在风湿病门诊中使用元基因组微生物血浆无细胞 DNA 下一代测序分析法

Rachel Jenkins, Matthew Samec, Courtney Arment, Kenneth J Warrington, John M Davis, Matthew J Koster
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引用次数: 0

摘要

目的评估元基因组微生物血浆无细胞 DNA 下一代测序测定(Karius TestTM;KT)在风湿病门诊患者评估中的实用性。方法回顾性地确定了自 2020 年 1 月 1 日至 2022 年 12 月 31 日期间在门诊由风湿病医生开具并获得 KT 的所有患者。摘录了人口统计学、临床、实验室、放射学、组织病理学和微生物学研究结果。对 KT 检测的适应症进行了分类。KT 结果的定义基于阳性结果和风湿病学检查时所调查症状的临床相关性。对 KT 三个月后的病例进行复查,以确定临床结果。结果 150 名患者接受了 KT(53% 为女性,平均年龄 52 岁)。进行 KT 的原因包括评估风湿病的不典型表现(80%)、评估接受免疫抑制治疗的患者病情发作与感染(16.7%)以及不明原因的发热(3.3%)。24项(16%)KT呈阳性,其中6项被认为与临床相关,并改变了最终诊断和治疗。在 126 例 KT 阴性病例中,有 5 例(4%)通过常规检测方法发现了与临床相关的感染。结论 在这项大型回顾性队列研究中,使用 KT 的最常见原因是风湿性疾病的非典型表现。25% 的 KT 阳性结果改变了最终诊断和治疗,而假阴性率为 4%。KT 在风湿病门诊评估中具有实用价值。至于哪些患者最适合进行 KT 检测,还有待进一步界定。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Use of Metagenomic Microbial Plasma Cell-Free DNA Next-Generation Sequencing Assay in Outpatient Rheumatology Practice
Objectives To assess the utility of a metagenomic microbial plasma cell-free DNA next-generation sequencing assay (Karius TestTM; KT) in the evaluation of patients in an outpatient rheumatology practice. Methods All patients with a KT ordered and obtained by a rheumatology provider in the outpatient setting from 1 January 2020 through 31 December 2022 were retrospectively identified. Demographic, clinical, laboratory, radiologic, histopathology, and microbial studies were abstracted. Indication for KT testing was categorized. KT results were defined based on positive result and clinical relevance regarding the symptoms under investigation at the time of the rheumatologic investigation. Review of cases three months after KT was undertaken to determine clinical outcome. Results 150 patients with a KT were included (53% female, mean age 52 years). The reason for KT was evaluation of atypical presentation of rheumatic disease (80%), assessing flare versus infection in patient on immunosuppression (16.7%), and fever of unknown origin (3.3%). 24 (16%) KTs were positive, 6 of which were considered clinically relevant and altered the final diagnosis and treatment. Of the 126 negative KTs, 5 (4%) were found to have a clinically relevant infection by conventional testing methodologies. Conclusions In this large retrospective cohort study, the most frequent reason for KT utilization was an atypical presentation of rheumatic disease. 25% of positive KTs altered the final diagnosis and treatment, whereas a false-negative rate of 4% was observed. KT has utility in the outpatient rheumatology assessment. Further delineation of which patients are best suited for KT testing remains to be defined.
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