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Hot Topics of the Day|PHGKB
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11/04/2019

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

A roadmap for familial hypercholesterolemia control
AC Pereira, The Lancet Digital Health, October 2019

In an era of personalized medicine, familial hypercholesterolemia is potentially one of the most tractable conditions to deliver the promised society-wide benefits of the implementation of this paradigm. Controlling the disease, however, requires a multipronged approach and the orchestrated participation of several different stakeholders.

Realizing the Dream of Molecularly Targeted Therapies for Cystic Fibrosis.
Collins Francis S et al. The New England journal of medicine 2019 Oct

The journey to gene-based therapies for cystic fibrosis began with enthusiasm over the prospect of gene therapy. But the challenges of using gene transfer to achieve long-lasting correction in the airway proved daunting.

Dissecting racial bias in an algorithm used to manage the health of populations
Z Obermeyer et al, Science, November 2019

Less money is spent on Black patients who have the same level of need, and the algorithm thus falsely concludes that Black patients are healthier than equally sick White patients. Reformulating the algorithm so that it no longer uses costs as a proxy for needs eliminates the racial bias.

Diagnosis and Management of Dementia: Review.
Arvanitakis Zoe et al. JAMA 2019 10 (16) 1589-1599

Additional evaluation with cerebrospinal fluid assays or genetic testing may be considered in atypical dementia cases, such as age of onset younger than 65 years, rapid symptom onset, and/or impairment in multiple cognitive domains.

Opening the Black Box of Artificial Intelligence for Clinical Decision Support: A Study Predicting Stroke Outcome
E Zihni et al, MedRXIV, November 4, 2019

We present in this work the first explainability comparison of two modern ML methods, tree boosting and multilayer perceptrons, to traditional logistic regression methods using a stroke outcome prediction paradigm. Here, we used clinical features to predict a dichotomized 90 days post-stroke.


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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