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Hot Topics of the Day|PHGKB
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01/20/2024

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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Understanding Liability Risk from Using Health Care Artificial Intelligence Tools.
Michelle M Mello et al. N Engl J Med 2024 1 (3) 271-278

From the article: "Optimism about the explosive potential of artificial intelligence (AI) to transform medicine is tempered by worry about what it may mean for the clinicians being “augmented.” One question is especially problematic because it may chill adoption: when AI contributes to patient injury, who will be held responsible? Some attorneys counsel health care organizations with dire warnings about liability1 and dauntingly long lists of legal concerns.2 Unfortunately, liability concern can lead to overly conservative decisions,3 including reluctance to try new things. "

Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort
KR Dias et al, Genetics in Medicine, January 19, 2024

From the abstract: " Genome sequencing (GS)-specific diagnostic rates in prospective tightly ascertained exome sequencing (ES)-negative intellectual disability (ID) cohorts have not been reported extensively. ES, GS, epigenetic signatures, and long-read sequencing diagnoses were assessed in 74 trios with at least moderate ID. The ES diagnostic yield was 42/74 (57%). GS diagnoses were made in 9/32 (28%) ES-unresolved families."

Dose-Response Associations of Lipid Traits With Coronary Artery Disease and Mortality.
Guoyi Yang et al. JAMA Netw Open 2024 1 (1) e2352572

From the abstract: "Do apolipoprotein B (apoB), low-density lipoprotein cholesterol (LDL-C), and triglycerides (TG) increase risk of coronary artery disease (CAD), all-cause mortality, or cause-specific mortality, and if so, what are the shapes of these associations? In this genetic association study using mendelian randomization including 347?797 participants of European ancestry from UK Biobank, genetically predicted apoB and LDL-C were positively associated with CAD, all-cause mortality, and cardiovascular mortality, all in a dose-dependent way. Genetically predicted TG was positively associated with CAD, although the presence of pleiotropy was suggested. "

Genetic risk and likelihood of prostate cancer detection on first biopsy by ancestry.
Kyung Min Lee et al. J Natl Cancer Inst 2024 1

From the abstract: "This cross-sectional retrospective analysis examines the association between a polygenic hazard score (PHS290) and risk of prostate cancer diagnosis upon first biopsy in male Veterans using two-sided tests. Our analysis included 36,717 Veterans (10,297 of African ancestry). Unadjusted rates of positive first prostate biopsy increased with higher genetic risk (low risk: 34%, high risk: 58%; p?<?.001). Among men of African ancestry, higher genetic risk was associated with increased prostate cancer detection on first biopsy (OR 2.18, 95% CI 1.93-2.47), but the effect was stronger among men of European descent (OR 3.89, 95% CI 3.62-4.18). "


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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