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Hot Topics of the Day|PHGKB
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11/10/2019

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

Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project.
Sanderson Saskia C et al. BMJ open 2019 Nov (11) e029699

Healthcare professionals responsible for delivering clinical genome sequencing have largely positive views about the potential for genome sequencing to improve diagnostic yield, but also significant concerns about practical aspects of offering these tests.

Guidelines for the management of hereditary colorectal cancer from the BSG /ACPGBI/UKCGG
British Society Gastroenterology, October 2019

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/ Association of Coloproctologists of Great Britain and Ireland (ACPGBI)/ United Kingdom Cancer Genetics Group (UKCGG).

Lower germline mutation rates in young adults predict longer lives and longer reproductive lifespans
RM Cawthon et al, MedRXIV, November 2019

Germline mutation accumulation rates in healthy young adults may provide a measure of both reproductive and systemic aging. The data further suggest that mutation accumulation rates are established around puberty, just when DNA repair genes' expression levels are known to begin their lifelong decline.

Assessment of the Association of D2 Dopamine Receptor Gene and Reported Allele Frequencies With Alcohol Use Disorders A Systematic Review and Meta-analysis
Y Jung et al, JAMA Network Open, November 9, 2019

In this meta-analysis, the significant association of DRD2 with AUD was reassessed. The DRD2 association was attributable to anomalously low control allele frequencies, not function, in positive studies.

Factors associated with oncologist discussions of the costs of genomic testing and related treatments.
Yabroff K Robin et al. Journal of the National Cancer Institute 2019 Nov

Among oncologists who discussed genomic testing with patients, 50.0% reported often discussing the likely costs of testing and related treatments; 26.3% reported sometimes discussing costs; and 23.7% reported never or rarely discussing costs. Interventions can target oncologist and practice factors, such as training in genomic testing and use of EMR alerts.

Mom’s immune system and microbiome may help predict premature birth
A Keener, Science News, November 8, 2019

Putting it all together, the team developed an “immune clock” of pregnancy — a mathematical model that links the many immune parameters with how far along a pregnancy is. The model, reported in 2017 in Science Immunology, accurately estimated the gestational ages of a new set of 10 pregnancies.

Mendelian randomisation for mediation analysis: current methods and challenges for implementation
AR Carter et al, BIORXIV, November 9, 2019

Phenotypic mediation methods require strong, often untestable, assumptions. Mendelian randomisation provides an opportunity for improving causal inference in mediation analysis.


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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