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Hot Topics of the Day|PHGKB
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May 30, 2023

Last Posted: May-30-2023 07:09:33

Prediction of breast cancer risk for sisters of women attending screening.
Xinhe Mao et al. J Natl Cancer Inst 2023 5

We included 53,051 women from the KARMA study. Established risk factors were derived using self-reported questionnaires, mammograms, and SNP genotyping. Using the Swedish Multi-Generation Register, we identified 32,198 sisters of the KARMA women. We found that a higher breast cancer polygenic risk score, a history of benign breast disease, and higher breast density in women were associated with an increased risk of breast cancer for both women and their sisters.

First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing
SL Stenton et al, GIM Open, May 29, 2023

There is discussion of expanding newborn screening (NBS) through the use of genomic sequence data, yet challenges remain in the interpretation of DNA variants. Population-level DNA variant databases are available, and it is possible to estimate the number of newborns that would be flagged as having a risk for a genetic disease (including false positives) via next generation sequencing (NGS screen positive).

Prosodic signatures of ASD severity and developmental delay in preschoolers.
Michel Godel et al. NPJ Digit Med 2023 5 (1) 99

Atypical prosody in speech production is a core feature of Autism Spectrum Disorder (ASD) that can impact everyday life communication. Because the ability to modulate prosody develops around the age of speech acquisition, it might be affected by ASD symptoms and developmental delays that emerge at the same period. Here, we investigated the existence of a prosodic signature of developmental level and ASD symptom severity in a sample of 74 autistic preschoolers.

Polygenic prediction of preeclampsia and gestational hypertension.
Michael C Honigberg et al. Nat Med 2023 5

Here we tested the association of maternal DNA sequence variants with preeclampsia in 20,064 cases and 703,117 control individuals and with gestational hypertension in 11,027 cases and 412,788 control individuals across discovery and follow-up cohorts using multi-ancestry meta-analysis. Altogether, we identified 18 independent loci associated with preeclampsia/eclampsia and/or gestational hypertension, 12 of which are new (for example, MTHFR–CLCN6, WNT3A, NPR3, PGR and RGL3), including two loci (PLCE1 and FURIN) identified in the multitrait analysis.

Why the world needs more transparency on the origins of novel pathogens
M Venter, Nature, May 30, 2023

Platforms such as GISAID (the Global Initiative on Sharing All Influenza Data) have enabled important sequencing data to be shared by scientists, with the aim of also protecting researchers’ intellectual property. However, users of these data need to work more closely with the data owners to maintain trust and ensure that sharing continues in the future. Most importantly, we urge scientists and governments to make available all data, research and reports that can help in the identification of the origins of novel pathogens for all outbreaks, epidemics and global health emergencies.


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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Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Genomics and Precision Public Health 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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