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

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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Combined population genomic screening for three high-risk conditions in Australia: a modelling study
P Lacaze et al, e Clin Medicine, November 2023

From the abstract: "This modeling study assessed the impact of offering combined genomic screening for hereditary breast and ovarian cancer, Lynch syndrome and familial hypercholesterolaemia to all young adults in Australia, compared with the current practice of clinical criteria-based testing for each condition separately. Our findings suggest that offering combined genomic screening for high-risk conditions to young adults would be cost-effective in the Australian public healthcare system, at currently realistic testing costs. "

mRNA SARS-CoV-2 Vaccination Before vs During Pregnancy and Omicron Infection Among Infants.
Orlanda Goh et al. JAMA Netw Open 2023 11 (11) e2342475

From the abstract: "s maternal vaccination associated with a lower risk of infection with Omicron SARS-CoV-2 variants, including XBB, among infants up to 6 months of age? In this national population-based cohort study of 7292 infants aged 6 months or younger in Singapore, the estimated vaccine effectiveness in infants against Omicron SARS-CoV-2 variants, including XBB, from maternal messenger RNA (mRNA) SARS-COV-2 vaccination was 42%. A lower risk of infection was only found in infants when the vaccine was administered during pregnancy. "

Lipoprotein(a), platelet function and cardiovascular disease.
Harpreet S Bhatia et al. Nat Rev Cardiol 2023 11

From the abstract: " Lipoprotein(a) (Lp(a)) independently contributes to atherothrombosis through several mechanisms, including putative antifibrinolytic properties. However, genetic association studies and experimental studies have not demonstrated an association between high Lp(a) levels in the plasma and the risk of venous thromboembolism or clot properties, respectively."

The Future of Clinical Trials Artificial to Augmented to Applied Intelligence
AF Hernandez, JAMA, November 11, 2023

From the paper: "Artificial intelligence (AI) is already revolutionizing the conduct of science and the practice of medicine. From basic discovery to gaining insights about someone’s health through machine-eyes, new applications of AI are announced almost daily. AI is increasingly being used to enhance the practice of medicine with action ranging from augmenting human judgment to full task automation. The potential for AI to transform clinical research is also great, and the progress already observed in discovery science and applications to medicine are critically needed in the clinical research domain. "

Mendelian Randomization as a Tool for Cardiovascular Research: A Review.
Michael G Levin et al. JAMA Cardiol 2023 11

From the abstract: "Mendelian randomization (MR) is a statistical approach that has become increasingly popular in the field of cardiovascular disease research. It offers a way to infer potentially causal relationships between risk factors and outcomes using observational data, which is particularly important in cases where randomized clinical trials are not feasible or ethical. With the growing availability of large genetic data sets, MR has become a powerful and accessible tool for studying the risk factors for cardiovascular disease. "

Global trends in the increasing prevalence of the fosfomycin resistance genenin Staphylococcus aureus
DFM Monte et al, Lancet Microbe, November 2023

From the paper: " Our results revealed that 59?065 (55·7%) of 106?005 S aureus strains harboured the fosB gene. Our comprehensive genomic analysis of the global distribution of S aureus strains carrying fosfomycin resistance genes revealed their presence in 34 countries. This prevalence extends to several continents, highlighting the widespread nature of this resistance mechanism."

Rapid profiling of Plasmodium parasites from genome sequences to assist malaria control.
Jody E Phelan et al. Genome Med 2023 11 (1) 96

From the abstract: "Malaria continues to be a major threat to global public health. Whole genome sequencing (WGS) of the underlying Plasmodium parasites has provided insights into the genomic epidemiology of malaria. Genome sequencing is rapidly gaining traction as a diagnostic and surveillance tool for clinical settings, where the profiling of co-infections, identification of imported malaria parasites, and detection of drug resistance are crucial for infection control and disease elimination. To support this informatically, we have developed the Malaria-Profiler tool, which rapidly (within minutes) predicts Plasmodium species, geographical source, and resistance to antimalarial drugs directly from WGS data. "


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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