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Hot Topics of the Day|PHGKB
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10/13/2023

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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Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
F Guo et al, Genetics in Medicine, October 12, 2023

From the abstract: "Genome sequencing (GS) is one of the most comprehensive assays that interrogate single nucleotide variants, copy number variants, mitochondrial variants, repeat expansions, and structural variants in one assay. Despite the clear technical superiority, the full clinical utility of GS has yet to be determined. The overall diagnostic yield was 28% (585/2100). The diagnostic yield for GS as the first-tier test was 26% (294/1146). Among cases with prior non-diagnostic genetic tests, GS provided a diagnosis for 27% (247/910) of cases. "

Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study
RY Eberhardt et al, Genetics in Medicine, October 12, 2023

From the abstract: "We aim to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders. We identified MCAs in SNP array data from 12,530 probands in the Deciphering Developmental Disorders (DDD) study. We found 61 MCAs in 57 probands, many of these were tissue specific. In 23/26 (88.5%) cases for which the MCA was detected in saliva where blood was also available for analysis, the MCA could not be detected in blood. The MCAs included 20 polysomies. "

Circulating Tumor HPV DNA for Surveillance of HPV-Positive Oropharyngeal Squamous Cell Carcinoma: A Narrative Review.
Krystle A Lang Kuhs et al. JAMA Oncol 2023 10

From the abstract: "This article reviews the current state of knowledge, highlights existing knowledge gaps, and suggests research that should be prioritized to understand the association between biomarker-based surveillance and patient outcomes. Specific attention is paid to the commercially available tumor tissue–modified viral HPV DNA assay, given its increasing clinical use. This review may serve as a road map for future research and a guide for clinicians considering its adoption in practice. Enrollment of patients into clinical trials incorporating biomarker-based surveillance should be prioritized. "

Concordance of a High Lipoprotein(a) Concentration Among Relatives.
Laurens F Reeskamp et al. JAMA Cardiol 2023 10

From the abstract: "What is the prevalence of high lipoprotein(a) concentrations (=125 nmol/L) in first- and second-degree relatives of individuals with high lipoprotein(a) levels? In this cross-sectional study, 1607 of 3420 (47.0%) first-degree relatives of UK Biobank participants with a lipoprotein(a) concentration at least 125 nmol/L were similarly affected, compared with 4974 of 30 258 (16.4%) unrelated individuals. Cascade screening of first-degree relatives of individuals with high lipoprotein(a) levels, if implemented at scale, is likely to identify a substantial number of additional high-risk individuals. "


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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