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Hot Topics of the Day|PHGKB
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02/20/2020

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

Disparities in BRCA counseling across providers in a diverse population of young breast cancer survivors.
Reid Sonya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Feb

In a diverse population of young breast cancer survivors, only 20% had documented BRCA counseling via a genetics health professional (GHP). GHP involvement was associated with adherence to nationally recommended best practices.

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Chen Xiao et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Feb

The pan-cancer landscape of prognostic germline variants in 10,582 patients.
Chatrath Ajay et al. Genome medicine 2020 Feb (1) 15

Germline variants are predictive of outcome in cancer patients and specific germline variants can improve patient outcome predictions beyond predictions made using clinical factors alone.

The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests Either Too Narrow or Too Broad
MK Kilbride et al, JAMA, February 20, 2020

Direct to consumer genetic tests lack clinical utility for different reasons. Narrow tests are often incomplete, and only include a limited number of relevant variants.1 Broad tests, by contrast, are concerning because they often include genes for which well-established risk estimates, medical management guidelines, or both may be absent.

The next chapter for African genomics
A Maxmen, Nature, February 19, 2020

Defining the Epidemiology of Covid-19 - Studies Needed.
Lipsitch Marc et al. The New England journal of medicine 2020 Feb

The impact of an epidemic depends on the number of persons infected, the infection’s transmissibility, and the spectrum of clinical severity. Several questions are especially critical. For example, what is the full spectrum of disease severity (which can range from asymptomatic, to symptomatic-but-mild, to severe, to requiring hospitalization, to fatal)?

Disclosure of Genetic Risk Revealed in a Research Study.
Castellanos Angela et al. The New England journal of medicine 2020 Feb (8) 763-765


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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