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

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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.