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Hot Topics of the Day|PHGKB
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10/24/2023

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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Multitarget Stool RNA Test for Colorectal Cancer Screening.
Erica K Barnell et al. JAMA 2023 10

From the abstract: " What is the performance of the novel multitarget stool RNA (mt-sRNA) test (ColoSense) for individuals 45 years and older undergoing colorectal cancer screening? A pivotal prospective, cross-sectional clinical trial comprising 8920 eligible participants was used to evaluate the sensitivity and specificity of the mt-sRNA test compared with a colonoscopy. The sensitivity of the mt-sRNA test for detecting colorectal cancer was 94%, the sensitivity for detecting advanced adenomas was 46%, and the specificity for no lesions on colonoscopy was 88%."

Changes in SARS-CoV-2 Sequence Linked With Antiviral Use.
Emily Harris et al. JAMA 2023 10 (16) 1515

From the article: " The antiviral drug molnupiravir was linked with a pattern of genomic changes in SARS-CoV-2, based on an analysis of more than 15 million global sequences. Molnupiravir is converted in the body to a nucleotide that is incorporated into the virus’ genome, introducing errors into the sequence. These errors tend to reduce the number of surviving viral progeny, giving the immune system a better chance of clearing the virus. However, if a person is unable to fully clear the virus, some of the viral progeny with genomic changes can be passed along to other hosts. "

Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Justin K Kirkham et al. JAMA Netw Open 2023 10 (10) e2337484

From the abstract: " What genetic modifiers of sickle cell disease (SCD) are currently defined, and what are potential approaches to improve future studies? In this systematic review and meta-analysis of 571 studies examining 29?670 individuals with SCD, 17?757 associations involving 1552 genes and 25 SCD phenotype categories were discovered; of these, only 173 associations met the study design, reporting, and phenotype or genotype harmonization required for meta-analysis. Gene variants regulating fetal hemoglobin and a-thalassemia were frequently identified, but other associations remained unconfirmed."


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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