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Hot Topics of the Day|PHGKB
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11/08/2019

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

All children to receive whole genome sequencing at birth
The Telegraph, November 7, 2019

Ensuring the Life-Span Benefits of Newborn Screening.
Kemper Alex R et al. Pediatrics 2019 Nov

We feel there is a special obligation to the children identified through newborn screening because we have decided, as public policy, that early identification is crucial. The fundamental question is how to develop systems to ensure that early screening and detection for all leads to meaningful and equitable improvements in outcomes.

The Next Generation Sequencing Quality Initiative
CDC, November 2019 Brand

The Next Generation Sequencing (NGS) Quality Initiative is developing an NGS-focused quality management system (QMS) to address the many challenges public health and clinical laboratories encounter when they develop and implement NGS-based tests, by providing ready-to-implement guidance documents, customizable standard operating procedures, and other tools.

TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
AJHG, November 7, 2019

The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. n the first year, NIPT was performed in 73,239 pregnancies (42% of all pregnancies), 7,239 (4%) chose first-trimester combined testing.

Potential risks and solutions for sharing genome summary data from African populations
N Tiffin, Genome Medicine, November 7, 2019

Sharing of genome summary data from African populations can substantially enhance health research in Africa & elsewhere. However, open online exposure of genome data may expose these populations to unacceptable risks and potential harms.

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
A Linstrand et al, Genome Medicine, November 7, 2019

The overall diagnostic rate of 27% was more than doubled compared to clinical microarray (12%). Using WGS, we detected a wide range of SVs with high accuracy. Since the WGS data also allowed for analysis of SNVs, UPD, and STRs, it represents a powerful comprehensive genetic test in a clinical diagnostic laboratory setting.

Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry
JAMA Network Open, November 7, 2019

In this multistage, case-control, genome-wide association study that included 26?295 participants, the amyloid-ß A4 precursor protein-binding family B member 2 (APBB2) locus was significantly associated with primary open-angle glaucoma among individuals of African ancestry.


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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