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Hot Topics of the Day|PHGKB
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09/12/2023

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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Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature: A Systematic Review and Meta-Analysis.
Qing Li et al. JAMA Pediatr 2023 9

From the abstract: " What is the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) in cases of short stature? In this study, review of pertinent literature resulted in 10 cohorts comprising 1350 individuals for ES and 14 cohorts including 1070 individuals for CMA in meta-analysis. The diagnostic yield for ES and CMA was determined to be 27.1% and 13.6%, respectively. In this meta-analysis, the findings indicate that ES and CMA may prove useful tools in identifying molecular etiologies underlying short stature in affected individuals."

The INGENIOUS trial: Impact of pharmacogenetic testing on adverse events in a pragmatic clinical trial.
Michael T Eadon et al. Pharmacogenomics J 2023 9

From the abstract: "Adverse drug events (ADEs) account for a significant mortality, morbidity, and cost burden. Pharmacogenetic testing has the potential to reduce ADEs and inefficacy. The objective of this INGENIOUS trial (NCT02297126) analysis was to determine whether conducting and reporting pharmacogenetic panel testing impacts ADE frequency. The trial was a pragmatic, randomized controlled clinical trial, adapted as a propensity matched analysis in individuals (N?=?2612) receiving a new prescription for one or more of 26 pharmacogenetic-actionable drugs across a community safety-net and academic health system."

Viral genetic clustering and transmission dynamics of the 2022 mpox outbreak in Portugal.
Vítor Borges et al. Nat Med 2023 9

From the abstract: "Pathogen genome sequencing during epidemics enhances our ability to identify and understand suspected clusters and investigate their relationships. Here, we combine genomic and epidemiological data of the 2022 mpox outbreak to better understand early viral spread, diversification and transmission dynamics. By sequencing 52% of the confirmed cases in Portugal, we identified the mpox virus sublineages with the highest impact on case numbers and fitted them into a global context, finding evidence that several international sublineages probably emerged or spread early."

Molecular mechanisms of SARS-CoV-2 resistance to nirmatrelvir.
Yinkai Duan et al. Nature 2023 9

From the abstract: "Nirmatrelvir is a specific antiviral targeting the main protease (Mpro) of SARS-CoV-2, and has been approved to treat COVID-191,2. As an RNA virus characterized by high mutation rates, whether SARS-CoV-2 will develop resistance to nirmatrelvir is a concern. Here we combined biochemical and structural methods to demonstrate that mutations at the substrate binding pocket of the Mpro can allow SARS-CoV-2 to develop resistance to nirmatrelvir in two distinct ways."

‘Very little yield’: has genetically targeted medicine really made us healthier?
NC Miles, The Guardian, September 9, 2023

From the article: "After spending 13 years and $2.7bn, the Human Genome Project announced in 2003 that it had successfully mapped our DNA, paving the way for a new era of medicine that would deliver “the right treatment, for the right patient, at the right time”. Twenty years later, some say the “era of precision medicine” has arrived. But others disagree. They argue that the gains have been small and pursuing them may have diverted attention from the preventable causes of common diseases."


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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