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Hot Topics of the Day|PHGKB
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01/11/2023

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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Coronavirus variant XBB.1.5 rises in the United States - is it a global threat?
Callaway Ewen et al. Nature 2023 1 (7943) 222-223

New year, new variant. Just as scientists were getting to grips with the alphabet soup of SARS-CoV-2 variants circulating globally — your BQ.1.1, CH.1.1 and BF.7 — one lineage seems to be rising to the top, thanks to a peculiar new mutation. The XBB.1.5 subvariant now makes up around 28% of US COVID-19 cases, according to projections from the US Centers for Disease Control and Prevention, and its prevalence is on the rise globally. In the Northeastern United States, it seems to have rapidly out-competed the menagerie of other immunity-dodging variants that were expected to circulate alongside one another this winter.

Diet modulates genetic effects on longevity.
et al. Nature genetics 2023 1

Why some individuals live longer than others is of major interest across a range of scientific disciplines, from evolutionary biology to human health. Evolutionary theory tells us that lifespan-reducing alleles should be purged from the gene pool1, yet decades of genome-wide association studies (GWAS) and model organism studies have shown that such alleles persist. Here, we address one potential explanation for this conundrum, the idea that alleles that regulate lifespan do so only in certain contexts (known as ‘genotype-by-environment’ (GxE) effects).

Advancing Genomic Medicine in Africa: Work in Progress
J Osei et al, CDC Blog Post, January 9, 2023 Brand

Continued progress in genomic medicine to improve public health in Africa will require local-level capacity, expertise, and partnerships to conduct research and to assure the safe and equitable implementation of the field’s initiatives. Broad support from all interested parties including national and international governing authorities is crucial to guarantee the long-term sustainability of GM initiatives on the continent.

Identification of serum metabolome signatures associated with retinal and renal complications of type 2 diabetes.
Tomofuji Yoshihiko et al. Communications medicine 2023 1 (1) 5

We profiled serum metabolites of persons with type 2 diabetes with both DR and DKD (N?=?141) and without complications (N?=?159) using a comprehensive non-targeted metabolomics approach with mass spectrometry. Based on the serum metabolite profiles, case–control comparisons and metabolite set enrichment analysis (MSEA) were performed. Here we show that five metabolites (cyclohexylamine, P?=?4.5?×?10-6; 1,2-distearoyl-glycero-3-phosphocholine, P?=?7.3?×?10-6; piperidine, P?=?4.8?×?10-4; N-acetylneuraminic acid, P?=?5.1?×?10-4; stearoyl ethanolamide, P?=?6.8?×?10-4) are significantly increased in those with the complications. MSEA identifies fatty acid biosynthesis as the type 2 diabetes complications-associated biological pathway (P?=?0.0020).

Medullary Thyroid Carcinoma and Population Screening-The Promise and Pitfalls of Genetic Testing.
Davies Louise et al. JAMA otolaryngology-- head & neck surgery 2023 1

Geisinger invited its members to consent to whole-exome sequencing and linked the findings with electronic health record information to identify future targets for medication development and other interventions to improve population health. Patients would be notified through a specifically established MyCode counseling program if they were found to have known, actionable genetic variants. The program has been popular; more than 270?000 Geisinger members have now signed up. The expected rate of actionable variants is approximately 3.5%. The popularity of the program suggests that as broader testing begins to penetrate US health care outside of specialized programs like the Geisinger one, we can expect to see many more patients in our offices who present after having learned they have one of these variants.

Thyroidectomy Outcomes in Patients Identified With RET Pathogenic Variants Through a Population Genomic Screening Program.
Pichardo Priscilla F A et al. JAMA otolaryngology-- head & neck surgery 2023 1

Does a population genomic screening program that discloses pathogenic/likely pathogenic RET variants to patients facilitate early detection of medullary thyroid carcinoma (MTC)? In this cross-sectional study of 20 patients, the rate of MTC was 60% in those who underwent thyroidectomy after RET results disclosure and did not have prior clinical evidence of disease or identification of the variant outside of population genomic screening. The majority of these patients (83%) were identified at stage I.

Adoption of Innovative Therapies Across Oncology Practices-Evidence From Immunotherapy.
Carroll Caitlin E et al. JAMA oncology 2023 1

In this cohort study of 71?659 Medicare claims from 1732 oncology practices, most practices adopted immunotherapy within 2 years of FDA approval, but adoption was not equal across practice types: adoption was lower at rural vs urban practices and small vs large practices. Adoption was similar at independent practices and nonacademic systems, but both had lower adoption than practices that were part of academic systems. Results of the study suggest that adoption of immunotherapy has been rapid but uneven across oncology practices.


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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