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Hot Topics of the Day|PHGKB
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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

From the abstract: "What is the parental acceptance, feasibility, and screen-positive rate of targeted genome screening in newborns of different racial and ethnic groups? In this study of 4000 newborns, 72.0% of approached families consented to participate. Genome sequencing was successfully completed for 99.6% of participants. The screen-positive rate in a predefined gene panel was 3.7%. Targeted analysis of a predefined set of genes from genome sequencing for screening in a diverse newborn population is feasible and could expand the scope of newborn screening. "

The Path to Genomic Screening—Far From Simple, but the Journey Has Begun

From the article: "Today’s genomic technology introduces a multitude of assays that could be deployed in health care: diagnostic testing of patients with suspected monogenic conditions, polygenic risk prediction for common diseases, pharmacogenomic analysis for drug-gene interactions, analysis of tumors for targetable somatic sequence variations, and noninvasive screening for prenatal chromosomal disorders or occult cancer. Alongside these approaches we must also grapple with screening of the ostensibly healthy population for monogenic diseases of newborns, children, and adults with either targeted or genome-scale sequencing. "


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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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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