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Hot Topics of the Day|PHGKB
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05/25/2021

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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What scientists know about new, fast-spreading coronavirus variants
D Adam, Nature News, May 24, 2021

Since the SARS-CoV-2 variant known as B.1.617 was first reported in India late last year, it has spread to dozens of other countries — including the United States, Singapore and the United Kingdom, where it has become dominant in some regions. Researchers have since identified three subtypes, known as B.1.617.1 (the ‘original’ B.1.617), B.1.617.2 and B.1.617.3, each with a slightly different genetic make-up. But key questions remain about how quickly B.1.617 variants can spread, their potential to evade immunity and how they might affect the course of the pandemic.

To curb COVID-19, global health must go local: The surge in COVID-19 cases in India and Brazil highlights the need to improve vaccine manufacturing capacity and investment in public health at the local level.
Nature Medicine, May 24, 2021

Rapid And high throughput RT-qPCR assay for identification and differentiation between SARS-CoV-2 variants B.1.1.7 and B.1.351
O Ester et al, MEDRXIV, May 24, 2021

Emergence of SARS-CoV-2 variants of concern in the pediatric population of the United States
JD Bard et al, MEDRXIV, May 24, 2021

We report data from a genomic surveillance program that includes 9 U.S. children's hospitals. Analysis of SARS-CoV-2 genome from 2119 patients <19 years old between 03/20 to 04/21 identified 252 VOCs and 560 VOC signature mutations, most from 10/20 onwards. From 02/21 to 04/21, B.1.1.7 prevalence increased from 3.85% to 72.22% corresponding with the decline of B.1.429/B.1.427 from 51.82% to 16.67% at one institution. 71.74% of the VOC signature mutations detected were in children <12 years old, including 33 cases of B.1.1.7 and 119 of B.1.429/B.1.427.

Effectiveness of COVID-19 vaccines against the B.1.617.2 variant
JL Bernard et al, MEDRXIV, May 24, 2021

After 2 doses of either vaccine there were only modest differences in vaccine effectiveness with the B.1.617.2 variant. Absolute differences in vaccine effectiveness were more marked with dose 1. This would support maximising vaccine uptake with two doses among vulnerable groups.

Nucleocapsid mutation R203K/G204R increases the infectivity, fitness and virulence of SARS-CoV-2
H Wu et al, BIORXIV, May 24, 2021

Severe Acute Respiratory Syndrome Coronavirus-2 genome sequence variations relate to morbidity and mortality in Coronavirus Disease-19
P Mehta et al, BIORXIV, May 24, 2021

Investigating the possible origin and transmission routes of SARS-CoV-2 genomes and variants of concern in Bangladesh
AA Nahid et al, BIORXIV, May 24, 2021

Genome-wide identification and prediction of SARS-CoV-2 mutations show an abundance of variants: Integrated study of bioinformatics and deep neural learning.
MS Hossain et al, BIORXIV, May 24, 2021

Core Concept: Herd immunity is an important—and often misunderstood—public health phenomenon
P McDermott, PNAS, May 25, 2021

The public health concept of herd immunity has a more nuanced definition than its popular usage, which is one reason why predicting when we’ll achieve it remains difficult. In theory, estimating the threshold to reach herd immunity through vaccination or natural infections involves a simple mathematical calculation. But it’s one that’s more easily done with a well-understood pathogen and a well-characterized population. And although the basic equations are straightforward, choosing the right inputs and interpreting the results are not.

New Variant Posing Threat, as Global Vaccine Drive Falters - The coronavirus variant first seen in India is rapidly outpacing all others in Britain, a problem for the U.K. and a potential new burden on poorer nations.
B Mueller, NY Times, May 24, 2021

Partial recovery of visual function in a blind patient after optogenetic therapy
JA Sahel et al, Nature Medicine, May 24, 2021

Optogenetics may enable mutation-independent, circuit-specific restoration of neuronal function in neurological diseases. Retinitis pigmentosa is a neurodegenerative eye disease where loss of photoreceptors can lead to complete blindness. In a blind patient, we combined intraocular injection of an adeno-associated viral vector encoding ChrimsonR with light stimulation via engineered goggles

‘N of 1’ therapies need a better model
AA Rus, Nature Medicine, May 24, 2021

Oligonucleotides offer therapeutic potential for patients with genetic disorders carrying unique mutations, but developing individualized therapies is not supported by the current process for drug development.

Prediction of future Alzheimer’s disease dementia using plasma phospho-tau combined with other accessible measures
S Palmqvist et al, Nature Medicine, May 24, 2021

A combination of plasma phospho-tau (P-tau) and other accessible biomarkers might provide accurate prediction about the risk of developing Alzheimer’s disease (AD) dementia. We examined this in participants with subjective cognitive decline and mild cognitive impairment from the BioFINDER (n?=?340) and Alzheimer’s Disease Neuroimaging Initiative (ADNI) (n?=?543) studies. Plasma P-tau, plasma Aß42/Aß40, plasma neurofilament light, APOE genotype, brief cognitive tests and an AD-specific magnetic resonance imaging measure were examined using progression to AD as outcome. Within 4 years, plasma P-tau217 predicted AD accurately (area under the curve (AUC) = 0.83) in BioFINDER. Combining plasma P-tau217, memory, executive function and APOE produced higher accuracy (AUC = 0.91, P?<?0.001).

Wearable sensors enable personalized predictions of clinical laboratory measurements
J Dunn et al, Nature Medicine, May 24, 2021

We examined whether vital signs as measured by consumer wearable devices (that is, continuously monitored heart rate, body temperature, electrodermal activity and movement) can predict clinical laboratory test results using machine learning models, including random forest and Lasso models. Our results demonstrate that vital sign data collected from wearables give a more consistent and precise depiction of resting heart rate than do measurements taken in the clinic

Identification of microbial markers across populations in early detection of colorectal cancer
Y Wu et al, Nat Comms, May 24, 2021

Associations between gut microbiota and colorectal cancer (CRC) have been widely investigated. However, the replicable markers for early-stage adenoma diagnosis across multiple populations remain elusive. Here, we perform an integrated analysis on 1056 public fecal samples, to identify adenoma-associated microbial markers for early detection of CRC.

Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data
DL Smith et al, EJHG, May 24, 2021

Delineation of how the phenotypic homogeneity of genetic epilepsies varies with age could improve the phenotypic classification of these disorders, the accuracy of prognostic counseling, and by providing historical control data, the design and interpretation of precision clinical trials in rare diseases.

Combining Clinical and Polygenic Risk Improves Stroke Prediction Among Individuals with Atrial Fibrillation.
O'Sullivan Jack W et al. Circulation. Genomic and precision medicine 2021 5

Compared with the currently recommended risk tool (CHA2DS2-VASc), the integrated tool significantly improved net reclassification (NRI: 2.3% (95%CI: 1.3% to 3.0%)), and fit (?2 P =0.002). Using this improved tool, >115,000 people with AF would have improved risk classification in the US.


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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