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Last Posted: May 16, 2024
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Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study

From the article: "Genetic information, if available, could improve T2D prediction among patients lacking measured clinical risk factors. Genome-wide association studies (GWAS) have identified hundreds of unique loci associated with T2D, the results of which can be used to calculate polygenic scores (PGS) that model genetic risk independently of established clinical risk factors including family history. Previous work has evaluated how PGS can be used within healthcare systems, but analyses have been largely cross-sectional in biobanks of mostly European ancestry, limiting the generalizability of results to a more ancestrally and medically diverse US healthcare system. "

Including diverse populations enhances the discovery of type 2 diabetes loci
S Fatumo, Nat Rev Genetics, November 22, 2023

From the paper: "A recent multi-ancestry GWAS meta-analysis greatly advances our understanding of the genetic basis of T2D by encompassing a broad range of populations. The insights gained from this research provide a foundation for future functional investigations, therapeutic development and the translation of GWAS findings to improve global health outcomes for all, regardless of genetic background. "

Genetic risk prediction in Hispanics/Latinos: milestones, challenges, and social-ethical considerations.
Betzaida L Maldonado et al. J Community Genet 2023 11

From the abstract: "Recent efforts have focused on increasing racial and ethnic diversity in GWAS, thus, addressing some of the limitations of genetic risk prediction in these populations. Even with these efforts, few studies focus exclusively on Hispanics/Latinos. Additionally, Hispanic/Latino populations are often considered a single population despite varying admixture proportions between and within ethnic groups, diverse genetic heterogeneity, and demographic history. Combined with highly heterogeneous environmental and socioeconomic exposures, this diversity can reduce the transferability of genetic risk prediction models. "

Pragmatic Approach to Applying Polygenic Risk Scores to Diverse Populations.
Aniruddh P Patel et al. Curr Protoc 2023 11 (11) e911

From the abstract: " We present a pragmatic approach to optimize a PRS for a population of interest that leverages publicly available data and methods and consists of seven steps that are easily implemented without the requirement of expertise in complex genetics: step 1, selecting source genome-wide association studies (GWAS) and imputation; step 2, selecting methods to compute polygenic score; step 3, adjusting scores using principal components of genetic ancestry; step 4, selecting the best performing score; step 5, defining percentiles of a population distribution; step 6, validating performance of the optimized polygenic score; and step 7, implementing the optimized polygenic score in clinical practice."

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.