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Hot Topics of the Day|PHGKB
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01/28/2023

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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Archived Hot Topics of the Day By Date

Identification of a molnupiravir-associated mutational signature in SARS-CoV-2 sequencing databases
T Sanderson et al, MEDRXIB, January 27, 2023

Early risk-assessment of pathogen genomic variants emergence
Z Susswein et al, MEDRXIV, January 27, 2023

Despite decades of use for influenza vaccine strain selection and PCR-based molecular diagnostics, data on pathogen variant prevalence and growth advantage has only risen to its current prominence during the SARS-CoV-2 pandemic. However, such data are still often sparse: novel variants are initially rare or a region has limited sequencing. To ensure real-time estimates of risk are available in these types of data-sparse conditions, we develop a hierarchical modeling approach that estimates variant fitness advantage and prevalence by pooling data across geographic regions. We apply this method to estimate SARS-CoV-2 variant dynamics at the country-level and assess its stability with retrospective validation.

We Screen Newborns Don’t We? Progress in DNA-based Population Screening
CDC Public Health Genomics Webinar, May 18, 2023, Brand

As part of 2023 Public Health Genetics and Genomics week, we review in this webinar the concept of population genomic screening for rare diseases beyond the newborn period, share research progress made in the last decade, and discuss the path forward to prepare the medical and public health communities for population-based genomic screening.

Association of Polygenic Risk Scores for Hearing Difficulty in Older Adults With Hearing Loss in Mid-Childhood and Midlife: A Population-Based Cross-sectional Study Within the Longitudinal Study of Australian Children.
Jing Wang et al. JAMA otolaryngology-- head & neck surgery 2023 1

This population-based cross-sectional study, including 1608 children and 1642 adults, nested within the Longitudinal Study of Australian Children found that in contemporaneous population-based samples, PRSs computed from self-reported hearing difficulty in 40- to 69-year-old adults showed some evidence of association with hearing ability in 11- to 12-year-olds and their parents, but minimal evidence of associations with speech reception ability.

Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.
Sarah U Morton et al. JAMA network open 2023 1 (1) e2253191

Are damaging de novo variants in genes not previously associated with neurodevelopmental risk (dDNV-NR) associated with worse neurologic findings in individuals with congenital heart disease (CHD)? In this cross-sectional study of 221 patients with CHD, dDNV-NRs as a group were not associated with neurologic outcomes. In post hoc analyses, dDNVs and rare putative loss-of-function (pLOF) variants, especially in chromatin-modifying genes, were associated with worse neurodevelopmental and brain magnetic resonance imaging (MRI) metrics.


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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