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Hot Topics of the Day|PHGKB
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03/21/2024

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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Emerging Opportunities for Genomics to Improve Population Health: Lessons learned from the National Academies Roundtable on Genomics and Precision Health
CDC Webinar, May 22, 2024 Brand

From the website: " For nearly two decades, the National Academies of Sciences, Engineering, and Medicine’s Roundtable on Genomics and Precision Health has brought together diverse voices to share in dialogue about emerging topics in genomics and precision health. Through its public workshops and proceedings of those workshops, the roundtable seeks to encourage innovation and actions that foster the wide adoption of and equitable access to the benefits of genomics and precision health. The webinar will shed light on the emerging opportunities and challenges for genomics to improve population health. The webinar participants will also discuss the role of public health at state and federal levels in fulfilling the promise of genomics and precision health for all. Specific topics relevant to public health practice will be explored."

Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Vivienne Souter et al. Circ Genom Precis Med 2024 3 e004457

From the abstract: "Familial hypercholesterolemia is a treatable genetic condition but remains underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP) variants in the LDLR gene in female individuals receiving reproductive carrier screening. This retrospective observational study included samples from female patients (aged 18–55 years) receiving a 274-gene carrier screening panel. P/LP LDLR variants were identified in 283 samples (1 in 324). No patients were identified with >1 P/LP variant. LDLR carrier frequency was higher in Asian (1 in 191 [95% CI, 1 in 142–258]) compared with White (1 in 417 [95% CI, 1 in 326–533]; P<0.001) or Black groups (1 in 508 [95% CI, 1 in 284–910]; P=0.004). "

The promise of AI in personalized breast cancer screening: are we there yet?
Despina Kontos et al. Nat Rev Clin Oncol 2024 3

From the abstract: " The benefits and potential harms of mammography-based screening for breast cancer are often a matter of debate. Here, I discuss the promises and limitations of a recent study that tested an artificial intelligence-based tool for the detection of breast cancer in digital mammograms in a large, prospective screening setting."

Identification of dynamic microbiota signatures in patients with melanoma receiving ICIs: opportunities and challenges.
Saman Maleki Vareki et al. Nat Rev Clin Oncol 2024 3

From the abstract: "The composition of the gut microbiota has emerged as a tumour-extrinsic factor that modulates response to immune-checkpoint inhibitors (ICIs), although the lack of consistency in microbiota signatures across studies has limited their value as reliable biomarkers. Herein, we discuss a recent study in which longitudinal microbiome profiling identified several taxa that are persistently enriched in patients with melanoma and a favourable response to ICIs. "


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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