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Hot Topics of the Day|PHGKB
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02/25/2020

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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Should polygenic risk scores be used in risk-stratified colorectal cancer screening?
WD Dotson et al, CDC Blog Post, February 24, 2020 Brand

Dcreening based on polygenic risk prediction is not ready for widespread implementation. Stratification based on polygenic and/or multifactorial risk assessment may mature to the point of displacing family history-based approaches, but for the foreseeable future, family history may remain a valuable clinical tool for identifying individuals at increased risk.

Biological Versus Chronological Aging- JACC Focus Seminar
JACC Focus Seminar, February 2020

In a progressively aging population, it is essential to develop early-life biomarkers that efficiently identify individuals who are at high risk of developing accelerated vascular damage, with the ultimate goal of improving primary prevention and reducing the health care and socioeconomic impact of age-related cardiovascular disease.

Characteristics of and Important Lessons From the Coronavirus Disease 2019 (COVID-19) Outbreak in China: Summary of a Report of 72 314 Cases From the Chinese Center for Disease Control and Prevention.
Wu Zunyou et al. JAMA 2020 Feb

This Viewpoint summarizes key epidemiologic and clinical findings from all cases of coronavirus disease 2019 (COVID-19) reported through February 11, 2020, in mainland China, and case trends in response to government attempts to control and contain the infection.

Annual DNA Day Essay Contest
ASHG, 2020

2020 Question: Ancestry testing is a form of direct-to-consumer genetic testing designed to inform customers about their genetic ancestry. There are three types of testing: Y chromosome testing, mitochondrial DNA testing, and autosomal DNA testing. If a person did all three ancestry tests, what types of information could they learn?

Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
JC Kapetanovic et al. Nature Medicine, February 24, 2020

Retinal gene therapy has shown great promise in treating retinitis pigmentosa, a primary photoreceptor degeneration that leads to severe sight loss in young people. In the present study, we report the first-in-human phase 1/2, dose-escalation clinical trial. There were no notable safety concerns after subretinal delivery of an adeno-associated viral vector.


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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