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Hot Topics of the Day|PHGKB
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05/08/2020

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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Archived Hot Topics of the Day By Date

Quantifying SARS-CoV-2 transmission suggests epidemic control with digital contact tracing
L Ferretti et al, Science, May 8, 2020

Given the virus infectiousness and the high proportion of transmissions from presymptomatic individuals, controlling the epidemic by manual contact tracing is infeasible. A contact-tracing app with a memory of proximity contacts and notifies them would be sufficient to stop the epidemic, in particular when combined with other measures such as physical distancing

Training deep learning algorithms with weakly labeled pneumonia chest X-ray data for COVID-19 detection
S Rajaraman et al, MEDRXIV, May 8, 2020

Longitudinal peripheral blood transcriptional analysis of COVID-19 patients captures disease progression and reveals potential biomarkers
Q Yan et al, MEDRXIV, May 8, 2020

Global genetic diversity patterns and transmissions of SARS-CoV-2
ZW Chen et al, MEDRXIV, May 8, 2020

Suboptimal biological sampling as a probable cause of false-negative COVID-19 diagnostic test results
NN Kinloch et al, MEDRXIV, May 8, 2020

FDA gives emergency authorization for CRISPR-based diagnostic tool for coronavirus
J Achenbach et al, Washington Post, May 7, 2020

Improving reporting standards for polygenic scores in risk prediction studies
H Wand et al, MEDRXIV, May 8, 2020

Drawing upon experts in epidemiology, statistics, disease-specific applications, implementation, and policy, this 33-item reporting framework defines the minimal information needed to interpret and evaluate a polygenic risk score, especially with respect to any downstream clinical applications.

Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing
MM Hendrix et al, IntJ Neonatal Screening May 2020

To provide comprehensive quality assurance and technical assistance to newborn screening laboratories wishing to incorporate NGS assays, CDC’s Newborn Screening and Molecular Biology Branch designed a study to evaluate the performance of nine commercial or laboratory-developed DNA extraction methods.

Insufficient Evidence for “Autism-Specific” Genes
SM Myers et al, AJHG, May 7, 2020

Despite the evidence that deleterious variants in the same genes are implicated across multiple disorders, the recent literature reflects considerable interest in identifying genes that, when mutated, confer risk that is largely specific for ASD.

Efficacy of Immunotherapy in Microsatellite-Stable or Mismatch Repair Proficient Colorectal Cancer—Fact or Fiction?
RB Corcoran et al, JAMA Oncology, May 7, 2020

The observation that a subset of patients with MSS colorectal cancer may derive some modest benefit from combined immune checkpoint blockade suggests that novel combinations of immune checkpoint inhibitors with agents that may further enhance the immune response may be a promising approach, and several clinical trials are ongoing.

Use of Real-World Evidence in US Payer Coverage Decision-Making for Next-Generation Sequencing–Based Tests: Challenges, Opportunities, and Potential Solutions
P Deverka et al, Value in Health, May 2020

We identified 3 categories of innovation that may help address the current undersupply of RWE studies for NGS: (1) increasing use of RWE to inform outcomes-based contracting for new technologies, (2) precision medicine initiatives that integrate clinical and genomic data and enable data sharing, and (3) FDA reforms to encourage the use of RWE.

Insights From a Temporal Assessment of Increases in US Private Payer Coverage of Tumor Sequencing From 2015 to 2019
JR Trosman et al, Value in Health, May 2020

Temporal analyses revealed trends of payer coverage for tumor sequencing. This included an increase but continued variability in coverage over 3.5 years, the possible contribution of CMS decision to the pace of private payers’ coverage, and the impact of using a third-party policy on coverage timing, and the importance of small payers in early adoption.

Identification of type 2 diabetes loci in 433,540 East Asian individuals
CN Spracklen et al, Nature, May 6, 2020

We carried out a meta-analysis of GWAS data from 77,418 individuals with T2D and 356,122 healthy control individuals. In the main analysis, we identified 301 distinct association signals at 183 loci, and across T2D association models with and without consideration of body mass index and sex, we identified 61 loci that are newly implicated in predisposition to T2D

Statin drugs might boost healthy gut microbes
P Libby, Nature News, May 6, 2020

An analysis of faecal samples reveals that obese people who take cholesterol-lowering statin drugs have a ‘healthier’ community of gut microorganisms than would be expected. What are the implications of this surprising finding?

Statin therapy is associated with lower prevalence of gut microbiota dysbiosis
SV Silva et al, Nature, May 7, 2020

NIH-supported research survey to examine impact of COVID-19 on rare diseases community
NIH, May 7, 2020 Brand

For the millions of people living with a rare disease, the novel coronavirus disease COVID-19 presents challenges, from potential reduced access to needed medical care to possible heightened anxiety and stress. A new online survey aims to find out how the COVID-19 pandemic is impacting individuals with rare diseases, their families and their caregivers.


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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