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Hot Topics of the Day|PHGKB
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11/15/2022

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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Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.
Holowatyj Andreana N et al. JAMA oncology 2022 11

What is the frequency of cancer susceptibility gene sequence variations in patients with appendix cancer? In this cohort study of 131 patients with appendix cancer who underwent clinical multigene panel testing, 11.5% harbored a pathogenic sequence variation. Among 74 patients with appendix cancer as the first and only primary tumor, a similar proportion (10.8%) carried a pathogenic sequence variation. The findings suggest that appendiceal cancer may be a previously underrecognized indication for hereditary cancer genetic testing (or a hereditary cancer syndrome) and that genetic evaluation should be considered for all patients with appendix cancer.

A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease
K Jalal et al, IJNS, November 15, 2022

The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Health and Human Services’ Recommended Uniform Screening Panel (RUSP) suggests LSDs for inclusion in state universal newborn screening (NBS) programs and has identified screening deficiencies in MPS I, KD, and PD NBS programs. MPS I NBS programs utilize newborn dried blood spots and assay alpha L-iduronidase (IDUA) enzyme to screen for potential cases.

AI detection of cardiac dysfunction from consumer watch ECG recordings
Nature Medicine, November 14, 2022

To enable large-scale screening for left ventricular dysfunction — a serious and under-detected cardiac disease — we applied artificial intelligence to electrocardiograms recorded by patients using their own Apple watches in a prospective, digital, remote study. We found that patients engaged with the system and that the watch electrocardiograms effectively screened for the disease.

Prospective evaluation of smartwatch-enabled detection of left ventricular dysfunction
ZI Attoa et al, Nature Medicine, November 14, 2022

Although artificial intelligence (AI) algorithms have been shown to be capable of identifying cardiac dysfunction, defined as ejection fraction (EF) = 40%, from 12-lead electrocardiograms (ECGs), identification of cardiac dysfunction using the single-lead ECG of a smartwatch has yet to be tested. We digitally enrolled 2,454 unique patients from 46 US states and 11 countries, who sent 125,610 ECGs to the data platform between August 2021 and February 2022; 421 participants had at least one watch-classified sinus rhythm ECG within 30?d of an echocardiogram, of whom 16 (3.8%) had an EF?=?40%. The AI algorithm detected patients with low EF with an area under the curve of 0.885.

Moderna data suggest new Covid booster is more effective against Omicron variants
M Herper, Stat News, November 14, 2022

Protection against infection with the Omicron BA.5 subvariant among people with previous SARS-CoV-2 infection - surveillance results from southern Sweden, June to August 2022
F Kahn et al, MEDRXIV, November 14, 2022

COVID Seq as Laboratory Developed Test (LDT) for diagnosis of SARS-CoV-2 Variants of Concern (VOC)
RE Carpenter et al, MEDRXIV, November 14, 2022

Risk factors and symptom clusters for Long Covid: analysis of United Kingdom symptom tracker app data.
E Ford et al, MEDRXIV, November 14, 2022

4,040 participants reporting for >4 months in the Covid Symptom Study App were included. Multivariate logistic regression was undertaken to identify risk factors associated with Long Covid. Cluster analysis and factor analysis were undertaken to investigate symptom clusters. Results: Long Covid affected 13.6% of participants. Significant risk factors included being female (P < 0.01), pre-existing poor health (P < 0.01), and worse symptoms in the initial illness. A model incorporating sociodemographics, comorbidities, and health status predicted Long Covid with an accuracy (AUROC) of 76%.

Protection conferred by Delta and BA.1/BA.2 infection against BA.4/BA.5 infection and hospitalization: A Retrospective Cohort Study
N Winchester et al, MEDSCAPE, November 14, 2022

Exploration of wastewater surveillance for Monkeypox virus
EM Meijia et al, MEDRXIV, November 14, 2022


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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