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Hot Topics of the Day|PHGKB
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01/02/2023

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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Archived Hot Topics of the Day By Date

Genomics and phenomics of body mass index reveals a complex disease network.
Huang Jie et al. Nature communications 2022 12 (1) 7973

Using a BMI genetic risk score including 2446 variants, 316 diagnoses are associated in the Million Veteran Program, with 96.5% showing increased risk. A co-morbidity network analysis reveals seven disease communities containing multiple interconnected diseases associated with BMI as well as extensive connections across communities. Mendelian randomization analysis confirms phenotypes across many organ systems, including conditions of the circulatory (heart failure, ischemic heart disease, atrial fibrillation), genitourinary (chronic renal failure), respiratory (respiratory failure, asthma), musculoskeletal and dermatologic systems.

DNA methylation provides molecular links underlying complex traits
Nature Genetics, January 2, 2023

We profiled human DNA methylation for 987 GTEx samples across nine tissues and characterized how genetic regulation of the methylome, compared with the transcriptome, contributes to GWAS phenotypes. This resource contributes to our understanding of molecular regulatory mechanisms in human tissues and their effects on complex traits.

Accounting for diversity in the design of CRISPR-based therapeutic genome editing
K Saha, Nature Genetics, January 2, 2023

CRISPR cell and gene therapy have been designed largely with respect to a single reference human genome. A new study reveals how human genetic diversity could lead to off-target effects and presents a new tool to identify these risks.

Cancer immunotherapy: the quest for better biomarkers.
et al. Nature medicine 2022 12 (12) 2437

Immune-checkpoint inhibitors (ICIs) that block the immunoinhibitory receptor PD-1 and its ligand PD-L1 or the immunomodulatory receptor CTLA-4 have had a transformational impact on the care of patients with cancer, offering curative potential for patients who until recently had no suitable therapeutic options. It is now becoming clear that many patients who receive ICIs do not benefit from treatment but remain at risk for potentially serious immune-related adverse events. Expanding the benefit of ICIs to more patients and limiting the impact of their adverse effects will require better biomarkers of response and toxicity.

Infectiousness of SARS-CoV-2 breakthrough infections and reinfections during the Omicron wave
ST Tan et al, Nature Medicine, January 2, 2023

Analyzing SARS-CoV-2 surveillance data from December 2021 to May 2022 across 35 California state prisons with a predominately male population, we estimate that unvaccinated Omicron cases had a 36% (95% confidence interval (CI): 31–42%) risk of transmitting infection to close contacts, as compared to a 28% (25–31%) risk among vaccinated cases. In adjusted analyses, we estimated that any vaccination, prior infection alone and both vaccination and prior infection reduced an index case’s risk of transmitting infection by 22%, 23% and 40%, respectively.

Comparative effectiveness of third doses of mRNA-based COVID-19 vaccines in US veterans
BA Dickerman et al, Nat Microbiology, January 22, 2023

We emulated a target trial using electronic health records of US veterans who received a third dose of either BNT162b2 or mRNA-1273 vaccines between 20 October 2021 and 8 February 2022, during a period that included Delta- and Omicron-variant waves. The 16-week risks of COVID-19 outcomes were low after a third dose of mRNA-1273 or BNT162b2, although risks were lower with mRNA-1273 than with BNT162b2, particularly for documented infection.

Moderna COVID-19 Vaccine Safe and Effective for Children 6 Months to 5 Years.
Slomski Anita et al. JAMA 2022 12 (24) 2388

A trial found that two 25-µg doses of the mRNA-1273 (Moderna) vaccine were safe for children aged 6 months to 5 years and elicited immune responses consistent with those seen in older children, adolescents, and adults who had received higher doses of the vaccine. The ongoing phase 2-3 KidCOVE trial was conducted in 2 parts. After the part 1 dose-escalation phase, the investigators chose a 25-µg dose of vaccine for evaluation among children in 2 age cohorts: 2 to 5 years and 6 to 23 months. The 4048 children aged 2 to 5 years and 2355 children aged 6 to 23 months were randomly assigned to receive two 25-µg injections of mRNA-1273 or placebo administered 28 days apart.


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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