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Hot Topics of the Day|PHGKB
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11/02/2019

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

New Hope For Patients Living With Cystic Fibrosis After Scientists Unveil Therapy
NPR, November 1, 2019

NPR's Mary Louise Kelly talks with National Institutes of Health director Dr. Francis Collins about the new cystic fibrosis drug therapy that could benefit 90% of patients with the disease.

Establishing the Prevalence and Prevalence at Birth of Hemophilia in Males: A Meta-analytic Approach Using National Registries.
Iorio Alfonso et al. Annals of internal medicine 2019 Sep

The prevalence of hemophilia is higher than previously estimated. Patients with hemophilia still have a life expectancy disadvantage. Establishing prevalence at birth is a milestone toward assessing years of life lost, years of life with disability, and burden of disease.

Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap
D Klarin et al, Nature Genetics, November 1, 2019

We identified 22 previously unknown loci, bringing the total number of venous thromboembolism-associated loci to 33, and subsequently fine-mapped these associations. We developed a genome-wide polygenic risk score for venous thromboembolism that identifies 5% of the population at an equivalent risk to factor V Leiden p.R506Q and prothrombin G20210A mutations

Algorithmic Bias In Health Care: A Path Forward
Z Obermeyer et al, Health Affairs, November 1, 2019

An algorithm widely used for population health management has significant racial bias. The impact is large, affecting health care decisions for tens of millions of patients. The magnitude of bias is also large: removing bias from the algorithm would double the number of Black patients eligible for a program that gives medical help to the neediest patients.


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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