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Hot Topics of the Day|PHGKB
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07/19/2022

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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Global genomic surveillance strategy for pathogens with pandemic and epidemic potential, 2022–2032
WHO, March 2022

The Strategy provides a high-level unifying framework to leverage existing capacities, address barriers and strengthen the use of genomic surveillance in the detection, monitoring and response to public health threats. Genomic surveillance is part of the broader surveillance and laboratory system, and its implementation should reinforce end-to-end capacities including sample collection, diagnostics, data sharing and analysis. The strategy aims to facilitate the connectivity between different disease control programs and surveillance networks.

Accelerating access to genomics for global health: promotion, implementation, collaboration, and ethical, legal, and social issues: a report of the WHO Science Council
WHO, July 2022

This publication presents the recommendations of the WHO Science Council to the Director-General on accelerating access to genomics for global health. A series of workshops was held in 2021 to gather information and perspectives on this topic. Fifteen actions are recommended to achieve the goal of accelerating access to genomics for global health.

How did Mendel arrive at his discoveries?
van Dijk Peter J et al. Nature genetics 2022 7 (7) 926-933

Using deep learning-based natural language processing to identify reasons for statin nonuse in patients with atherosclerotic cardiovascular disease
A Sarraju et al, Comm Medicine, July 2022

The NLP classifiers identify statin nonuse with an area under the curve (AUC) of 0.94 (95% CI 0.93–0.96) and reasons for nonuse with a weighted-average AUC of 0.88 (95% CI 0.86–0.91) when evaluated against manual expert chart review in a held-out test set. Clinical BERT identifies key patient-level reasons (side-effects, patient preference) and clinician-level reasons (guideline-discordant practices) for statin nonuse, including differences by type of ASCVD and patient race/ethnicity.

Recommendations for achieving interoperable and shareable medical data in the USA
A Sfarzman et al, Comm Medicine, July 19, 2022

We recommend the implementation of standardized data collection and transmission systems, universal identifiers for individual patients and end users, a reference standard infrastructure to support calibration and integration of laboratory results from equivalent tests, and modernized working practices. Requiring comprehensive and binding standards, rather than incentivizing voluntary and often piecemeal efforts for data exchange, will allow us to achieve the analytical information environment that patients need.

A systematic review of healthcare provider-targeted mobile applications for non-communicable diseases in low- and middle-income countries
P Geldsetzer et al, NPJ Digital Medicine, July 19, 2022

Cardiology was the most common clinical domain of the technologies evaluated, with 89 publications. mHealth innovations were predominantly developed using Apple’s iOS operating system. Cost data were provided in only 50 studies, but most technologies for which this information was available cost less than 20 USD. Only 24 innovations targeted the ten NCDs responsible for the greatest number of disability-adjusted life years lost globally. Most publications evaluated products created in high-income countries. Reported mHealth technologies are well-developed, but their implementation in LMICs faces operating system incompatibility and a relative neglect of NCDs causing the greatest disease burden.

Modeling global 80-80-80 blood pressure targets and cardiovascular outcomes
SJ Pickersgill et al, Nature Medicine, July 18, 2022

We developed a population CVD model using country-level evidence on CVD rates, blood pressure levels and hypertension intervention coverage. Under realistic implementation conditions, most countries could achieve 80-80-80 targets by 2040, reducing all-cause mortality by 4–7% (76–130 million deaths averted over 2022–2050) and slowing the rise in CVD expected from population growth and aging (110–200 million cases averted).

How gut bacteria could boost cancer treatments
J Erdmann, Nature, July 19, 2022

Increasingly, research is showing that the gut microbiome can have good or bad effects on the progression of distant tumors, the side effects of treatments and the ability of the immune system to pick off cancer cells. Some research has linked specific bacteria to beneficial effects, which could point to tailored treatments. And scientists are exploring the role of diet and gut-microbe diversity, as well as revealing interactions between the organisms that reside in the gut and those that live in tumors themselves, potentially opening up new targets for treatment.

Safety of heterologous primary and booster schedules with ChAdOx1-S and BNT162b2 or mRNA-1273 vaccines: nationwide cohort study.
Andersson Niklas Worm et al. BMJ (Clinical research ed.) 2022 7 e070483

Heterologous primary and booster covid-19 vaccine schedules of ChAdOx1-S priming and mRNA booster doses as both second and third doses were not associated with increased risk of serious adverse events compared with homologous mRNA vaccine schedules. These results are reassuring but given the rarity of some of the adverse events, associations cannot be excluded.

Determinants of Spike Infectivity, Processing and Neutralization in SARS-CoV-2 Omicron subvariants BA.1 and BA.2
C Pastorio et al, Cell Host and Microbe, July 17, 2022

We systematically introduced BA.1 and/or BA.2 Omicron Spike mutations into the ancestral Spike protein and examined impacts on Spike function, processing and susceptibility to neutralization. Individual mutations of S371F/L, S375F and T376A in the ACE2 receptor-binding domain as well as Q954H and N969K in the hinge region 1 impaired infectivity, while changes of G339D, D614G, N764K and L981F moderately enhanced it. Most mutations in the N-terminal region and the receptor binding domain reduced sensitivity of the Spike protein to neutralization by sera from individuals vaccinated with the BNT162b2 vaccine and by therapeutic antibodies. Our results represent a systematic functional analysis of Omicron Spike adaptations that have allowed this SARS-CoV-2 variant to dominate the current pandemic.

A monoclonal antibody stands out against omicron subvariants: a call to action for a wider access to bebtelovimab
M Hentzien et al, Lancet Inf Dis, July 18, 2022

The prevalence of SARS-CoV-2 infection and other public health outcomes during the BA.2/BA.2.12.1 surge, New York City, April-May 2022
S Qasmieh et al, MEDRXIV, July 18, 2022

Ad26.COV2.S priming provides a solid immunological base for mRNA-based COVID-19 booster vaccination
D Geers et al, MEDRXIV, July 18, 2022

A simple SEIR-V model to estimate COVID-19 prevalence and predict SARS-CoV-2 transmission using wastewater-based surveillance data
T Phan et al, MEDRXIV, July 18, 2022

Efficacy of the AZD1222 (ChAdOx1 nCoV-19) COVID-19 Vaccine Against SARS-CoV-2 Variants of Concern
AL Koen et al, MEDRXIV, July 18, 2022

Recommendations for clinical interpretation of variants found in non-coding regions of the genome
JM Ellingford et al, Genome Medicine, July 19, 2022

We discuss considerations specifically for variants in non-coding regions of the genome. We outline how to define candidate regulatory elements, highlight examples of mechanisms through which non-coding region variants can lead to penetrant monogenic disease, and outline how existing guidelines can be adapted for the interpretation of these variants. These recommendations aim to increase the number and range of non-coding region variants that can be clinically interpreted, which, together with a compatible phenotype, can lead to new diagnoses and catalyse the discovery of novel disease mechanisms.


Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics 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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