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Hot Topics of the Day|PHGKB
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06/06/2024

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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Family communication of cancer genetic test results in an ethnically diverse population: a qualitative exploration of more than 200 patients

From the abstract: " Previous research on family communication of cancer genetic test results has primarily focused on non-Hispanic White patients with high-risk pathogenic variants (PV). There are limited data on patient communication of moderate-risk PVs, variants of uncertain significance (VUS), and negative results. This qualitative study examined communication of positive, negative, and VUS hereditary cancer multi-gene panel (MGP) results in an ethnically and socioeconomically diverse population. "

Genetic Testing for Global Developmental Delay in Early Childhood

From the article: "What are the implications of genetic testing for global developmental delay (GDD) in early childhood? Findings: In this cohort study of 434 children with GDD, a diagnostic positivity rate of 61% was identified when using trio whole exome sequencing combined with copy number variation sequencing. A thorough analysis expanded the scope of indications for genetic testing, and the pathogenesis of GDD was further elucidated using a bioinformatics approach. Meaning: These findings suggest that early use of combined genetic testing for GDD may diminish the misdiagnosis rate, elucidate the etiologic diagnosis, and lay the groundwork for identifying novel early diagnostic biomarkers and intervention targets. "


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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