Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content


Hot Topics of the Day|PHGKB
Search PHGKB:

09/28/2020

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.

Sign up MyPHGKB to receive the daily hot topic email alert.

Search Archive:
Archived Hot Topics of the Day By Date

Cost-effectiveness Analysis of Genetic Testing and Tailored First-Line Therapy for Patients With Metastatic Gastrointestinal Stromal Tumors
S Banerjee et al, JAMA Network Open, September 28, 2020

This economic evaluation examined the cost-effectiveness of targeted gene testing with tailored imatinib dosing for patients with gastrointestinal stromal tumor based on KIT exon variation status. The model found that targeted gene testing was cost-effective, with an incremental cost-effectiveness ratio of $92?100, compared with empirical treatment with imatinib.

Differential Associations of Apolipoprotein E ε4 Genotype With Attentional Abilities Across the Life Span of Individuals With Down Syndrome
H D'Souza et al, JAMA Network Open, September 28, 2020

In a cross-sectional study including 80 young children and 240 adults with Down syndrome, an advantage was observed in attention for e4 carriers relative to e4 noncarriers among young children. Among young adults, no attentional advantage was observed in e4 carriers, and possession of an e4 allele was associated with a disadvantage among older adults.

Are We Ready for Population Screening for Hereditary Hemochromatosis?
S Grosse et al, CDC Blog, September 28, 2020 Brand

A CDC webinar calls attention to the large preventable burden of iron overload disease associated with HFE p.C282Y homozygosity. The natural history data presented here when paired with information on the effectiveness of phlebotomy for identified individuals can inform future discussions about population screening guidelines for HH.

Genome UK: the future of healthcare Strategy setting out the vision to extend the UK’s leadership in genomic healthcare and research.
Genome UK, September 26, 2020

Genome UK sets out how the genomics community will work together to harness the latest advances in genetic and genomic science, research, and technology for the benefit of patients. Our vision is to create the most advanced genomic healthcare ecosystem in the world.


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.
TOP