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Hot Topics of the Day|PHGKB
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02/03/2023

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

Multimodal deep learning of fundus abnormalities and traditional risk factors for cardiovascular risk prediction
YC Lee et al, NPJ Digital Medicine, February 2, 2023

We develop an artificial intelligence model to identify CVD using multimodal data, including clinical risk factors and fundus photographs from the Samsung Medical Center (SMC) for development and internal validation and from the UK Biobank for external validation. The multimodal model achieves an area under the receiver operating characteristic curve (AUROC) of 0.781 (95% confidence interval [CI] 0.766–0.798) in the SMC and 0.872 (95% CI 0.857–0.886) in the UK Biobank.

Passive monitoring by smart toilets for precision health.
T Jessie Ge et al. Science translational medicine 2023 2 (681) eabk3489

Precision health is an approach to prevent, diagnose, and monitor disease using information gleaned from an individual’s biological information. Passive monitoring in a smart home setting, where appliances and devices are connected and controlled automatically, may provide such biological information. Whereas wearable health sensors must be actively applied and require a certain amount of human intervention, a sensor that performs passively and noninvasively can collect valuable health data in the background of everyday life. Of the possible locations in a smart home, the bathroom, and more specifically the toilet, is particularly well suited for such passive sensors.

Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study
TS Hartwig et al, The Lancet, February 2, 2023

The cffDNA-based test had a sensitivity for aneuploidy detection of 85% (95% CI 79–90) and a specificity of 93% (95% CI 88–96) compared with direct sequencing of the pregnancy tissue. Among 1000 cffDNA-based test results, 446 (45%) were euploid, 405 (41%) aneuploid, 37 (4%) had multiple aneuploidies, and 112 (11%) were inconclusive. This validation of cffDNA-based testing in pregnancy loss shows the potential and feasibility of the method to distinguish euploid and aneuploid pregnancy loss for improved clinical management and benefit of future reproductive medicine and women's health research.

Defining genomic, transcriptomic, proteomic, epigenetic, and phenotypic biomarkers with prognostic capability in male breast cancer: a systematic review.
Subarnarekha Chatterji et al. The Lancet. Oncology 2023 2 (2) e74-e85

We identified knowledge gaps in the existing literature, discussed limitations of the included studies, and outlined potential approaches for translational biomarker discovery and validation in male breast cancer. We also recognized STC2, DDX3, and DACH1 as underexploited markers of male-specific prognostic value in breast cancer.

Global generalisability of AI-driven COVID-19 vaccination policies: a cross-sectional observational study
R Awasthi et al, MEDRXIV, February 2, 2023

We found 16 important predictors of vaccine uptake using the Bayesian network and Markov Blanket approach. We found that the trust of the central government (Log-Odds 0.55[0.25, 0.84] (p= 0.0002)), Vaccination restriction for national and international travel (Log-Odds 0.4[0.14, 0.65] (p= 0.0034)) as the key determinants of Vaccine uptake.

Immunogenicity of the BA.1 and BA.4/5 Bivalent Boosts: A Brief Report of Preliminary Results from the COVAIL Randomized Clinical Trial
AR Branche et al, MEDRXIV, February 3, 2023

Psychiatry pharmacogenomics: Africans are not at the table.
Frances Adiukwu et al. The lancet. Psychiatry 2023 1 (2) 80

Pharmacogenomic studies have the potential to change psychiatric practice, for example by advancing precision medicine in determining medication effectiveness and thereby reducing the need for trial and error. However, the African population is under-represented with regard to data and research participation in this field, with limited output, knowledge, and clinical applicability of pharmacogenomic evidence in Africa.

Epigenetic profile of Japanese supercentenarians: a cross-sectional study
S Komaki et al, The Lancet Healthy Longevity, February 2023

Epigenome-wide association analyses showed that centenarians and supercentenarians had younger-than-expected epigenetic states (DNA methylation profiles similar to those of non-centenarians) for 557 CpG sites enriched in cancer-related and neuropsychiatric-related genes, whereas these individuals had advanced (or older) epigenetic states for 163 CpG sites represented by genes related to TGF-ß signalling, which is involved in anti-inflammatory responses and known to contribute to healthy ageing.

An innovative framework to determine the implementation level of personalized medicine: A systematic review
LA Cobos et al, Front in Public Health, February 3, 2023

Personalized medicine (PM) is now the new frontier in patient care. The application of this new paradigm extends to various pathologies and different patient care phases, such as diagnosis and treatment. Translating biotechnological advances to clinical routine means adapting health services at all levels is necessary. This article aims to identify the elements for devising a framework that will allow the level of PM implementation in the country under study to be quantitatively and qualitatively assessed and that can be used as a guideline for future implementation plans.

Empowering underserved groups through access to electronic health records.
Aleena Hossain et al. BMJ (Clinical research ed.) 2023 1 247

Patients need support to ensure that access to electronic health records doesn’t create another digital divide. Giving patients access to their electronic health record (EHR) enhances their understanding of their care, empowering them to make informed decisions and better manage their own health, which can ultimately improve outcomes.


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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