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Hot Topics of the Day|PHGKB
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12/13/2019

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

Machine Learning and the Cancer-Diagnosis Problem - No Gold Standard.
Adamson Adewole S et al. The New England journal of medicine 2019 Dec (24) 2285-2287

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.
Downie Lilian et al. European journal of human genetics : EJHG 2019 Dec

This is population-derived cohort comprised infants with moderate-profound bilateral HI born in the 2016–2017 calendar years, detected through newborn hearing screening. The high diagnostic yield and clinical implications emphasises the need for genomic sequencing to become standard of care.

Digital clinical trials: creating a vision for the future
SR Steinhubl et al, NPJ Digital Medicine, December 12, 2019

Digital technologies have transformed every aspect of our lives including the way we communicate, shop, and read. Digital health technologies, despite their reputation for over-promising and under-delivering, can potentially offer the solutions needed to transform clinical trial. However, this cannot be accomplished by replicating the current research processes.

Ethical, Legal, and Social Implications of Human Genomics Research: Past, Present and Future
CDC Seminar, January 27, 2020 Brand

For more than two decades, the National Human Genome Research Institute has (NHGRI) has been committed to driving the responsible use of genomics in society in order to advance knowledge and ensure that genomics benefits the health of all populations.

Hereditary Hemochromatosis: Are We Ready for Population Screening?
CDC Seminar, January 15, 2019 Brand

The iron overload seen in hemochromatosis can be treated, and even prevented, through phlebotomy. However, many with the condition do not know they have it and are not treated until after the iron overload has caused permanent damage. Is it time for population-based screening for the C282Y mutation?


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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