Geisinger eGenonic Medicine (GeM) Program

描述（由申请人提供）：盖辛格卫生系统（GHS）是一个综合的，全面的医疗保健提供系统，服务于宾夕法尼亚州中北部和东北部的大型，稳定的，主要是农村人口。Geisinger拥有功能齐全的集成电子病历（EMR）系统，是使用EMR和健康信息技术的公认领导者。GHS因致力于开发和测试信息技术支持的医疗保健创新而获得国家赞誉。Geisinger在这一领域的基础设施和经验为将基因组数据纳入临床护理提供了范例。为了利用卫生系统的基因组医学资产，Geisinger启动了一个创新的生物库计划，即MyCode项目，该项目正在创建一个大型的中央患者样本库（血液，DNA，血清和组织），这些样本将在Geisinger EMR中存储数据，以保护患者信息的机密性，用于广泛的研究用途。超过30，000名Geisinger患者同意参加生物库计划。与EMR相关的生物样本库正在用于心血管疾病、肥胖症、癌症和其他具有重大公共卫生影响的疾病的基因组研究。通过这一申请，GHS正在寻求纳入eMERGE第二阶段。该Geisinger eGenomic Medicine（GeM）计划的具体目标是：1）使用现有的生物标本和EMR生成的表型（e表型），以确定与增加的疾病风险或改变治疗反应相关的遗传变异;提出的新e表型是极端肥胖和相关疾病，腹主动脉瘤和抗精神病药物引起的体重增加; 2）开发和测试方法，为患者和临床提供者提供临床相关的遗传研究结果; 3）研究居住在农村地区的患者对基因组医学研究的社会文化关注。参与eMERGE第二阶段将大大加快Geisinger的目标，即利用其集成的医疗保健系统、稳定的患者群体和先进的EMR功能来推动个性化医疗保健。 相关性：将基因组数据整合到临床实践中是采用个性化医疗的必要步骤;电子病历数据具有加速这一过程的巨大潜力。Geisinger拥有独特的资源和经验组合，使其成为基因组医学研究的发现和应用阶段以及将基因组数据整合到临床护理中的理想环境。

DESCRIPTION (provided by applicant): Geisinger Health System (GHS) is an integrated, comprehensive health care delivery system that serves a large, stable, mainly rural population in north central and northeastern Pennsylvania. Geisinger has a fully functional and integrated electronic medical record (EMR) system, and is a recognized leader in the use of EMR and health information technology. GHS has received national accolades for its commitment to developing and testing information technology-enabled innovations in health care delivery. Geisinger's infrastructure and experience in this area provide a paradigm for incorporating genomic data into clinical care. To leverage the health system's assets for genomic medicine Geisinger launched an innovative biobanking program, the MyCode project that is creating a large, central repository of patient samples (blood, DNA, serum and tissue) that are linkable to data in the Geisinger EMR for broad research use in a manner that protects confidentiality of patient information. More than 30,000 Geisinger patients have consented to participate in the biobanking program. The EMR-linked biospecimen bank is being used for genomic research in cardiovascular disease, obesity, cancer, and other disorders with significant public health impact. Through this application GHS is seeking inclusion in the eMERGE Phase II. The specific aims of this Geisinger eGenomic Medicine (GeM) program are to: 1) use existing biospecimens and EMR- generated phenotypes (ePhenotypes) to identify genetic variants associated with increased disease risk or altered treatment response; proposed new ePhenotypes are extreme obesity and related conditions, abdominal aortic aneurysm, and weight gain induced by anti-psychotic drugs; 2) develop and test approaches to provide clinically relevant genetic research results to patients and clinical providers; and 3) study sociocultural concerns of patients residing in rural areas regarding Genomic Medicine research. Participation in eMERGE Phase II will substantially accelerate Geisinger's goal of using its integrated health care system, stable patient population, and advanced EMR capabilities to drive Personalized Health Care. RELEVANCE: The integration of genomic data into clinical practice is a necessary step in the adoption of Personalized Medicine; electronic medical record data have enormous potential to accelerate this process. Geisinger has a unique combination of resources and experience that make it an ideal setting for both the discovery and application phases of genomic medicine research and integration of genomic data into clinical care.