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Hot Topics of the Day|PHGKB
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10/10/2023

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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A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments
MM Mudau et al, J Comm Genetics, October 10, 2023

From the abstract: " Next-generation sequencing (NGS) has transformed testing approaches for many Mendelian disorders, but this technology is still relatively new in our setting and requires cost-effective ways to implement. As a proof of concept, we describe a feasible diagnostic strategy for genetic disorders frequently seen in our genetics clinics (RASopathies, Cornelia de Lange syndrome, Treacher Collins syndrome, and CHARGE syndrome). The custom-designed targeted NGS gene panel enabled concurrent variant screening for these disorders. Samples were batched during sequencing and analyzed selectively based on the clinical phenotype. The strategy employed in the current study was cost-effective, with sequencing and analysis done at USD849.68 per sample and achieving an overall detection rate of 54.5%"

Diagnostic Criteria for Identifying Individuals at High Risk of Progression From Mild or Moderate to Severe Alcohol Use Disorder
AP Miller et al, JAMA Network Open, October 10, 2023

From the abstract: "Does emphasis on specific criteria for alcohol use disorder (AUD) improve the identification of individuals at risk for developing more severe AUD? In this cohort study, cross-sectional and longitudinal multimodal secondary analyses involving a combined 15?928 individuals indicated that endorsement of criteria empirically designated as representing greater severity of AUD was significantly associated with 2-fold increased likelihood of progression from mild-to-moderate AUD to severe AUD, even after accounting for total criterion count. Emphasis on more severe criteria as indicators of vulnerability for severe AUD in current diagnostic approaches may increase detection of individuals with greater likelihood for disorder progression. "

Does clinical research account for diversity in deploying digital health technologies?
NA Coss et al, NPJ Digital Medicine, October 10, 2023

From the abstract: "Digital health technologies (DHTs) should expand access to clinical research to represent the social determinants of health (SDoH) across the population. The frequency of reporting participant SDoH data in clinical publications is low and is not known for studies that utilize DHTs. We evaluated representation of 11 SDoH domains in 126 DHT-enabled clinical research publications and proposed a framework under which these domains could be captured and subsequently reported in future studies. "

Age-dependent topic modeling of comorbidities in UK Biobank identifies disease subtypes with differential genetic risk.
Xilin Jiang et al. Nat Genet 2023 10

From the abstract: " The analysis of longitudinal data from electronic health records (EHRs) has the potential to improve clinical diagnoses and enable personalized medicine, motivating efforts to identify disease subtypes from patient comorbidity information. Here we introduce an age-dependent topic modeling (ATM) method that provides a low-rank representation of longitudinal records of hundreds of distinct diseases in large EHR datasets. "


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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