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Hot Topics of the Day|PHGKB
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08/28/2020

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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The coronavirus is most deadly if you are older and male — new data reveal the risks
S Mallapaty, Nature News, August 28, 2020

For every 1,000 people infected with the coronavirus who are under the age of 50, almost none will die. For people in their fifties and early sixties, about five will die — more men than women. The risk then climbs steeply as the years accrue. For every 1,000 people in their mid-seventies or older who are infected, around 116 will die.

Prevention of endothelial dysfunction and thrombotic events in COVID-19 patients with familial hypercholesterolemia.
Vuorio Alpo et al. Journal of clinical lipidology 2020 Jun

Development and evaluation of a rapid CRISPR-based diagnostic for COVID-19.
Hou Tieying et al. PLoS pathogens 2020 Aug (8) e1008705

We developed a rapid and sensitive diagnostic for SARS-CoV-2 infection, and compared it to sequencing-based metagenomic and RT-PCR-based assays in a clinical cohort. The test demonstrated a sensitivity level of near single copy and was highly specific without cross reacting to related pathogens. It takes only 40 mins and provides a valuable alternative to the conventional RT–PCR assay to circumvent the bottlenecks in assay turnaround time.

People with Moderate to Severe Asthma
CDC, August 2020 Brand

People with moderate to severe asthma may be at higher risk of getting very sick from COVID-19. COVID-19 can affect your nose, throat, lungs (respiratory tract); cause an asthma attack; and possibly lead to pneumonia and acute respiratory disease.

Data on COVID-19 during Pregnancy
CDC, August 2020 Brand

A recent study suggests that pregnant women with COVID-19 are more likely to be hospitalized and are at increased risk for intensive care unit (ICU) admission and receipt of mechanical ventilation than nonpregnant women. Risk of death is similar for both groups. But much remains unknown.

Efficient high-throughput SARS-CoV-2 testing to detect asymptomatic carriers
N Shental et al, Science Advances, August 2020

We developed P-BEST - a method for Pooling-Based Efficient SARS-CoV-2 Testing which identifies all positive subjects within a large set of samples using a single round of testing. Each sample is assigned into multiple pools using a combinatorial pooling strategy based on compressed sensing designed for maximizing carrier detection.

For Quick Coronavirus Testing, Israel Turns to a Clever Algorithm
DM Halbfinger, NY Times, August 27, 2020

Inspired by a mother’s question, the new method will be introduced across Israel this fall, just in time for flu season, and could be coming soon to the U.S.

The Role of Digital Health Technologies in Drug Development: Proceedings of a Workshop
NASEM Roundtable on Genomics and Precision Health Workshop, 2020

This workshop explored how virtual clinical trials facilitated by digital health technologies (DHTs) might change the landscape of drug development. Participants considered how DHTs could be applied to achieve the greatest impact—and perhaps even change the face of how clinical trials are conducted—in ways that are also ethical, equitable, safe, and effective.

Pediatric pharmacogenomics: challenges and opportunities: on behalf of the Sanford Children’s Genomic Medicine Consortium
D Gregornik et al, Pharmacogenetics Journal, August 26, 2020

Clearly, there are limitations to clinical pharmacogenomic testing. While test results may provide a lifelong benefit, at the present time we are limited by the numbers of genes and variants that can be reliably tested. New evidence continues to emerge that may require reinterpretation of results.

CYP2C19 Genotyping to Guide Antiplatelet Therapy After Percutaneous Coronary Interventions: One Size Rarely Fits All.
Moliterno David J et al. JAMA 2020 08 (8) 747-749

The future is pointing toward a personalized strategy for therapeutic interventions, and genotype-guided approaches should be part of this strategy—the question is how much. However, the clinical evidence at this moment does not support the routine use of personalized genotype-based selection of antiplatelet therapy for patients with coronary artery disease.

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Roman Tamara S et al. American journal of human genetics 2020 Aug

We enrolled healthy newborns and children with metabolic diseases or hearing loss (106 participants total). ES confirmed the participant’s underlying diagnosis in 88% of children with metabolic disorders and in 5 out of 28 (~18%) children with hearing loss. We discovered actionable findings in four participants that would not have been detected by standard NBS.

Tailoring Intensity of Active Surveillance for Low-Risk Prostate Cancer Based on Individualized Prediction of Risk Stability.
Cooperberg Matthew R et al. JAMA oncology 2020 Aug e203187

In this multicenter cohort study including 850 men and an independent validation cohort of 533 men, 7 clinical parameters available for nearly all men on surveillance predicted non-reclassification at 4 years, with high negative predictive value. These findings suggest that active surveillance regimens can be tailored to individual risk.

Genetic Disease Risk Impacted by Entire Genome, Study Reveals
J Kent, Health Analytics, August 27, 2020

In people with a single-gene variant that contributes to high genetic disease risk – specifically for heart disease, breast cancer, or colorectal cancer – the rest of the genome can alter that risk. Some individuals are genetically predisposed to disease, but these disease predictions aren’t always accurate.

Is Artificial Intelligence Better Than Human Clinicians in Predicting Patient Outcomes?
Lee Joon et al. Journal of medical Internet research 2020 Aug (8) e19918

Performance of machine learning–based patient outcome prediction models has rarely been compared with that of human clinicians in the literature. Both human and AI predictions should be investigated together with the aim of achieving a human-AI symbiosis that synergistically and complementarily combines AI with the predictive abilities of clinicians.


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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