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Hot Topics of the Day|PHGKB
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07/15/2024

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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Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada

From the abstract: "Is diagnosis from genome-wide sequencing associated with reduced health care costs for children with suspected rare diseases? Findings: In this cohort study of 3 groups of children who underwent genome-wide sequencing in England (7775 children in a research study) or Canada (118 children who received publicly funded sequencing and 77 children in a research study), diagnosis from genome-wide sequencing was not associated with changes in health care or diagnostic costs. Meaning: These findings suggest that sustainable clinical implementation of genome-wide sequencing must be motivated by evidence of patient and family benefit and cost-effectiveness rather than promises of cost savings from earlier diagnosis. "

Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals

From the abstract: " An early genetic diagnosis can guide the time-sensitive treatment of individuals with genetic epilepsies. However, most genetic diagnoses occur long after disease onset. We aimed to identify early clinical features suggestive of genetic diagnoses in individuals with epilepsy through large-scale analysis of full-text electronic medical records (EMR)... We identified 47,774 age-dependent associations of clinical features with genetic etiologies a median of 3.6 years prior to molecular diagnosis. Across all 710 genetic etiologies identified in our cohort, neurodevelopmental differences between 6-9 months increased the likelihood of a later molecular diagnosis fivefold."


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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