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Hot Topics of the Day|PHGKB
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11/06/2023

Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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Neighborhood Deprivation and DNA Methylation and Expression of Cancer Genes in Breast Tumors.
Brittany D Jenkins et al. JAMA Netw Open 2023 11 (11) e2341651

From the abstract: "What is the association between neighborhood deprivation, DNA methylation, and gene expression in breast tissue for Black and White women with breast cancer? In a cross-sectional study of 185 women with breast cancer, higher neighborhood deprivation was associated with decreased methylation and gene expression of 2 tumor suppressor genes, LRIG1 and WWOX, for Black patients with breast cancer. These findings suggest that, for Black women, high neighborhood deprivation is associated with epigenetic differences in breast tumors that may lead to more aggressive disease, signaling the need for continued investment in public health interventions and policy changes at the neighborhood level. "

APOE Genotype and Alzheimer Disease Risk Across Age, Sex, and Population Ancestry.
Michael E Belloy et al. JAMA Neurol 2023 11

From the abstract: " How do associations of apolipoprotein E (APOE) genotypes with late-onset Alzheimer disease (AD) risk differ across age, sex, and population ancestry? In this genetic association study of 68 756 unique individuals, there was a stepwise pattern of decreasing effect estimates for APOE*4 following East Asian, non-Hispanic White, non-Hispanic Black, and Hispanic individuals. There was a similar stepwise pattern of increasing effect estimates for APOE*2 following non-Hispanic White, non-Hispanic Black, and Hispanic individuals, with no association for APOE*2 in East Asian individuals and Hispanic individuals."

Patient-Level Exposure to Actionable Pharmacogenomic Medications in a Nationally Representative Insurance Claims Database
ML BIanchini et al, JPM, November 3, 2023

From the abstract: " The prevalence of exposure to pharmacogenomic medications is well established but little is known about how long patients are exposed to these medications. Aim: Our objective was to describe the amount of exposure to actionable pharmacogenomic medications using patient-level measures among a large nationally representative population using an insurance claims database. Methods: Our retrospective cohort study included adults (18+ years) from the IQVIA PharMetrics® Plus for Academics claims database with incident fills of 72 Clinical Pharmacogenetics Implementation Consortium level A, A/B, or B medications from January 2012 through September 2018. "

Artificial intelligence exceeds humans in epidemiological job coding.
Mathijs A Langezaal et al. Commun Med (Lond) 2023 11 (1) 160

From the abstract: " We developed OPERAS, a customizable decision support system for epidemiological job coding. Using 812,522 entries, we developed and tested classification models for the Professions et Catégories Socioprofessionnelles (PCS)2003, Nomenclature d’Activités Française (NAF)2008, International Standard Classifications of Occupation (ISCO)-88, and ISCO-68. Each code comes with an estimated correctness measure to identify instances potentially requiring expert review. Here, OPERAS’ decision support enables an increase in efficiency and accuracy of the coding process"

Ancestry-specific polygenic risk scores are risk enhancers for clinical cardiovascular disease assessments.
George B Busby et al. Nat Commun 2023 11 (1) 7105

From the abstract: " We develop and validate ancestry-specific Polygenic Risk Scores (PRSs) for Coronary Artery Disease (CAD) using 29,389 individuals from diverse cohorts and genetic ancestry groups. The CAD PRSs outperform published scores with an average Odds Ratio per Standard Deviation of 1.57 (SD = 0.14) and identify between 12% and 24% of individuals with high genetic risk. Using this risk factor to reclassify borderline or intermediate 10 year Atherosclerotic Cardiovascular Disease (ASCVD) risk improves assessments for both CAD (Net Reclassification Improvement (NRI) = 13.14% (95% CI 9.23–17.06%)) and ASCVD (NRI = 10.70 (95% CI 7.35-14.05)) in an independent cohort of 9,691 individuals. "


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific 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 Clips, 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.
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