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Hot Topics of the Day|PHGKB
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04/17/2020

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

Predictive Mathematical Models of the COVID-19 Pandemic Underlying Principles and Value of Projections
NP Jewell et al, JAMA, April 16, 2020

Estimates that emerge from modeling studies are only as good as the validity of the epidemiological or statistical model used; the extent and accuracy of the assumptions made; and, perhaps most importantly, the quality of the data to which models are calibrated.

Portable and accurate diagnostics for COVID-19: Combined use of the miniPCR thermocycler and a well-plate reader for SARS-CoV-2 virus detection
EG Gonzalez et al, MEDRXIV, April 16, 2020

More Small Molecule Clinical Data Against Covid-19, As of April 16
D Lowe, Sci Trans Med, April 16, 2020

Improving Coronavirus (COVID-19) Diagnosis using Deep Transfer Learning
I Razzak et al, MEDRXIV, April 17, 2020

CRISPR And Spit Might Be Keys To Faster, Cheaper, Easier Tests For The Coronavirus
J Palca, NPR, April 17, 2020

Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis.
Zhong Xue et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr

The sticky culprit: Platelets in cystic fibrosis
S Sengupta, Sci Trans Med, April 15, 2020

The landscape of pharmacogenetic testing in a US managed care population.
Anderson Heather D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr

We used a random sample of nearly 11 million patients from a data set of paid medical and pharmacy claims to identify patients with at least one claim indicating receipt of pharmacogenetic tests. We found that pharmacogenetic testing through patients’ insurance was low, but more than doubled from 2013 to 2016.

The uptake of predictive DNA testing in 40 families with a pathogenic BRCA1/BRCA2 variant. An evaluation of the proband-mediated procedure
FH Menko et al, EJHG, April 16, 2020

Factors complicated cascade screening included family members living abroad, probands not wanting to share information and limited pedigree information. The standard proband-mediated procedure of informing relatives seems to be far from optimal. We suggest a tailored approach, including the option of a direct approach to at-risk relatives by the geneticist.

From GWAS to GEMMs: Sestrin1 and cholesterol biosynthesis
EJ Gallagher, Sci Trans Med, April 15, 2020

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Hartley Taila et al. Annual review of genomics and human genetics 2020 Apr

The current diagnostic paradigm is not well designed for rare diseases, especially for patients who remain undiagnosed after the initial investigations. Given recent advancements in such technologies and international initiatives, the prospect of identifying a molecular diagnosis for all patients with rare diseases has never been so attainable


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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