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Hot Topics of the Day|PHGKB
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10/12/2020

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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Microbes and microbiomes in 2020 and beyond
A Natarjan et al, Nature Communications, October 2020

In the next decade, advances in our understanding of microbes and microbiomes will likely transform our way of life; providing novel therapeutics, alternate energy sources, and shaping fundamental doctrines of biology. We explore the promises herein, and tools required to achieve this progress.

Regulatory landscape of providing information on newborn screening to parents across Europe
V Frankova et a, EJHG, October 10, 2020

This survey explored whether any legally binding provisions existed pertaining to the provision of information about NBS to parents across Europe. 27 countries participated in the survey. Most countries have some sort of legal framework or guidelines for providing information to parents. 37% indicated that the provision of information was required prenatally.

A model-based cost-effectiveness analysis of pharmacogenomic panel testing in cardiovascular disease management: preemptive, reactive, or none?
Y Zhu et al, Genetics in Medicine, October 12, 2020

This study compared the cost-effectiveness between preemptive PGx panel testing, reactive PGx panel testing and usual care in cardiovascular disease management. Preemptive testing was found to be cost-effective compared with usual care (ICER $86,227/QALY) at the willingness-to-pay threshold of $100,000/QALY while reactive testing was not (ICER $148,726/QALY).

Excess Deaths From COVID-19 and Other Causes, March-July 2020
SH Woolf et al, JAMA, October 12, 2020

Between March 1 and August 1, 2020, 1?336?561 deaths occurred in the US, a 20% increase over expected deaths. 2/3 of the 225530 excess deaths were directly attributed to COVID-19.

Development of wastewater pooled surveillance of SARS-CoV-2 from congregate living settings
LM Colosi et al, MEDRXIV, October 11, 2020

SARS-CoV-2 genomic characterization and clinical manifestation of the COVID-19 outbreak in Uruguay
V Elizondo et al, MEDRXIV, October 11, 2020

Germline Testing for Lynch Syndrome: More Important Than Ever
B Cote, Onc Nursing News, October 2020

With the emergence of several targeted treatments that have shown efficacy in individuals with germline pathogenic variants, specifically in DNA mismatch repair, the need for germline genetic testing has become even more pronounced.

Diagnostics of Mutations in MMR/EPCAM Genes and Their Role in the Treatment and Care of Patients with Lynch Syndrome
J Sobocinka et al, MDPI Diagnostics, October 2020

In this review, the mutations involved with LS and their diagnostic methods are described and compared, as are their current uses in clinical decision making. LS diagnosis is based on a review of family medical history, and when necessary, microsatellite instability (MSI) or/and immunohistochemistry (IHC) analyses. In the case of a lack of MMR protein expression (dMMR) or MSI-H (MSI-High) detection in tumor tissue, molecular genetic testing can be undertaken.


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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