Illinois Precision Medicine Consortium

1.1概述精准医学旨在利用基因组学、临床表型分析、临床信息学、电子健康记录（EHR）可用性和互操作性以及移动的健康技术等领域不断增长的能力，以提高对人类健康和疾病的理解。对遗传和环境暴露的复杂相互作用的进一步理解，超越了以前在长期观察流行病学研究中所能获得的理解，有望更好地预测、预防和治疗一系列人类疾病，包括冠心病、中风、多种癌症、痴呆症、关节炎和其他导致残疾和过早死亡的主要原因。在国际上，为抓住精准医疗的机会，英国（英国生物银行）、中国嘉道理生物银行和美国（百万退伍军人项目- MVP）的一个选定的亚群进行了大规模的人群聚集。2015年1月，奥巴马总统宣布了精准医学倡议（PMI）计划，以应对这一重大科学机遇。 这是一个统一的多PI应用程序（Greenland、Ahsan、Daviglus和Winn博士）来自伊利诺伊州精准医学联盟（IPMC），代表芝加哥地区3家主要学术机构（西北大学、芝加哥大学和伊利诺伊大学芝加哥分校）及其医疗保健提供者组织（HPO）合作伙伴，针对OT-PM-18-001，有限竞争：所有美国研究计划区域医疗中心医疗保健提供者组织（OT 2）。我们的目标是继续与All of Us Research Program（AoURP）合作，招募和招募多样化的患者人群，使所有年龄组的男女患者总数达到100万或更多，包括健康人群和既往疾病患者（不考虑具体疾病类型），并通过创新的移动的卫生技术、电子健康记录（EHR）、和健康保险索赔数据，使遗传和环境暴露与广泛的健康结果的联系。该联盟汇集了广泛的预先存在的研究资源在3个学术机构，以及广泛的，但地理上不同的，他们的HPO合作伙伴代表众多种族和社会经济多样化的芝加哥和伊利诺伊州社区的服务领域。这些长期的信任关系已经建立。 IPMC迄今已达到并超过了组织、参与国家规划以及成功招募和后勤方面的里程碑。在OT奖期间，我们将继续利用高度参与性和授权的多元化参与者参与和注册模式。从地理和种族多样化的IPMC人口中收集的数据，代表了美国中西部最大和最多样化的城市大都市区，将为AoURP的总体目标增加显著价值，即招募，保留和与100万美国居民互动。在过去的一年里，我们组建了一个由学术研究人员、社区合作伙伴和卫生系统领导人组成的多学科团队。这一应用建立在3个合作机构在收集和保留大型流行病学队列、问卷数据收集、基于社区的参与性研究、少数群体健康研究、遗传研究的EHR联系以及它们已建立和正在进行的跨机构合作方面的集体经验和已证明的成功基础上。 在这个为期5年的项目期间，IPMC计划在第1年至第3年期间每年招收20，000名正式参与者，第4年招收18，000名正式参与者，第5年招收15，000名正式参与者。因此，我们将同意，进行物理测量，收集生物标本，并将策划的数据传输到AoURP数据和研究中心（DRC;范德比尔特大学），并将处理后的生物样本传输到AoURP生物银行（马约诊所），至少有93，000人来自不同的种族，社会和经济背景。此外，我们的目标是扩大我们从IPMC HPO（及其附属机构）的患者中招募，一旦这种能力在技术上可行，就包括直接志愿者（DV）。为了达到入组里程碑，我们将让HPO工作人员、患者和普通社区参与，以获得对HPO队列的支持和参与。我们还将与DV企业合作伙伴（如总部位于伊利诺伊州迪尔菲尔德的Walgreens）合作实施HPO/DV混合战略。我们将继续详细跟踪成功率，包括参与百分比和参与多样性，并为每个参与的HPO确定最有效的招聘策略。我们还将不断调整、完善和引入新的方法，以维持招聘目标。如果可行，我们将采用技术协调中心开发的移动的技术，并不断吸引参与者保持与AoURP的连接。总的来说，学术机构，HPO和社区合作伙伴在此应用程序中提供了无与伦比的专业知识和机会，以达到代表整个美国的地理和人口分布广泛和多样化的人口。大芝加哥和伊利诺伊地区的人口带来了一个独特的机会，研究共同和独特的环境，行为和遗传基础的健康和 可以为未来的精准医疗提供信息的疾病。

1.1 Overview Precision medicine seeks to capitalize on growing capabilities in the areas of genomics, clinical phenotyping, clinical informatics, electronic health record (EHR) availability and interoperability, and mobile health technologies to improve understanding of human health and disease. Improved understanding of the complex interplay of genetic and environmental exposures, beyond those previously available in long-term observational epidemiological research, holds the promise of better prediction, prevention, and treatment of a host of human diseases including coronary heart disease, stroke, numerous cancers, dementing illnesses, arthritis, and other major causes of disability and early death. Internationally, efforts to address the opportunities of precision medicine have led to the assembly of large cohorts in the UK (UK Biobank), the China Kadoorie Biobank, and in a selected sub-population in the US (the Million Veteran Project - MVP). In January 2015, President Obama announced a plan for the Precision Medicine Initiative (PMI) to address this significant scientific opportunity. This is a unified multi-PI application (Drs. Greenland, Ahsan, Daviglus and Winn) from the Illinois Precision Medicine Consortium (IPMC) representing 3 major Chicago-area academic institutions (Northwestern University, University of Chicago, and the University of Illinois at Chicago) and their healthcare provider organization (HPO) partners, in response to OT-PM-18-001, Limited Competition: All of Us Research Program Regional Medical Center Healthcare Provider Organizations (OT2). Our goal is to continue our partnership with the All of Us Research Program (AoURP), to recruit and enroll a diverse patient population, contributing to the overall total of one million or more individuals across all age groups from both sexes, including both healthy people and those with pre-existing diseases (without regard to specific disease type), and to