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Hot Topics of the Day|PHGKB
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10/14/2019

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

Was the Human Genome Project a dud?
EF Torrey, Dallas Morning News, October 13, 2019

Two decades later it has become clear that the Human Genome Project was vastly oversold. It has led to improvement for a few rare genetic conditions, but its major intellectual contribution to date has been a better understanding of human evolution. But for most human diseases the results have been meager.

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
H Lee et al, GIM, October 14, 2019

The study investigated the value of transcriptome sequencing (RNAseq) in ascertaining the consequence of DNA variants on RNA transcripts to improve the diagnostic rate from exome or genome sequencing for undiagnosed Mendelian diseases spanning a wide spectrum of clinical indications.

Exome sequencing: value is in the eye of the beholder
SD Grosse et al, Genetics in Medicine, October 14, 2019

What drives payers’ coverage decisions for genetic testing is not well understood. Payers often cite the lack of data on “clinical utility” as justification for noncoverage, but the understanding of what constitutes clinical utility varies. Does clinical utility also embrace the ability of a diagnosis to guide treatment options and to end diagnostic odysseys?

Mendelian Randomization—A Journey From Obscurity to Center Stage With a Few Potholes Along the Way
JAMA Neurology, October 14, 2019

For many years, MR languished as a somewhat obscure branch of epidemiology. More recently, it has been dusted off and successfully applied across a variety of settings. Here, we outline the journey of MR from obscurity to prominence. We describe the potholes along the way and discuss where this robust statistical analysis is headed in the future.


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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