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Hot Topics of the Day|PHGKB
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07/11/2022

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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Comprehensive Genomic Sequencing–Based Screening for Hearing Loss in the Neonatal Intensive Care Setting—Is It Time?
AN Abou Tayoun, JAMA Network Open, July 11, 2022

A recent study suggests that targeted genetic screening—using population-specific common pathogenic variants—combined with physiological and cytomegalovirus testing may be an effective newborn screening strategy for hearing loss, in critically ill neonates and beyond. This combinatory approach has the additional benefit of identifying mild and later-onset hearing loss and providing valuable genetic information that is often missed by traditional NHBS. However, additional work is needed to characterize the genetic landscape of hearing loss across populations and to define the optimal population-wide genetic screening method for deafness.

Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit
Y Zhu et al, JAMA Network Open, July 11, 2022

Is expanded genomic sequencing combined with hearing screening associated with the detection of hearing loss and the improvement in the clinical management of patients in the neonatal intensive care unit (NICU)? Findings In this cohort study that included 8078 patients in the NICU, expanded genomic sequencing was associated with a 15.6% increase in cases of diagnosed hearing loss that were missed by hearing screening and changed the clinical management strategies of these patients. Of 52 patients with a diagnosis of hearing loss, 39 (75%) had genetic findings and experienced a more severe degree of hearing loss.

Poziotinib for EGFR exon 20-mutant NSCLC: Clinical efficacy, resistance mechanisms, and impact of insertion location on drug sensitivity
YY Elamin et al, Cell, July 11, 2022

We report a phase II study of 50 advanced non-small cell lung cancer (NSCLC) patients with point mutations or insertions in EGFR exon 20 treated with poziotinib (NCT03066206). The study achieved its primary endpoint, with confirmed objective response rates (ORRs) of 32% and 31% by investigator and blinded independent review, respectively, with a median progression-free survival of 5.5 months.

BA.5, Chapter 2 Significant updates from the previous BA.5 story
E Topol, Ground Truths Blog, July 10, 2022

Two weeks ago I tried to pull together all we knew about the Omicron BA.5 variant (The BA.5 story). I didn’t think another chapter about this variant would be warranted, especially this soon, but there’s been quite a bit of new data worthy of review. In the United States, the march of exponential growth for BA.5 has progressed to dominance, accounting for ~54% of current infections as of July 2nd, which is really toward the end of June with the known delays in sequencing and reporting.

SARS-CoV-2 Omicron BA.5: Evolving tropism and evasion of potent humoral responses and resistance to clinical immunotherapeutics relative to viral variants of concern.
A Aggarwal et al, MEDRXIV, July 10, 2022

Assessing the impact of SARS-CoV-2 lineages and mutations on patient survival
C Loucera et al, MEDRXIV, July 10, 2022

Modeling the impact of the Omicron infection wave in Germany
BF Maier et al, MEDRXIV, July 10, 2022

Monkeypox genomic surveillance will challenge lessons learned from SARS-CoV-2.
Pfaff Florian et al. Lancet (London, England) 2022 7 (10345) 22-23

Circulating monkeypox virus might be undergoing adaption for the human host, so we must keep its genetic changes under tight surveillance so as to be prepared when sudden epidemiological changes and prevent the emergence of a variola virus epigone. This surveillance, however, will require a conceptual shift from observing lone single nucleotide polymorphisms, as with SARS-CoV-2 variants, towards watching closely for the integrity and stability of the monkeypox virus genomic termini.


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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