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.

项目概要/摘要 本申请是为了响应被识别为 NOT-CA- 的特殊利益通知 (NOSI) 而提交的 22-056。该资助机会的目标是增加样本和数据的代表性 公共存储库中的种族/族裔人口。包括当前的更多样本 这些资源库中代表性不足的种族/族裔人口是必要的，但还不足以 实现这一目标。迄今为止，大多数人类基因组研究都集中在同质的欧洲 人口，由遗传血统定义，并排除多种族个体。排除多种族 该研究中的个人增加了其产品（包括参考面板和 多基因风险评分（PRS）——对于其他非生物领域的发现和转化来说，系统性的有效性较低。 欧洲和混合人群。这在美国尤其令人担忧，因为美国“大多数”的数量 “少数民族”国家正在增加，多种族人口增加了近 300%（从 900 万增加到 自 2010 年人口普查以来（近 3400 万）。来自多元化和多种族个体的更广泛、更深入的数据 人口对于理清种族、族裔、血统、生物学和文化之间复杂的相互作用至关重要。 关于健康风险、结果和差异的文化构建。我们的加州教师研究 (CTS)，一种癌症 流行病学队列（CEC）非常适合帮助推进本通知的目标。我们建议 利用 N=1310 现有的 CTS 生物样本来增加种族/族裔样本的代表性 种系全基因组基因分型数据存储库以及伴随的暴露、表型和结果 数据;并与研究界广泛分享这些数据。 2013 年至 2016 年间，两次 CTS 生物样本库项目从参与者那里收集了尚未进行基因分型的新血液样本 是西班牙裔美国人 (N=701)、非裔美国人 (N=172)、美洲原住民 (N=126)、亚裔美国人/太平洋裔 岛民 (N=66)，或“其他/混合”(N=245)。这些参与者报告了他们自己的种族/民族以及双方的种族/民族 他们的父母。这创造了一定程度的精确度，将进一步扩展这些研究的未来研究范围 CTS数据可以支持。这些参与者提供了广泛的接触、表型和 通过有效的 CTS 数据链接获取多年的结果数据，生成详细的个体级别癌症， 捐赠生物样本的参与者的住院和死亡结果数据。由此产生的基因组 数据不仅可以支持癌症研究，还可以支持其他重要慢性疾病（例如心脏病）的研究 疾病、糖尿病和痴呆症）和医疗保健终点。 CTS在数据方面处于CEC中的领先地位 分享；自 2015 年以来，我们开发了新的方法、工具和基础设施来共享所有 CTS 信息和 研究界的资源，这些资产将有助于确保该项目的长期成功 项目。综合基因组学研究将受益于少数族裔和多种族的更多数据的可用性 这个基于 CTS 的项目将有助于为研究界扩大这些资源。