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Hot Topics of the Day|PHGKB
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10/14/2020

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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Found: genes that sway the course of the coronavirus
J Kaiser, Science, October 13, 2020

A U.K. group studying more than 2200 COVID-19 patients has pinned down common gene variants that are linked to the most severe cases of the disease, and that point to existing drugs that could be repurposed to help. “It’s really exciting. Each one provides a potential target” for treatment, says genetic epidemiologist Priya Duggal of Johns Hopkins University.

Magnitude, demographics and dynamics of the effect of the first wave of the COVID-19 pandemic on all-cause mortality in 21 industrialized countries
V Kontis et al, Nature Medicine, October 14, 2020

Application of Bayesian models to vital statistics data from 21 industrialized countries shows that approximately 206,000 additional people died than if the COVID-19 pandemic had not occured. The heterogeneous distribution of excess deaths reflects differences in how the pandemic was managed and the resilience of healthcare systems in these nations.

Predictors of mortality in hospitalized COVID-19 patients in Athens, Greece
D Gianoglou et al, MEDRXIV, October 14, 2020

COVID-CT-Mask-Net: Prediction of COVID-19 from CT Scans Using Regional Features
AT Sarkisov, MEDRXIV, October 14, 2020

Prioritisation of population groups with the most interactions for COVID-19 vaccination can substantially reduce total fatalities
J Rodriguez et al, MEDRXIV, October 14, 2020

SARS-CoV-2 sequencing reveals rapid transmission from college student clusters resulting in morbidity and deaths in vulnerable populations
CS Richmond et al, MEDRXIV, October 14, 2020

La Crosse County, Wisconsin experienced a substantial SARS-CoV-2 outbreak (2,002 cases in September 2020) that coincided with the return to in-person instruction at three local academic institutions. Genomic sequencing found rapid expansion of two viral substrains. Although the majority of cases were among college-age individuals, from a total of 111 genomes sequenced we identified rapid transmission of the virus into more vulnerable populations.

Predicting mortality of individual COVID-19 patients: A multicenter Dutch cohort
MC Ottenhoff et al, MEDRXIV, October 13, 2020

From a small town in North Carolina to big-city hospitals, how software infuses racism into U.S. health care
C Ross, Stat News, October 13, 2020

A common method of using analytics software to target medical services to patients who need them most is infusing racial bias into decision-making about who should receive stepped-up care.

Family History Plays Key Role in Germline Testing for Hereditary Breast and Ovarian Cancers
E DiNapoli, Onc Live, October 12, 2020

Understanding family history is needed to inform which panel of genes should be tested for in an individual who may be at increased risk for breast or ovarian cancers. New technology could allow patients to more easily compile these data is a necessary focus of ongoing research efforts.

As genome-editing trials become more common, informed consent is changing
Science Daily, October 12, 2020

As public interest and expanded research in human genome editing grows, many questions remain about ethical, legal and social implications of the technology. People who are seriously ill may overestimate the benefits of early clinical trials while underestimating the risks. This makes properly understanding informed consent, the full knowledge of risks and benefits of treatments, especially important.

The influence of common polygenic risk and gene sets on social skills group training response in autism spectrum disorder
D Li et al, NPJ Genomic Medicine, October 12, 2020

Social skills group training (SSGT) is a frequently used behavioral intervention in autism spectrum disorder (ASD), but the effects are moderate and heterogeneous. Here, we analyzed the effect of polygenic risk score (PRS) and common variants in gene sets on the intervention outcome.

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.
Zhang Xiaolei et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct

We developed a disease-specific variant classifier, CardioBoost, that estimates the probability of pathogenicity for rare missense variants in inherited cardiomyopathies and arrhythmias. We assessed CardioBoost's ability to discriminate known pathogenic from benign variants, prioritize disease-associated variants, and stratify patient outcomes.

Gene therapy and gene correction: targets, progress, and challenges for treating human diseases
MC Kring et al, Gene Therapy, October 2020

The field of gene therapy has made significant strides over the last several decades toward the treatment of previously untreatable genetic disease. Gene therapy techniques have been aimed at mitigating disease features of recessive and dominant disorders, as well as several cancers and other diseases.


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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