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Hot Topics of the Day|PHGKB
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10/30/2019

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

Next Generation Sequencing and Bioinformatics Methodologies for Infectious Disease Research and Public Health: Approaches, Applications, and Considerations for Development of Laboratory Capacity.
Maljkovic Berry Irina et al. The Journal of infectious diseases 2019 Oct

In this review, we summarize the most common NGS and bioinformatics workflows in the context of infectious disease genomic surveillance and pathogen discovery, and highlight the main challenges and considerations for setting up an NGS and bioinformatics-focused infectious disease research public health laboratory.

Establishing a Multi-Country Sickle Cell Disease Registry in Africa: Ethical Considerations.
Munung Nchangwi Syntia et al. Frontiers in genetics 2019 10943

To facilitate research on SCD in Africa, the SickleInAfrica consortium has established a registry that will store longitudinal data from persons with SCD across sub-Saharan Africa. In establishing this registry, the consortium decided to actively identify and anticipate possible ethical issues that may arise in the development and management of the registry.

Why 100,000 poop photos may bring the next big thing in fitness tracking-New crowdsourcing initiative aims to build an app that tracks users' gastrointestinal health
S Salzman, NBC News, October 28, 2019

A computer scientist is working to build the world’s largest database of human stool photos — up to 100,000 in all. The images will be used to teach an artificial intelligence to tell the difference between stool that’s consistent with good health and stool that could be evidence of gastrointestinal ailments like irritable bowel syndrome or Crohn’s disease.

Does preventive oophorectomy increase the risk of depression in BRCA mutation carriers?
Kotsopoulos Joanne et al. Menopause (New York, N.Y.) 2019 Oct

Calling on Primary Care to Prevent BRCA-Related Cancers.
Armstrong Katrina et al. Journal of general internal medicine 2019 Oct

As a growing number of companies offer genetic testing directly to consumers and new models of genetic counseling are developed, primary care should capitalize on the opportunity to lead in the prevention of BRCA-related cancers-both to ensure that these services are delivered appropriately and that primary care is not left behind.

Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group.
Caudle Kelly E et al. Clinical and translational science 2019 Oct

Translating CYP2D6 genotype to metabolizer phenotype is not standardized across clinical laboratories offering pharmacogenetic (PGx) testing and PGx clinical practice guidelines, such as the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetics Working Group (DPWG).


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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