Genome-wide genotyping of existing samples in the California Teachers Study cohort from under-represented racial & ethnic minority groups to facilitate broad and open future research

对加州教师研究队列中代表性不足的种族的现有样本进行全基因组基因分型

• 批准号: 10629670
• 负责人: James V Lacey
• 金额: $ 20万
• 依托单位: BECKMAN RESEARCH INSTITUTE/CITY OF HOPE
• 依托单位国家: 美国
• 财政年份: 2015
• 资助国家: 美国
• 起止时间: 2015-09-01 至 2025-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10629670
• 关键词: Accident and Emergency department; Address; African American; African American population; Ambulatory Surgical Procedures; Asian Pacific American; Biology; Blood specimen; California; Cancer Burden; Cancer Research Project; Censuses; Chronic Disease; Cohort Studies; Communities; Companions; Complex; Computer software; Custom; Data; Data Linkages; Data Pooling; Dementia; Deposition; Diabetes Mellitus; Disease Outcome; Documentation; Ensure; Environment; Ethnic Origin; European; Exclusion; Extramural Activities; Funding Opportunities; Future; Genetic; Genomics; Genotype; Goals; Health; Healthcare; Heart Diseases; Hereditary Disease; Hispanic Americans; Hospitalization; Human; Individual; Infrastructure; Inpatients; Life Style; Malignant Neoplasms; Metadata; Methodology; Minority; Native Americans; Outcome; Pacific Island Americans; Parents; Participant; Patient Self-Report; Persons; Phenotype; Population; Population Heterogeneity; Population Study; Positioning Attribute; Process; Race; Recording of previous events; Records; Reference Standards; Reporting; Research; Research Personnel; Resources; Risk; Risk Factors; Sampling; Science; Security; Services; Translations; United States National Institutes of Health; Validation; anticancer research; base; biobank; cancer epidemiology; clinical phenotype; cohort; data infrastructure; data repository; data sharing; data tools; data warehouse; database of Genotypes and Phenotypes; disparity reduction; diverse data; ethnic minority; ethnic minority population; flexibility; genome sequencing; genome-wide; genomic data; improved; innovation; interest; mortality; multi-racial; personalized approach; phenotypic data; polygenic risk score; precision medicine; programs; prospective; public repository; racial and ethnic; racial minority; racial population; repository; response; success; teacher; tool; whole genome

PROJECT SUMMARY/ABSTRACT This application is being submitted in response to the Notice of Special Interest (NOSI) identified as NOT-CA- 22-056. The goal of this funding opportunity is to increase the representation of samples and data from racial/ethnic minority populations in publicly available repositories. Including more samples from currently underrepresented racial/ethnic minority populations in these repositories is necessary but not sufficient for achieving that goal. Most human genomic research to date has focused on homogeneous European populations, as defined by genetic ancestry, and excluded multiracial individuals. Exclusion of multiracial individuals from that research increases the chances that its products—including reference panels and polygenic risk scores (PRSes)—are systematically less valid for discovery and translation in other non- European and mixed populations. This is especially worrisome in the U.S., where the number of “majority- minority” states is increasing and the multiracial populations has increased by almost 300% (from 9 million to almost 34 million) since the 2010 Census. Broader and deeper data from diverse and multiracial individuals and populations is essential for disentangling the complex interactions of race, ethnicity, ancestry, biology, and cultural constructs on health risks, outcomes, and disparities. Our California Teachers Study (CTS), a cancer epidemiology cohort (CEC), is ideally positioned to help advance the goals of this Notice. We propose to leverage N=1310 existing CTS biospecimens to increase representation of racial/ethnic minority samples in germline genome-wide genotyping data repositories with accompanying exposure, phenotype, and outcome data; and to broadly share these data with the research community. Between 2013 and 2016, two CTS biobanking projects collected new blood samples, which have not yet been genotyped, from participants who are Hispanic American (N=701), African American (N=172), Native American (N=126), Asian-American/Pacific Islander (N=66), or “other/mixed” (N=245). These participants reported their own race/ethnicity and that of both of their parents. This creates a level of precision that will further extend the future range of research that these CTS data can support. These participants have provided extensive and broad exposure, phenotype, and outcome data for years via efficient CTS data linkages that generate detailed individual-level cancer, hospitalization, and mortality outcomes data for participants who donated biospecimens. The resulting genomic data can support not just cancer research, but also research on other important chronic diseases (e.g., heart disease, diabetes, and dementia) and health-care endpoints. The CTS is a leader among CECs in data sharing; since 2015, we have developed new ways, tools, and infrastructure to share all CTS information and resources with the research community, and these assets will help ensure the long-term success of this project. Integrative genomics research will benefit from the availability of more data from minority & multiracial populations, and this CTS-based project will help expand those resources for the research community.

项目摘要/摘要 该申请是为了响应特殊利益通知（NOSI）而提交 22-056。这个资金机会的目的是增加样本和数据的表示 公开可用的存储库中的种族/族裔人口。包括当前的更多样本 这些存储库中代表性不足的种族/族裔人口是必要的，但不足 实现这一目标。迄今为止，大多数人类基因组研究都集中在统一的欧洲 人群，由遗传血统定义，排除了多种族个体。排除多种族 该研究的个人增加了其产品的机会，包括参考面板和 多基因风险评分（PRSE） - 在其他非 - 欧洲和混合人口。这在美国尤其令人担忧，在美国，“多数人的数量 - 少数派”正在增加，多种族人口增加了近300％（从900万到 自2010年人口普查以来，将近3400万。来自潜水员和多种族个体的更广泛的数据 人口对于解开种族，种族，血统，生物学和生物学的复杂相互作用至关重要 关于健康风险，结果和差异的文化结构。我们的加利福尼亚教师研究（CTS），一种癌症 流行病学队列（CEC）的理想位置可以帮助促进该通知的目标。我们建议 杠杆n = 1310现有的CTS生物测量以增加种族/族裔少数民族样本的代表 与参与暴露，表型和结果的种系全基因组基因分型数据存储库 数据;并与研究界广泛共享这些数据。在2013年至2016年之间，两个CTS 生物库项目收集了尚未尚未基于基因分型的新血液样本的参与者 是西班牙裔美国人（n = 701），非裔美国人（n = 172），美国原住民（n = 126），亚裔美国人/太平洋 岛民（n = 66）或“其他/混合”（n = 245）。这些参与者报告了自己的种族/种族和两者的种族/种族 他们的父母。这创造了一定的精度，将进一步扩展未来的研究范围 CTS数据可以支持。这些参与者提供了广泛而广泛的曝光，表型和 成果数据多年通过有效的CTS数据链接产生详细的个体癌症， 住院和死亡率结果为捐赠生物测量的参与者提供数据。由此产生的基因组 数据不仅可以支持癌症研究，还可以研究其他重要的慢性疾病（例如，心脏 疾病，糖尿病和痴呆症）和医疗保健终点。 CTS是数据中CEC的领导者 共享；自2015年以来，我们已经开发了新的方法，工具和基础架构，以共享所有CTS信息和 研究社区的资源以及这些资产将有助于确保这一成功的长期成功 项目。综合基因组学研究将受益于少数和多种族的更多数据 人群和这个基于CTS的项目将有助于扩大研究界的这些资源。