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Hot Topics of the Day|PHGKB
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12/19/2019

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

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati Elias L et al. Genome medicine 2019 Dec (1) 83

Initial analysis revealed diagnostic variants in 13 rare disease cases (25.4%) and 5 sudden death cases (10%). Re-analysis resulted in the identification of additional diagnostic variants in 3 rare disease cases (5.9%) and 1 sudden unexplained death case (2%), which increased our molecular diagnostic yield to 31.4% and 12%, respectively.

Artificial Intelligence in Health Care- A Report From the National Academy of Medicine
ME Matheny et al, JAMA, December 17, 2019

This Viewpoint summarizes the 2019 AI in Healthcare report from the National Academy of Medicine (NAM), which reviews best practices for AI development, adoption, and maintenance and urges prioritization of equity, inclusion, and human rights in AI health system implementation.

HIV & AIDS with DNA HIV

Test for HIV Drug–Resistance Mutations
F Sancar, JAMA, December 17, 2019

The new test can help health care providers better tailor drug treatment for patients who are beginning antiviral therapy and also for those who have developed resistance to HIV drugs by helping to identify mutations in the HIV-1 virus that can impact the effectiveness of certain drugs.

Effect of Concurrent Chemoradiation With Celecoxib vs Concurrent Chemoradiation Alone on Survival Among Patients With Non–Small Cell Lung Cancer With and Without Cyclooxygenase 2 Genetic Variants- A Phase 2 Randomized Clinical Trial
N Bi et al, JAMA Network Open, December 18, 2019

Could selective cyclooxygenase 2 inhibition combined with standard concurrent chemoradiation therapy improve survival among patients with unresectable stage III non–small cell lung cancer?

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi Eva et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Dec

key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders. Genetic testing helped identify an etiological diagnosis in the majority of 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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