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中文摘要
翻译
盖辛格健康系统(GHS)已经做好了充分的准备,准备作为地区医疗中心医疗保健提供者注册中心参与精准医学计划(PMI)。GHS是一个综合的医疗保健提供系统,服务于新泽西州和宾夕法尼亚州的地区,总人口为300万英镑,其中很大一部分居住在小城镇和农村地区。这一地区农村人口稠密,社会经济和健康差距很大。人口的显著特点是迁入/迁出该地区的比率非常低,以及大量多代家庭在这一单一的综合系统中接受医疗保健。这种稳定性为基因组学研究和实施提供了巨大的机会--以及该系统与其患者之间具有百年历史的信任传统。简而言之,GHS患者代表了总体上农村、服务不足和较低的社会经济人口,这是PMI多样性的重要组成部分。作为利用电子病历和临床信息学的先驱,GHS于1996年采用了EPIC,现在拥有其患者20年的纵向临床数据。除了EPIC,我们还拥有完善的企业临床数据仓库,从EHR和数据仓库中提取临床信息的丰富经验,以及已经在精确医学研究方面与我们合作的患者群体。这种合作关系可以追溯到2006年,当时GHS在与患者和其他利益相关者广泛接触后,创建了一个全系统的基因组研究计划,即MyCode®社区健康倡议。MyCode®旨在从医疗系统招募参与者,无论其健康状况或疾病状况如何,现在通过结果返回计划为精确医学研究和基因组医学的实施提供了一个有效的框架。到目前为止,MyCode®已经招募了113,000名≥参与者,他们都拥有涵盖初级、专科、住院和紧急护理的广泛的纵向电子病历数据(平均为13年),以及用于与包括环境数据在内的公共数据库集成的地理编码。MyCode®密切反映了国家采购经理人指数队列的拟议设计,包括参与者参与;对广泛研究用途的知情同意;数据共享和结果返回;纵向电子病历数据;通过不同的机制和参与战略(在线患者门户网站、移动技术、邮件和电话调查以及面对面互动)收集额外的参与者数据。MyCode®展示了GHS在精准医疗方面的能力。我们建议利用我们的MyCode®经验和基础设施以及PMI指导委员会定义的其他要素,在GHS创建一个单独的PMI招聘计划。庞大稳定的人群和长期的信任关系相结合,使盖辛格成为PMI等纵向研究的完美场所。
英文摘要
Geisinger Health System (GHS) is fully prepared and “shovel-ready” to participate as a Regional Medical Center Healthcare Provider Enrollment Center for the Precision Medicine Initiative (PMI). GHS is an integrated healthcare delivery system serving regions in New Jersey and Pennsylvania with a total population of >3M, of which a significant portion resides in small towns and rural areas. This area is densely rural, with significant socioeconomic and health disparities. The population is notable for its very low rate of relocation in/out of the area and the large number of multi-generation families receiving their healthcare in this single integrated system. This stability provides tremendous opportunity for genomics research and implementation – along with a century-old tradition of trust between the system and its patients. In brief, GHS patients represent a generally rural, underserved and lower socio-economic population, an important component of PMI diversity. A pioneer in utilization of EHRs and clinical informatics, GHS adopted Epic in 1996 and now has two decades of longitudinal clinical data on its patients. In addition to Epic, we have a well-established comprehensive enterprise clinical data warehouse, extensive experience extracting clinical information from the EHR and data warehouse and a patient population already partnering with us in precision medicine research. That partnership dates back to 2006 when after extensive engagement with patients and other stakeholders, GHS created a system-wide program for genomics research, the MyCode® Community Health Initiative. MyCode® is designed to recruit participants, regardless of health or disease status, from the health system and now provides an effective framework for precision medicine research and implementation of genomic medicine through a return of results program. To date, MyCode® has enrolled ≥113,000 participants, all of whom have extensive longitudinal EHR data (average of ~13 years) covering primary, specialty, inpatient, and emergency care, as well as geocoding for integration with public databases including environmental data. MyCode® closely mirrors the proposed design of the national PMI cohort including participant engagement; informed consent for broad research use; data sharing and return of results; longitudinal EHR data; collection of additional participant data via diverse mechanisms and engagement strategies (online patient portal, mobile technologies, mail and telephone surveys, and in-person interactions). MyCode® demonstrates GHS’s capabilities in precision medicine. We propose to leverage our MyCode® experience and infrastructure with the additional elements defined by the PMI Steering Committee to create a separate PMI recruitment initiative at GHS. The combination of a large stable population and a long standing trusting relationship makes Geisinger the perfect place for longitudinal studies like the PMI.
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Leveraging rare genetic etiologies to advance knowledge and treatment of neuropsychiatric disorders
  • 批准号:
    9761734
  • 项目类别:
  • 资助金额:
    $173.83万
  • 财政年份:
    2019
  • 负责人:
    David H. Ledbetter
  • 依托单位:
Leveraging rare genetic etiologies to advance knowledge and treatment of neuropsychiatric disorders
  • 批准号:
    10597665
  • 项目类别:
  • 资助金额:
    $182.67万
  • 财政年份:
    2019
  • 负责人:
    David H. Ledbetter
  • 依托单位:
Leveraging rare genetic etiologies to advance knowledge and treatment of neuropsychiatric disorders
  • 批准号:
    10400634
  • 项目类别:
  • 资助金额:
    $184.51万
  • 财政年份:
    2019
  • 负责人:
    David H. Ledbetter
  • 依托单位:
A Unified Clinical Genomics Database
  • 批准号:
    8503747
  • 项目类别:
  • 资助金额:
    $296.19万
  • 财政年份:
    2013
  • 负责人:
    David H. Ledbetter
  • 依托单位:
国内基金
海外基金
层出镰刀菌氮代谢调控因子AreA 介导伏马菌素 FB1 生物合成的作用机理
  • 批准号:
    2021JJ40433
  • 项目类别:
    省市级项目
  • 资助金额:
    --
  • 批准年份:
    2021
  • 负责人:
    孙磊
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寄主诱导梢腐病菌AreA和CYP51基因沉默增强甘蔗抗病性机制解析
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    32001603
  • 项目类别:
    青年科学基金项目
  • 资助金额:
    24.0万元
  • 批准年份:
    2020
  • 负责人:
    段真珍
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AREA国际经济模型的移植.改进和应用
  • 批准号:
    18870435
  • 项目类别:
    面上项目
  • 资助金额:
    2.0万元
  • 批准年份:
    1988
  • 负责人:
    史树中
  • 依托单位: