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Hot Topics of the Day|PHGKB
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11/14/2023

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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Prioritizing the Exposome to Reduce Cardiovascular Disease Burden.
Erica S Spatz et al. JAMA Cardiol 2023 11

From the paper: "There is an imperative to address the exposome in efforts to advance health equity, requiring a combination of research and action. In focusing on environmental exposures that are not only measurable but modifiable (eg, reducing street temperatures by increasing green spaces and planting trees that give shade), there is an opportunity to derive the direct benefits (eg, fewer cardiac arrests and strokes, higher well-being) while addressing societal disparities and racism (eg, prioritizing minoritized communities that have been failed by discriminatory investments in landscape and housing) "

First trial of 'base editing' in humans lowers cholesterol - but raises safety concerns.
Miryam Naddaf et al. Nature 2023 11

From the paper: "The first trial in humans of the precise gene-editing technique known as base editing has shown promising results for keeping cholesterol levels in check in patients with familial hypercholesterolemia. The approach injects into people a treatment called VERVE-101, which permanently deactivates a gene in the liver called PCSK9. That gene controls the level of low-density lipoprotein (LDL), or ‘bad’ cholesterol — a key contributor to heart disease. But the findings have also drawn criticism. Two serious adverse events in the trial, including a death, have raised safety concerns. "

Robust airway microbiome signatures in acute respiratory failure and hospital-acquired pneumonia.
Emmanuel Montassier et al. Nat Med 2023 11

From the abstract: "Respiratory microbial dysbiosis is associated with acute respiratory distress syndrome (ARDS) and hospital-acquired pneumonia (HAP) in critically ill patients. However, we lack reproducible respiratory microbiome signatures that can increase our understanding of these conditions and potential treatments. Here, we analyze 16S rRNA sequencing data from 2,177 respiratory samples collected from 1,029 critically ill patients (21.7% with ARDS and 26.3% with HAP) and 327 healthy controls. Using machine learning models, we identified clinically informative, three- and four-factor signatures that predicted ARDS, HAP and prolonged mechanical ventilation with relatively high accuracy (area under the curve of 0.751, 0.72 and 0.727, respectively). "

Influence of family history on penetrance of hereditary cancers in a population setting.
Leigh Jackson et al. EClinicalMedicine 2023 11 102159

From the abstract: "Women with a pathogenic BRCA1 or BRCA2 variant had an increased risk of breast cancer that was higher in those with a first-degree family history (relative hazard 10.3 and 7.8, respectively) than those without (7.2 and 4.7). Penetrance to age 60 was also higher in those with a family history (44.7%, CI 32.2-59.3 and 24.1%, CI 17.5-32.6) versus those without (22.8%, CI 15.9-32.0 and 17.9%, CI 13.8-23.0). A similar pattern was seen in Lynch syndrome: individuals with a pathogenic MLH1, MSH2 or MSH6 variant had an increased risk of colorectal cancer that was significantly higher in those with a family history (relative hazard 35.6, 48.0 and 9.9) "


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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