eMERGE IV Northwest: A partnership to evaluate the use of genomic information in the health care of diverse participants

项目摘要 Emerge IV(E4)建议调查在#年实施15个“基因组风险评估”(GRA)评分的情况 网络范围内的一组不同的参与者。这些GRAs将包括多基因风险评分(PR)信息，如 以及风险信息，如个人和家庭健康史、环境和社会健康 决定因素，以及物理和实验室测量。GRA将这些因素汇总到一个分数中，以 确定哪些人将从筛查和其他干预措施中受益。 在基因组医学成为标准医疗保健的一部分之前，必须解决实质性的挑战。我们会 协作完善多血统GRAs，支持纳入从 具有创新的自然语言处理方法的电子健康记录，并将其应用于 亚裔血统、性少数和性别少数群体丰富。我们建议的具体目标是 旨在使用实施科学方法来推进基因组数据与临床的集成 实践，包括对患者视角和经济结果的评估，并扩大 通过协作脱颖而出。华盛顿大学医学院致力于预防健康 学习卫生系统和广泛的基因组学、统计学、伦理学、信息学、实施、 结果和经济纪律将支持这项多地点临床试验。 具体目标： 目标1：考虑利益相关者，改进五种高影响条件下的GRA评分和结果衡量标准 输入，以便在电子健康记录中实施。条件是：结直肠癌，乳腺癌， 骨质疏松症、冠状动脉疾病和青光眼。 目标2：将15个GRA评分和用于管理的电子临床决策支持集成到临床护理和 电子病历和捕获临床结果。 目的3：评价GRA结果回报的实施性、有效性和经济效益。

Project Abstract eMERGE IV (E4) proposes to investigate the implementation of 15 “genomic risk assessment” (GRA) scores in a network-wide set of diverse participants. These GRAs will include polygenic risk score (PRS) information, as well as risk information, such as personal and family health history, environmental and social health determinants, and physical and lab measures. The GRA will aggregate these factors into a single score to identify those who would benefit from screening and other interventions. Substantial challenges must be addressed before genomic medicine is a part of standard medical care. We will collaborate to refine multi-ancestry GRAs and support the inclusion of non-genetic risk factors extracted from the electronic health record with innovative natural language processing approaches and apply them in a cohort enriched for Asian ancestry, and sexual and gender minorities. The specific aims of our proposal are designed to use an implementation science approach to advance the integration of genomic data into clinical practice, including evaluation of patient perspectives and economic outcomes, and broadening the impact of eMERGE through collaborations. The University of Washington Medicine dedication to preventative health in a learning health system and broad expertise across genomics, statistical, ethical, informatic, implementation, outcomes and economic disciplines will support this multi-site clinical trial. Specific Aims: Aim 1: Refine GRA scores and outcomes measures for five high impact conditions, considering stakeholder input, for implementation in the electronic health record. The conditions are: colorectal cancer, breast cancer, osteoporosis, coronary artery disease, and glaucoma. Aim 2: Integrate 15 GRA scores and electronic clinical decision support for management into clinical care and the EHR and capture clinical outcomes. Aim 3: Evaluate the implementation, effectiveness, and economic utility of GRA result return.