Geisinger eGenonic Medicine (GeM) Program

盖辛格电子基因医学 (GeM) 计划

• 批准号: 8725716
• 负责人: David J. Carey
• 金额: $ 100.92万
• 依托单位: GEISINGER CLINIC
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-08-15 至 2015-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8725716
• 关键词: Abdominal Aortic Aneurysm; Address; Adoption; Ambulatory Surgical Procedures; Area; Attitude; Biological; Blood specimen; Cardiovascular Diseases; Caring; Catchment Area; Chronic Disease; Clinic; Clinical; Clinical Data; Communication; Communities; Comprehensive Health Care; Computerized Medical Record; Confidentiality; Confidentiality of Patient Information; Consent; County; DNA; Data; Databases; Disease; Documentation; Education; Electronics; Engineering; Enrollment; Environment; Focus Groups; Foundations; Future; Genetic; Genetic Research; Genomics; Goals; Group Practice; Health Insurance; Health Services Accessibility; Health system; Healthcare; Hospitals; Human; Information Technology; Inpatients; Institutional Review Boards; Integrated Health Care Systems; Intelligence; Investments; Knowledge; Link; Malignant Neoplasms; Medicine; Metabolic Diseases; Morbid Obesity; Not Hispanic or Latino; Obesity; Outpatients; Patients; Pennsylvania; Pharmaceutical Preparations; Pharmacy facility; Phase; Phenotype; Physicians; Population; Primary Health Care; Principal Investigator; Process; Provider; Public Health; Research; Research Infrastructure; Resources; Rural; Rural Population; Sampling; Schedule; Serum; Software Tools; Surveys; System; Testing; Tissues; Treatment outcome; Variant; Weight Gain; base; biobank; clinical care; clinical practice; clinically relevant; disorder risk; ethical legal social implication; experience; genetic variant; health care delivery; health information technology; innovation; medical specialties; medically underserved; novel; patient population; programs; repository; response; rural area; tool; treatment response

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.

描述（由申请人提供）：Geisinger Health System（GHS）是一种综合，全面的医疗保健提供系统，为宾夕法尼亚州中北部中部和东北部的大型，稳定，主要是农村人口提供服务。 Geisinger具有功能齐全的集成电子病历（EMR）系统，并且是EMR和健康信息技术的公认领导者。 GHS因其致力于开发和测试以医疗​​保健提供技术为基础的创新而获得了全国荣誉。 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中提供了范式。为了利用卫生系统的资产进行基因组医学，盖辛格启动了一个创新的生物群体计划，该计划是一个创新的MyCode项目，该计划正在创建一个大型的，中央的患者样本（血液，DNA，血清和血清和组织），与Geisinger EMR中的数据链接，以保护患者信息的机密信息，以供广泛的研究使用。超过30,000名Geisinger患者同意参加生物群体计划。 EMR链接的生物循环银行用于心血管疾病，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。通过这种应用，GHS正在寻求纳入出现的II期。该Geisinger Egenomic Medicine（GEM）计划的具体目的是：1）使用现有的生物测量和EMR产生的表型（Ephenotypes）来鉴定与疾病风险增加或治疗反应改变相关的遗传变异；拟议的新ephenotypes是极端肥胖和相关疾病，腹主动脉瘤以及抗精神药物诱导的体重增加。 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基因组医学研究的患者的社会文化问题。参与Emerge II阶段将基本上加速Geisinger的目标，即使用其综合医疗保健系统，稳定的患者人群以及高级EMR能力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学的必要步骤；电子病历数据具有加速这一过程的巨大潜力。 Geisinger具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的理想环境，并将基因组数据整合到临床护理中。

项目成果

Integration of genomics into the electronic health record: mapping terra incognita.

• DOI: 10.1038/gim.2013.102
• 发表时间: 2013-10
• 期刊: Genetics in medicine : official journal of the American College of Medical Genetics

The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.

• DOI: 10.1038/gim.2015.187
• 发表时间: 2016-09
• 期刊: Genetics in medicine : official journal of the American College of Medical Genetics
• 作者: Carey DJ;Fetterolf SN;Davis FD;Faucett WA;Kirchner HL;Mirshahi U;Murray MF;Smelser DT;Gerhard GS;Ledbetter DH
• 通讯作者: Ledbetter DH

Cost-effectiveness of IL28Β genotype-guided protease inhibitor triple therapy versus standard of care treatment in patients with hepatitis C genotypes 2 or 3 infection.

IL28α 基因型引导的蛋白酶抑制剂三联疗法与丙型肝炎基因型 2 或 3 感染患者标准护理治疗的成本效益。

• DOI: 10.1159/000365939
• 发表时间: 2014
• 期刊: Public health genomics
• 影响因子: 1.7
• 作者: Bock,JonathanA;Fairley,KimberlyJ;Smith,RobertE;Maeng,DanielD;Pitcavage,JamesM;Inverso,NicholasA;Williams,MarcS
• 通讯作者: Williams,MarcS

Population risk factor estimates for abdominal aortic aneurysm from electronic medical records: a case control study.

• DOI: 10.1186/1471-2261-14-174
• 发表时间: 2014-12-04
• 期刊: BMC cardiovascular disorders
• 影响因子: 2.1
• 作者: Smelser DT;Tromp G;Elmore JR;Kuivaniemi H;Franklin DP;Kirchner HL;Carey DJ
• 通讯作者: Carey DJ