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Hot Topics of the Day|PHGKB
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02/17/2023

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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A systematic review of economic evaluations of whole-genome sequencing for the surveillance of bacterial pathogens.
Vivien Price et al. Microbial genomics 2023 2 (2)

Six hundred and eighty-one articles were identified, of which 49 proceeded to full-text screening, with 9 selected for inclusion. All had been published since 2019. Heterogeneity was high. Five studies assessed WGS for hospital surveillance and four analyzed foodborne pathogens. Four were cost-benefit analyses, one was a cost-utility analysis, one was a cost-effectiveness analysis, one was a combined cost-effectiveness and cost-utility analysis, one combined cost-effectiveness and cost-benefit analyses and one was a partial analysis. All studies supported the use of WGS as a surveillance tool on economic grounds.

Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
JL Deignan et al, Genetics in Medicine, February 16, 2023

Next-generation sequencing methods can also be used to more fully characterize a variety of conditions identified at autopsy that are suspected of having a heritable cause. For specific clinical indications such as sudden arrhythmic death syndrome, postmortem genetic testing has a relatively high diagnostic yield. As “molecular autopsies” involving postmortem genetic testing become more common, there is a need to address the unique set of challenges and issues inherent in postmortem testing.

New and emerging approaches to treat psychiatric disorders.
Katherine W Scangos et al. Nature medicine 2023 2

Here we review new and emerging treatment approaches, with a particular emphasis on the revolutionary potential of brain-circuit-based interventions for precision psychiatry. Limitations of circuit models, challenges of bringing precision therapeutics to market and the crucial advances needed to overcome these obstacles are presented.

CRISPR gene-editing therapies for hypertrophic cardiomyopathy.
Alanna Strong et al. Nature medicine 2023 2

Hypertrophic cardiomyopathy (HCM) is a primary cardiac disorder characterized by abnormal heart muscle thickening and caused by heterozygous pathogenic variants in genes encoding sarcomeric proteins. HCM often presents during young adulthood and can progress to heart failure, arrhythmia and sudden cardiac death. Pre-symptomatic gene editing in preclinical models of hypertrophic cardiomyopathy shows therapeutic promise; clinical studies are now needed to assess safety and efficacy in humans.

COVID-19 Vaccination Coverage and Demographic Characteristics of Infants and Children Aged 6 Months-4 Years - United States, June 20-December 31, 2022.
Bhavini Patel Murthy et al. MMWR. Morbidity and mortality weekly report 2023 2 (7) 183-189

As of December 31, 2022, coverage with =1 COVID-19 vaccine dose among young children (those aged 6 months–4 years) was 10.1%, and 5.1% had completed the primary series. Coverage among young children varied by jurisdiction, urbanicity, race, and ethnicity. Five months after the COVID-19 vaccines became available to young children, their vaccination coverage is substantially lower than that in older children.

COVID-19 Bivalent Booster Vaccination Coverage and Intent to Receive Booster Vaccination Among Adolescents and Adults - United States, November-December 2022.
Peng-Jun Lu et al. MMWR. Morbidity and mortality weekly report 2023 2 (7) 190-198

Based on interviews conducted during November–December 2022, only 27.1% of adults and 18.5% of adolescents who had completed a COVID-19 primary series received a bivalent booster, and coverage was lower among Black and Hispanic persons. An additional 39.4% of adults were open to booster vaccination, and an additional 52.0% of adolescents had parents who were open to booster vaccination for their children. Those in rural areas had much lower primary series completion rate and up-to-date vaccination coverage.

The role of wastewater-based epidemiology for SARS-CoV-2 in developing countries: cumulative evidence from South Africa supports sentinel site surveillance to guide public health decision-making
SJI Jaja et al, MEDRXIV, February 15, 2023

Seven laboratories using different test methodology, quantified influent wastewater collected from 87 wastewater treatment plants (WWTPs) located in all nine South African provinces for SARS-CoV-2 from 01 June 2021 to 31 May 2022 inclusive, during the 3rd and 4th waves of COVID-19. Variation in the strength of correlation across testing laboratories, and redundancy of findings across co-located testing plants, suggests that test methodology should be standardised and that surveillance networks may utilize a sentinel site model without compromising the value of WBE findings for public health decision-making.

Wastewater genomic surveillance tracks the spread of the SARS-CoV-2 Omicron variant across England
F Bruner et al, MEDRXIV, February 16, 2023

We analyzed more than 19,000 samples from 524 wastewater sites across England at least twice a week between November 2021 and February 2022, capturing sewage from >70% of the English population. We show that wastewater data can reconstruct the spread of the Omicron variant across England since November 2021 in close detail and aligns closely with epidemiological estimates from individual testing data. We also show the temporal and spatial spread of Omicron within London.

Post-COVID syndrome is associated with capillary alterations, macrophage infiltration and distinct transcriptomic signatures in skeletal muscles
T Aschman et al, MEDRXIV< February 16, 2023

Compared to two independent historical control cohorts, patients with post-COVID exertion intolerance had fewer capillaries, thicker capillary basement membranes and increased numbers of CD169+ macrophages. SARS-CoV-2 RNA could not be detected in the muscle tissues, but transcriptomic analysis revealed distinct gene signatures compared to the two control cohorts, indicating immune dysregulations and altered metabolic pathways.

Polygenic Risk Scores for Asthma and Allergic Disease Associate with COVID-19 Severity in 9/11 Responders
M Wasczuk et al, MEDRXIV, February 16, 2023

Relatively little is known about the associations between PRS and COVID-19 severity or post-acute COVID-19 in community-dwelling individuals. Methods. Participants in this study were 983 World Trade Center responders infected for the first time with SARS-CoV-2. The results indicate that recently developed polygenic biomarkers for asthma, allergic disease, and COVID-19 hospitalization capture some of the individual differences in severity and clinical course of COVID-19 illness in a community population.


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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