Genomic risk in clinic care to promote health equity in New York City patients

项目总结/摘要整合临床病史、家族史、 历史和生活方式因素是预防医学的核心原则，基因组风险越来越多地被 被认为是可以增强疾病预测的一种成分。除了单一的强风险因素外， 基因（单基因风险），多基因风险评分（PRS）联合收割机结合了许多小的影响，变异在整个 基因组来评估个体的疾病风险。虽然PRS准备加强风险预测， 疾病，目前临床实施的挑战包括缺乏对非欧洲血统的验证 群体，以及在服务不足的人群中获得领先的基因组技术，研究和测试的障碍 人口数量。eMERGE 4网络正在进行一项研究，前瞻性地招募25，000名成人和儿童 在美国的10个临床研究中心，并返回一份综合风险报告，称为基因组知情 风险评估（GIRA），其中包括10种常见疾病的PRS，包括家族史，单基因风险， 社会和临床决定因素。该网络将使用GIRA来确定高风险个人， 预防性保健措施和保健结果。西奈山卫生系统（MS）已被选中 作为eMERGE 4增强多样性临床研究中心，我们招募了目标2,500名参与者中的1,520名， 其中75%来自医疗服务不足的人群。在项目进行到一半时， 由于网络招募的延迟，我们被要求在我们的网络之外再招募175名成年参与者。 最初的目标是2500人。该补充的具体目标是扩大成年参与者的招募， 纽约市的不同社区。我们将通过1）继续有针对性的外展，2）保持 在西奈山的初级保健诊所的存在，3）从事医生冠军，诊所工作人员和实践 管理人员，4）根据需要增加招聘地点，5）将招聘延长至2024年7月底， 以及6）继续努力与参与者和提供者进行外联和接触。我们将提取健康数据 电子健康记录的结果以及所要求的其他数据。在完成这一目标后，我们将 提供完整的调查，家族史，Meta数据和EHR衍生的健康结果数据， 来自西奈山卫生系统的175名不同的成年人为eMERGE 4的研究目标做出贡献 网络，并将在eMERGE网络工作组内工作，以分析这些数据。

PROJECT SUMMARY / ABSTRACT Disease risk prediction that integrates aspects of clinical history, family history, and lifestyle factors is a core tenet of preventive medicine, with genomic risk increasingly being recognized as a component that may enhance the prediction of disease. In addition to strong risk factors in single genes (monogenic risk), polygenic risk scores (PRS) combine the many small effects of variants across the genome to estimate an individual's disease risk. While PRS are poised to enhance risk prediction for common disease, current challenges to clinical implementation include lack of validation in non-European ancestry groups, and barriers to access to leading-edge genomic technology, research, and testing among underserved populations. The eMERGE 4 Network is conducting a study to prospectively enroll 25,000 adults and children across 10 clinical sites in the United States and return an integrated risk report, called the Genome Informed Risk Assessment (GIRA), which incorporates PRS for 10 common conditions with family history, monogenic risk, social and clinical determinants. Using the GIRA to identify individuals at high risk, the Network will assess uptake of preventive health measures and health outcomes. The Mount Sinai Health System (MS) has been selected as an eMERGE 4 enhanced diversity clinical site, where we have recruited 1,520 of our target 2,500 participants, >75% of whom are from medically underserved populations. At the midpoint of the project, in response to some delays in Network recruitment, we have been asked to recruit an additional 175 adult participants beyond our original goal of 2,500. The Specific Aim for this supplement is to expand enrollment of adult participants from diverse communities in New York City. We will accomplish this by 1) continuing targeted outreach, 2) maintaining a presence in primary care clinics across Mount Sinai, 3) engaging physician champions, clinic staff, and practice managers, 4) bringing on additional recruitment sites as needed, 5) extending recruitment through end July 2024, and 6) continuing outreach and engagement efforts to participants and providers. We will extract data on health outcomes from electronic health records, and other data as requested. Upon completion of this aim we will deliver completed surveys, family histories, meta data, and EHR-derived health outcome data for an additional 175 diverse adults from the Mount Sinai Health System to contribute to the research goals of the eMERGE 4 Network, and will work within the eMERGE Network working groups to analyze these data.