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、全面的卫生保健提供系统，服务于宾夕法尼亚州中北部和东北部的大量稳定的、主要是农村人口。Geisinger拥有功能齐全的综合电子病历（EMR）系统，是公认的EMR和健康信息技术应用的领导者。全球卫生系统致力于开发和测试保健服务方面的信息技术创新，因此获得了全国的赞誉。Geisinger在该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，盖辛格启动了一项创新的生物银行计划，即MyCode项目，该项目正在创建一个大型的患者样本（血液，DNA，血清和组织）中央存储库，这些样本可与盖辛格电子病历中的数据链接，以保护患者信息的机密性，用于广泛的研究用途。超过3万名盖辛格患者已经同意参与生物银行项目。与电子病历相关的生物标本库正被用于心血管疾病、肥胖、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。Geisinger基因医学（GeM）项目的具体目标是：1)使用现有的生物标本和EMR生成的表型（ePhenotypes）来识别与疾病风险增加或治疗反应改变相关的遗传变异；提出的新表型是极端肥胖及其相关疾病、腹主动脉瘤和抗精神病药物引起的体重增加；2)开发和测试向患者和临床提供者提供临床相关基因研究结果的方法；3)研究农村地区患者对基因组医学研究的社会文化关注。参与eMERGE II期将大大加快Geisinger利用其综合医疗保健系统、稳定的患者群体和先进的电子病历功能来推动个性化医疗保健的目标。

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.