Northwestern Genomic Risk Assessment and Management Program

西北基因组风险评估和管理计划

• 批准号: 10207722
• 负责人: REX L CHISHOLM
• 金额: $ 133.46万
• 依托单位: NORTHWESTERN UNIVERSITY AT CHICAGO
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-07-01 至 2025-04-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10207722
• 关键词: Address; Adherence; Area; Behavior; Behavioral; Cardiovascular Diseases; Clinical; Clinics and Hospitals; Collection; Communication; Communication Tools; Community Networks; Computerized Medical Record; DNA; Data; Deposition; Diagnosis; Disease; Electronic Health Record; Electronic Medical Records and Genomics Network; Enrollment; Ensure; Ethnic group; Family; Family history of; Genes; Genetic; Genetic Risk; Genomic medicine; Genomics; Genotype; Goals; Health system; Healthcare; Individual; Informatics; Information Technology; Infrastructure; Intervention; Knowledge; Leadership; Link; Malignant Neoplasms; Medical; Medical center; Medicine; Monitor; Morbidity - disease rate; Outcome; Participant; Patient Education; Patients; Performance; Pharmacogenomics; Phase; Phenotype; Pilot Projects; Population; Population Genetics; Population Heterogeneity; Positioning Attribute; Provider; Publishing; Race; Recording of previous events; Research Personnel; Risk; Risk Assessment; Risk Management; Role; Site; Specific qualifier value; Symptoms; Techniques; Testing; Trust; age group; alternative communication; biobank; care outcomes; clinical care; clinical decision support; clinical decision-making; clinical implementation; data warehouse; disorder risk; ethical legal social implication; ethnic diversity; ethnic minority population; expectation; experience; genomic epidemiology; health disparity; health management; high risk; improved; innovation; mortality; novel; participant retention; polygenic risk score; prevent; programs; racial diversity; racial minority; rare variant; recruit; smartphone Application; socioeconomics; success; theories; uptake

Summary Polygenic risk scores have the potential to change management for common diseases. However, concerns exist about the clinical implementation of PRS including the likely decreased performance of PRS in non-white populations and the need to develop improved communication and extended informatics support for use of the PRS in health care decisions. At Northwestern we will address these concerns through three major scientific questions related to the clinical use of PRS: 1) Does use of PRS contribute to improved adherence to risk management strategies and improved clinical outcomes? 2) Does a high risk PRS presented with culturally sensitive and tailored risk communication improve adherence and outcomes across diverse racial and ethnic groups? 3) Can we develop and test information technology that stores PRS in the EHR and delivers clinical decision support (CDS) to aid providers in PRS use clinically? To enable recruitment, retention, and outcome monitoring, we will create and then disseminate a smartphone application across Northwestern and, as possible, the Electronic Medical Records and Genomics (eMERGE) network to facilitate the goals of eMERGE 4 (e4). Northwestern has been a primary contributor to all phases of eMERGE with Northwestern investigators holding key leadership roles in the network. Northwestern’s previous rich experience in electronic phenotyping involves using information extracted from our enterprise data warehouse, along with genomics and epidemiology expertise in many areas, including PRS, for genomic discovery projects. We have a demonstrated ability to recruit and retain large and ethnically diverse clinical populations for genetic result return, and repeated successful integration of genetic results into Northwestern’s electronic health record as discrete, computable lab values enabling effective clinical decision support. We will employ innovative enrollment techniques that have higher success rates in diverse populations. As participants in the e4 consortium we will implement a program called ENDORSED (eMERGE Northwestern Develops Optimized Risk Scores for Everyone’s DNA). Through the following aims ENDORSED will assess the utility of PRS, including in diverse populations. In Aim 1, we will calculate and validate PRS for common disorders selected specifically because they have medically-actionable outcomes. Aim 2 will recruit 2500 subjects for participation in eMERGE 4, taking advantage of Northwestern Medicine’s extensive clinical network. Aim 3 will use behavior theory to create culturally sensitive communication tools and then integrate PRS data into the electronic health record. Aim 4 will then examine outcomes and uptake of behaviors before and after PRS return. The completion of these aims will assess and evaluate PRS use for common diseases in diverse groups producing important data about real-world implementation of genomic medicine.

概括 多基因风险评分有可能改变常见疾病的管理，但仍令人担忧。 存在关于 PRS 临床实施的问题，包括 PRS 在非白人中的性能可能下降 人口和需要发展改进的通信和扩大信息学支持以使用 在西北大学，我们将通过三大科学手段解决这些问题。 与 PRS 临床使用相关的问题：1) PRS 的使用是否有助于提高风险依从性 管理策略和改善的临床结果？ 2) 高风险 PRS 是否与文化有关？ 敏感且量身定制的风险沟通可提高不同种族和民族的依从性和结果 3) 我们可以开发和测试将 PRS 存储在 EHR 中并提供临床服务的信息技术吗？ 决策支持（CDS）以帮助提供者在临床上使用PRS？以实现招募、保留和结果？ 监控，我们将创建并在整个西北地区传播智能手机应用程序，并且 电子病历和基因组学 (eMERGE) 网络可能有助于实现 eMERGE 的目标 4 (e4) 西北大学一直是 eMERGE 与西北大学研究人员的所有阶段的主要贡献者。 西北大学以前在电子表型分析方面拥有丰富的经验，在该网络中担任关键领导角色。 涉及使用从我们的企业数据仓库中提取的信息以及基因组学和 我们拥有许多领域的流行病学专业知识，包括 PRS，用于基因组发现项目。 招募和保留大量不同种族的临床人群以获得遗传结果的能力 返回，并多次成功地将基因结果整合到西北大学的电子健康记录中 我们将采用创新的、可计算的实验室值来实现有效的临床决策支持。 作为 e4 的参与者，注册技术在不同人群中具有更高的成功率。 我们将与联盟合作实施一项名为 ENDORSED（eMERGE Northwestern Develops Optimized）的计划 每个人 DNA 的风险评分)。ENDORSED 将通过以下目标评估 PRS 的实用性： 包括不同人群 在目标 1 中，我们将计算并验证所选常见疾病的 PRS。 特别是因为他们具有医学上可行的结果，目标 2 将招募 2500 名受试者。 参与 eMERGE 4，利用 Northwestern Medicine 广泛的临床网络。 使用行为理论创建文化敏感的沟通工具，然后将 PRS 数据集成到 目标 4 将检查 PRS 前后的结果和行为。 这些目标的完成将评估 PRS 在多种常见疾病中的使用情况。 产生有关基因组医学在现实世界中实施的重要数据的团体。