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Hot Topics of the Day|PHGKB
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Dec 12, 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
Last Posted: Dec-12-2019 09:12:12

She began to talk — then mysteriously fell silent. Months later her parents learned why.
SG Boodman, Washington Post, December 2019

Genetic sequencing revealed a mutation in the MECP2 gene, which is necessary for brain function. The mutation is associated with Rett Syndrome, a degenerative and incurable neurodevelopmental disorder that almost exclusively affects girls.

Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial.
Bombard Yvonne et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Dec

Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome.
Arnold Anke Marie et al. European journal of human genetics : EJHG 2019 Dec

Digital assessment of falls risk, frailty, and mobility impairment using wearable sensors
BR Greene, NPJ Digital Medicine, December 2019

Mass-producing wearable sensors: No sweat
LH Han, Sci Trans Med, December 11, 2019

Laser engraving can mass-produce cost-efficient, wearable sensors that monitor vital signs and sweat, detecting biomarkers linked to chronic diseases.

Cancer's epigenetic drugs: where are they in the cancer medicines?
Ghasemi Sorayya et al. The pharmacogenomics journal 2019 Dec

Making Machine Learning Accessible and Actionable for Clinicians.
Schneider David F et al. JAMA network open 2019 Dec (12) e1917362

Screening for Abdominal Aortic Aneurysm-A Call to Arms?
Mell Matthew et al. JAMA network open 2019 Dec (12) e1917168

Important risk factors for abdominal aortic aneurysm (AAA) include older age, male sex, smoking, and having a first-degree relative with an AAA. Read The USPSTF recommendation on screening for AAA based on a combination of these factors.

Homogeneity in the association of body mass index with type 2 diabetes across the UK Biobank: A Mendelian randomization study.
Wainberg Michael et al. PLoS medicine 2019 Dec (12) e1002982

Interventions to reduce body mass index are critical for type 2 diabetes prevention & are beneficial for high-risk and prediabetic individuals. A mendelian randomization study based on the UK biobank suggests that the same benefits apply to those at lower risk.

A gut reaction to exercise
A Curtis, Sci Trans Med, December 11, 2019

Alterations in gut microbiome composition and function predict those who respond favorably to exercise in metabolic control. A new study shines a light on the importance of gut microbiome and its metabolism in terms of glycemic control.

Tumor mutations are not alone in the plasma
K Naxoreva, Sci Trans Med, December 11, 2019

Analysis of cfDNA is challenging, as mutations occur at very low frequencies and can be difficult to interpret in the absence of matched tumor DNA. Now, a new study adds to these worries by showing that most cfDNA mutations detected in cancer patients originate in white blood cell clones and not in the tumor.

We’re Living In The DNA Future, But It’s Not The One We Were Promised
P Aldhous, Buzzfeed, December 11, 2019

But in reality, the 2010s would be when genetics got social. As the decade comes to a close, few of us have discussed our genes with our doctors, but millions of us have uploaded our DNA profiles to online databases to fill in the details of our family trees, explore our ethnic roots, and find people who share overlapping sequences of DNA.

Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics 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.