Northwestern Genomic Risk Assessment and Management Program

项目总结 自2020年初以来，新冠肺炎病在美国迅速传播，并可能持续或复发 定期进行，直到研制出有效的疫苗或预防性治疗。这次大流行将会有一个很大的 对下一阶段的行动产生影响，包括招募新的参与者以及 基于多基因风险分数的基因组风险评估的开发、验证和实施 (RPS)。该副刊为西北大学提供了一个机会，可以为Emerge网络的努力做出贡献 促进对新冠肺炎遗传流行病学和个体易感性的了解， 疾病的严重性和并发症。支持在补充申请中提出的努力 协调中心，我们建议将Emerge 4应用程序的目标1扩展为以下目标：创建、 验证和实施新冠肺炎电子表型，以显示疾病、疾病严重程度和特定 新冠肺炎在西北生物库的并发症。认识到关于电子表型的决定 将与协调中心和其他机构合作进行开发和实施 参与Emerge 4站点，在本补充中，我们提出了引领表型发展的三个关键 新冠肺炎表型1)心肌炎，2)急性肾损伤，3)凝血障碍并发症。另外， 我们建议促进对新冠肺炎病全谱的研究，包括那些轻微或没有的疾病 症状，这将激励可能处于较高风险的个人参与Emerge 4 到接触新冠肺炎。为了实现这一点，我们将使用 以下2个目标：a)向所有西北大学参与者提供SARS-CoV-2免疫球蛋白血清学检测 在获奖的第一年被招募到Emerge 4，并b)促进SARS-CoV-2血清学测试和 通过邮寄方式对Emerge 4参与者同居家庭成员进行基因分型。

PROJECT SUMMARY Since early 2020, COVID-19 disease spread rapidly across the US and will likely be sustained or recur periodically until an effective vaccine or prophylactic treatment is developed. The pandemic will have a large impact on the conduct of the next phase of eMERGE, including recruitment of new participants as well as development, validation, and implementation of genomic risk assessments based on polygenic risk scores (PRS). The supplement presents an opportunity for Northwestern to contribute eMERGE network efforts to promote the understanding of the genetic epidemiology and individual susceptibility to COVID-19 infection, disease severity, and complications. In support of efforts proposed in the supplement application for the coordinating center, we propose to expand Aim 1 of our eMERGE 4 application with the following aim: Create, validate and implement COVID-19 ePhenotyping for manifest disease, disease severity, and specific COVID-19 complications in the Northwestern biobank. Recognizing that decisions about ePhenotype development and implementation will be made in collaboration with the coordinating center and other participating eMERGE 4 sites, in this supplement, we propose leading phenotype development of three critical COVID-19 phenotypes 1) myocarditis, 2) acute kidney injury, and 3) coagulopathy complications. Additionally, we propose to facilitate studies of the full spectrum of COVID-19 disease including those with minimal or no symptoms, which will motivate participation in eMERGE 4 among individuals who may have been at higher risk to exposure to COVID-19. To achieve this, we will expand aim 2 of our parent eMERGE 4 application with the following 2 aims: a) provide SARS-CoV-2 serological testing for IgG to all Northwestern participants recruited into eMERGE 4 in year 1 of the award and b) facilitate SARS-CoV-2 serology testing and genotyping of cohabitating family members of eMERGE 4 participants by mail.