Highlights
Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study
From the article: "Genetic information, if available, could improve T2D prediction among patients lacking measured clinical risk factors. Genome-wide association studies (GWAS) have identified hundreds of unique loci associated with T2D, the results of which can be used to calculate polygenic scores (PGS) that model genetic risk independently of established clinical risk factors including family history. Previous work has evaluated how PGS can be used within healthcare systems, but analyses have been largely cross-sectional in biobanks of mostly European ancestry, limiting the generalizability of results to a more ancestrally and medically diverse US healthcare system. "
Precision Medicine—Are We There Yet? A Narrative Review of Precision Medicine’s Applicability in Primary Care
W Evans et al, JPM, April 15, 2024
From the abstract: "Precision medicine (PM) has the potential to transform an individual’s health, moving from population-based disease prevention to more personalised management. There is however a tension between the two, with a real risk that this will exacerbate health inequalities and divert funds and attention from basic healthcare requirements leading to worse health outcomes for many. All areas of medicine should consider how this will affect their practice, with PM now strongly encouraged and supported by government initiatives and research funding. In this review, we discuss examples of PM in current practice and its emerging applications in primary care, such as clinical prediction tools that incorporate genomic markers and pharmacogenomic testing. "
Integration of pathologic characteristics, genetic risk and lifestyle exposure for colorectal cancer survival assessment
J Xin et al, Nature Comm, April 8, 2024
From the abstract: "The development of an effective survival prediction tool is key for reducing colorectal cancer mortality. Here, we apply a three-stage study to devise a polygenic prognostic score (PPS) for stratifying colorectal cancer overall survival. Leveraging two cohorts of 3703 patients, we first perform a genome-wide survival association analysis to develop eight candidate PPSs. Further using an independent cohort with 470 patients, we identify the 287 variants-derived PPS (i.e., PPS287) achieving an optimal prediction performance [hazard ratio (HR) per SD?=?1.99, P?=?1.76?×?10-8], accompanied by additional tests in two external cohorts, with HRs per SD of 1.90 (P?=?3.21?×?10-14; 543 patients) and 1.80 (P?=?1.11?×?10-9; 713 patients). Notably, the detrimental impact of pathologic characteristics and genetic risk could be attenuated by a healthy lifestyle, yielding a 7.62% improvement in the 5-year overall survival rate. "
Deep learning model for personalized prediction of positive MRSA culture using time-series electronic health records
M Nigau et al, Nature Comm, March 7, 2024
From the abstract: "Methicillin-resistant Staphylococcus aureus (MRSA) poses significant morbidity and mortality in hospitals. Rapid, accurate risk stratification of MRSA is crucial for optimizing antibiotic therapy. Our study introduced a deep learning model, PyTorch_EHR, which leverages electronic health record (EHR) time-series data, including wide-variety patient specific data, to predict MRSA culture positivity within two weeks. 8,164 MRSA and 22,393 non-MRSA patient events. "
