和其他患者特定信息驱动个性化，预测性，先发制人和参与性医疗保健，而VGER代表了朝着这个方向迈出的重要一步。

DESCRIPTION (provided by applicant): VGER: The Vanderbilt Genome-Electronic Record project An important potential enabling resource for Personalized Medicine is the combination of a DNA repository with Electronic Medical Record (EMR) systems sufficiently robust to provide excellence in clinical care and to serve as resources for analysis of disease susceptibility and therapeutic outcomes across patient populations. The Vanderbilt EMR is a state of the art clinical and research tool (that includes >1.4 million records), and is associated with a DNA repository which has been in development for over 3 years; these are the key components of VGER, the Vanderbilt Genome-Electronic Records project proposed here. The VGER model acquires DNA from discarded blood samples collected from routine patient care, and can link these to de-identified data extracted and readily updated from the EMR. The phenotype we will analyze here is the QRS duration on the electrocardiogram, since slow conduction (indicated by longer QRS duration) is a marker of arrhythmia susceptibility. This will not only exploit the power of Genome-Wide Association (GWA) approaches to generate new biologic knowledge that impacts an area of public health concern, but also provides a platform for the development of tools, such as Natural Language Processing approaches, to optimally mine EMRs. This project brings together a team of investigators with nationally recognized records of accomplishment in genome science, medical ethics, bioinformatics, de-identification science, and translational and cardiovascular medicine to address four Specific Aims: (1) perform a GWA comparing samples from subjects with QRS durations at the extremes of the normal range, and validate by genotyping high likelihood associations in prospectively ascertained clinical trial sets for QRS duration and for arrhythmia susceptibility; (2) evaluate the validity and utility of structured and unstructured components of EMR data for genome-phenome correlations; (3) assess the ethical, scientific, and societal advantages and disadvantages of the VGER model, and determine best practices for oversight, community involvement, and communication as the resource grows; and (4) develop and evaluate formal privacy protection models for data derived from databanks and EMRs, establishing data sharing and integration practices. We also include here a proposal to develop the Administrative Coordinating Center whose mission will be to facilitate communication and collaboration among nodes in this network, the NHGRI, and external advisors. We subscribe to a vision of Personalized Medicine in which genomic and other patient-specific information drives personalized, predictive, preemptive, and participatory health care, and VGER represents an important step in that direction.