follow them through innovative mobile health technologies, electronic health records (EHR), and health insurance claims data to enable linkage of genetic and environmental exposures with a broad array of health outcomes. This consortium brings together the extensive preexisting research resources across the 3 academic institutions, as well as the widespread, yet geographically distinct, service areas of their HPO partners representing numerous ethnically and socioeconomically diverse Chicago and Illinois communities. These longstanding relationships of trust are well established. The IPMC has so far reached and exceeded milestones for organization, participation in national planning, and successful recruitment and logistics. For the OT award period, we will continue to utilize a highly participatory and empowered model of diverse participant engagement and enrollment. The data collected from the geographically and ethnically diverse IPMC population, representing the largest and most diverse urban metropolitan area in the Midwestern United States, will add significant value to the overall AoURP goal of enrolling, retaining, and interacting with 1 million US residents. We have assembled a multidisciplinary team of academic researchers, community partners, and health system leaders in the past year. This application builds upon the collective experience and demonstrated success of the 3 partnering institutions in assembly and retention of large epidemiological cohorts, questionnaire data collection, community-based participatory research, minority health research, EHR linkage for genetic research, and their established and ongoing cross- institution collaborations. For this 5-year project period, IPMC plans to enroll 20,000 full participants each year during Years 1 to 3, 18,000 full participants in Year 4, and 15,000 full participants in Year 5. As such, we will consent, conduct physical measurements, collect biospecimens, and transmit curated data to the AoURP Data and Research Center (DRC; Vanderbilt University) and processed biosamples to the AoURP Biobank (Mayo Clinic), on at least 93,000 people from diverse ethnic, social, and economic backgrounds. Further, we aim to broaden our enrollment from patients in IPMC HPOs (and their affiliates), to include direct volunteers (DV), once this capability becomes technically feasible. To reach enrollment milestones, we will engage HPO staff, patients, and the general community to generate support for and participation in the HPO cohort. We will also engage DV corporate partners, such as Walgreens which is headquartered in Deerfield, IL, to collaborate on implementation of HPO/DV Hybrid strategies. We will continue detailed tracking of success rates, including percentage participation and diversity of participation, and discern the most effective recruitment strategies for each participating HPO. We will also continuously adapt, refine and introduce new approaches to maintain recruitment targets. When available, we will employ mobile technologies as developed by the Technology Coordinating Center, and continuously engage participants to remain connected to the AoURP. In aggregate, the academic institutions, HPOs, and community partners represented in this application provide unparalleled expertise and opportunity to reach a geographically and demographically broad and diverse population that is representative of the US as a whole. The population of the greater Chicago and Illinois area brings a unique opportunity to study common and unique environmental, behavioral and genetic underpinnings of health and disease that can inform the precision medicine of tomorrow.