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
Applications of Liquid Biopsy for Surgical Patients With Cancer: A Review.
Kelly M Mahuron et al. JAMA Surg 2023 11
From the abstract: "Liquid biopsy analytes such as circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) have been the most clinically studied assays and were initially limited to advanced-stage disease. In the metastatic setting, CTCs and ctDNA levels are prognostic. Although their levels correlate with treatment response, CTC-guided systemic regimen switches for nonresponders have not been shown to improve clinical outcomes. ctDNA genomic profiling has succeeded, and there are now multiple plasma-based assays approved by the US Food and Drug Administration that can detect actionable mutations to guide systemic therapy. "
Can Predictive AI Improve Early Detection of Sepsis and Other Conditions?
R Volker et al, JAMA, November 1, 2023
From the article: "AI and medicine intersect on a rapidly changing terrain where the possibilities are tremendous—tools that aid in the early detection of sepsis, for example, or help streamline transitions of care. AI is also ready for development in preventing pressure ulcers. In some areas of health care, AI may be ready for prime time, but in others, more research is needed to adapt these tools for real-world clinical use. "
NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders
K chan et al, IJNS, October 30, 2023
From the abstract: "Here, we describe web-based tools and resources developed and implemented by the newborn screening translational research network (NBSTRN) to advance newborn screening research and support NBS stakeholders worldwide. The NBSTRN’s tools include the Longitudinal Pediatric Data Resource (LPDR), the NBS Condition Resource (NBS-CR), the NBS Virtual Repository (NBS-VR), and the Ethical, Legal, and Social Issues (ELSI) Advantage. Research programs, including the Inborn Errors of Metabolism Information System (IBEM-IS), BabySeq, EarlyCheck, and Family Narratives Use Cases, have utilized NBSTRN’s tools and, in turn, contributed research data to further expand and refine these resources. "
Inferring bacterial transmission dynamics using deep sequencing genomic surveillance data.
Madikay Senghore et al. Nat Commun 2023 11 (1) 6397
From the abstract: "In this work, we assess the utility of deep-sequenced genomic surveillance (where genomic regions are sequenced hundreds to thousands of times) using a mouse transmission model involving controlled spread of the pathogenic bacterium Citrobacter rodentium from infected to naïve female animals. We observe that within-host single nucleotide variants (iSNVs) are maintained over multiple transmission steps and present a model for inferring the likelihood that a given pair of sequenced samples are linked by transmission. "