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Hot Topics of the Day|PHGKB
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09/10/2020

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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Use of “normal” risk to improve understanding of dangers of covid-19
D Spiegelhalter, BMJ, September 9, 2020

Accumulating data on deaths from covid-19 show an association with age that closely matches the “normal” risk we all face. Explaining risk in this way could help people understand and manage their response,

Risk stratification of patients admitted to hospital with covid-19 using the ISARIC WHO Clinical Characterisation Protocol: development and validation of the 4C Mortality Score
SR Knight et al, BMJ, September 9, 2020

An easy-to-use risk stratification score has been developed and validated based on commonly available parameters at hospital presentation. The 4C Mortality Score outperformed existing scores, showed utility to directly inform clinical decision making, and can be used to stratify patients admitted to hospital with covid-19 into different management groups.

Racial/Ethnic Variation in Nasal Gene Expression of Transmembrane Serine Protease 2 (TMPRSS2)
S Bunyavanitch et al, JAMA, September 10, 2020

This study of nasal epithelial gene expression in a racially/ethnically diverse cohort showed significantly higher expression of TMPRSS2 in Black individuals compared with other races/ethnicities. Given the essential role of TMPRSS2 in SARS-CoV-2 entry,higher nasal expression of TMPRSS2 may contribute to the higher burden of COVID-19 among Black individuals

Covid-19 Molecular Diagnostic Testing - Lessons Learned.
Shuren Jeffrey et al. The New England journal of medicine 2020 Sep

Although the EUA approach resulted in earlier test availability, the less-rigorous evidence standard, coupled with delayed FDA review, allowed the use of several LDTs that proved to have performance problems or to be poorly validated. In analyzing 125 EUA requests, we identified 82 with design or validation problems, and several have been denied authorization.

Minimum information about clinical artificial intelligence modeling: the MI-CLAIM checklist
B Norgeot et al, Nature Medicine

We present the MI-CLAIM checklist, a tool intended to improve transparent reporting of AI algorithms in medicine. MI-CLAIM has two purposes: first, to enable a direct assessment of clinical impact, including fairness and bias; and second, to allow rapid replication of the technical design process of any legitimate clinical AI study.

Those designing healthcare algorithms must become actively anti-racist
K Owens et al, Nature Medicine, September 9, 2020

Many widely used health algorithms have been shown to encode and reinforce racial health inequities. Because automated systems are becoming so crucial to access to health, researchers in the field of artificial intelligence must become actively anti-racist. Here we list some concrete steps to enable anti-racist practices in medical research and practice.

BIVV001 Fusion Protein as Factor VIII Replacement Therapy for Hemophilia A.
Konkle Barbara A et al. The New England journal of medicine 2020 Sep (11) 1018-1027

In a small, early-phase study involving men with severe hemophilia A, a single intravenous injection of BIVV001 resulted in high sustained factor VIII activity levels, with a half-life that was up to four times the half-life associated with recombinant factor VIII, an increase that could signal a new class of factor VIII replacement therapy.

Health Equity - Are We Finally on the Edge of a New Frontier?
Evans Michele K et al. The New England journal of medicine 2020 Sep (11) 997-999

Health equity is “the absence of avoidable differences among socioeconomic and demographic groups or geographical areas in health status and health outcomes such as disease or mortality.”

Racial Differences in Genomic Profiling of Prostate Cancer.
Mahal Brandon A et al. The New England journal of medicine 2020 Sep (11) 1083-1085

Clinically significant alterations may occur at different frequencies across races. Notably, Black men with metastatic prostate cancer were more likely than either White or Asian men to have tumor mutations in AR, along with mutations in DNA-repair genes and actionable genetic mutations. This finding could have implications for prognosis, response to therapy.


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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