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Hot Topics of the Day|PHGKB
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11/25/2021

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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A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial
LM van den Heuvel et al, EJHG, November 24, 2021

If undetected, inherited cardiac conditions can lead to sudden cardiac death, while treatment options are available. Predictive DNA testing is therefore advised for at-risk relatives, and probands are currently asked to inform relatives about this. However, fewer than half of relatives attend genetic counselling. In this trial, we compared a tailored approach to informing relatives, in which probands were asked whether they preferred relatives to be informed by themselves or by the genetic counsellor, with current practice.

Bias and privacy in AI's cough-based COVID-19 recognition
HB Espinoza et al, Lancet Digital Health, December 2021

SARS-CoV-2 antigen-detecting rapid tests for the delta variant
M Bekliz et al, Lancet Microbe, November 24, 2021

In this study, the accuracy of 11 Ag-RDTs to detect variants of concern was determined. Analytical validation with cultured virus might be a proxy for clinical accuracy, but it is not a replacement for clinical evaluations. Nevertheless, we showed that, despite slight differences in sensitivity, Ag-RDTs remain, in principle, effective to detect variants of concern, including the now-dominant delta variant.

Effectiveness of BNT162b2 Vaccine against Delta Variant in Adolescents.
Reis Ben Y et al. The New England journal of medicine 2021 10 (22) 2101-2103

We sought to estimate the vaccine effectiveness of BNT162b2 against the delta variant among vaccinated adolescents for whom an unvaccinated match was found. We used data from Clalit Health Services, the largest health care organization in Israel, to conduct an observational cohort study involving adolescents between the ages of 12 and 18 years who had no prior SARS-CoV-2 infection noted in their electronic medical record and who had been vaccinated between June 8 and September 14, 2021. Our results show that the BNT162b2 mRNA vaccine was highly effective in the first few weeks after vaccination against both documented infection and symptomatic Covid-19 with the delta variant among adolescents between the ages of 12 and 18 years.

COVID-19 Vaccine Makers Plan for Annual Boosters, but It’s Not Clear They’ll Be Needed
R Rubin, JAMA, November 24, 2021

Only time will tell whether COVID-19 vaccines require periodic boosting. “The bottom line is that we don’t know,” Anthony Fauci, MD, director of the National Institute of Allergy and Infectious Diseases, said in a recent interview. “My feeling is what happens in the next 8 to 10 months is going to be very telling.”

Determining international spread of novel B.1.1.523 SARS-CoV-2 lineage
L Zemaitis et al, MEDRXIV, November 24, 2021

Investigating SARS-CoV-2 breakthrough infections per variant and vaccine type
J Dingemans et al, November 24, 2021

Development and Evaluation of AccuPower® COVID-19 Multiplex Real-Time RT-PCR Kit and AccuPower® SARS-CoV-2 Multiplex Real-Time RT-PCR Kit for SARS-CoV-2 Detection in Sputum, NPS/OPS, Saliva and Pooled Samples
I Burn et a, MEDRXIV, November 24, 2021

Use of Artificial Intelligence on spatio-temporal data to generate insights during COVID-19 pandemic: A Review
GC Jayatilaka et al, MEDRXIV, November 24, 2021

Artificial Intelligence, or AI, with its wide ranging capabilities and versatility, has played a vital role and thus has had a sizable impact. In this review, we present a comprehensive analysis of the use of AI techniques for spatio-temporal modeling and forecasting and impact modeling on diverse populations as it relates to COVID-19. Furthermore, we catalogue the articles in these areas based on spatio-temporal modeling, intrinsic parameters, extrinsic parameters, dynamic parameters and multivariate inputs (to ascertain the penetration of AI usage in each sub area).

SARS-CoV-2 within-host and in-vitro genomic variability and sub-genomic RNA levels indicate differences in viral expression between clinical and in-vitro cohorts.
JC Johnson-McKinnon et al, MEDRXIV, November 24, 2021

Severe COVID-19 induces molecular signatures of aging in the human brain
M Mavrikaki et al, MEDRXIV, November 24, 2021

A genome-wide association study of COVID-19 related hospitalization in Spain reveals genetic disparities among sexes
SCOURGE, MEDRXIV, November 24, 2021

Increased risk of infection with SARS-CoV-2 Beta, Gamma, and Delta variant compared to Alpha variant in vaccinated individuals
SP Andeweg et al, MEDRXIV, November 24, 2021

We find evidence for an increased risk of infection by the Beta (B.1.351), Gamma (P.1), or Delta (B.1.617.2) variants compared to the Alpha (B.1.1.7) variant after vaccination. No clear differences were found between vaccines. However, the effect was larger in the first 14-59 days after complete vaccination compared to 60 days and longer. In contrast to vaccine-induced immunity, no increased risk for reinfection with Beta, Gamma or Delta variants relative to Alpha variant was found in individuals with infection-induced immunity.

Effectiveness of BNT162b2 and ChAdOx1 against SARS-CoV-2 household transmission - a prospective cohort study in England
S Clifford et al, MEDRXIV, November 24, 2021

Changing the Course of an Orphan Disease.
Schmidinger Manuela et al. The New England journal of medicine 2021 11 (22) 2090-2091

Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease.
Jonasch Eric et al. The New England journal of medicine 2021 11 (22) 2036-2046

A rare autosomal dominant hereditary disorder, von Hippel–Lindau (VHL) disease is caused by germline pathogenic variants in the VHL gene. VHL disease occurs in approximately 1 in every 27,300 to 39,000 live births. The condition is associated with benign and malignant neoplasms. Belzutifan was associated with predominantly grade 1 and 2 adverse events and showed activity in patients with renal cell carcinomas and non–renal cell carcinoma neoplasms associated with VHL disease.

The Imperative of Responsible Innovation in Reproductive Medicine.
Mastenbroek Sebastiaan et al. The New England journal of medicine 2021 11 (22) 2096-2100

Responsible innovation requires that novel, potentially risky reproductive technologies be the subject of careful research that proceeds in a stepwise fashion from preclinical investigation to clinical trials and, ultimately, to long-term follow-up studies. Given the lack of high-level evidence of the effectiveness for PGT-A and the potential for adverse consequences, the use of PGT-A is best limited at present to the research setting.


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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