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微生物无细胞 DNA 测序在真实环境中的诊断和临床效用。

The diagnostic and clinical utility of microbial cell-free DNA sequencing in a real-world setting.

机构信息

Division of Infectious Diseases, Brigham and Women's Hospital, Boston, MA, USA; Division of Infectious Diseases and Geographic Medicine and Department of Anatomic and Clinical Pathology, Tufts University School of Medicine, Boston, MA, USA.

Department of Laboratory Medicine, Lahey Hospital and Medical Center, Burlington, MA, USA.

出版信息

Diagn Microbiol Infect Dis. 2023 Oct;107(2):116004. doi: 10.1016/j.diagmicrobio.2023.116004. Epub 2023 Jun 15.

DOI:10.1016/j.diagmicrobio.2023.116004
PMID:37467522
Abstract

Microbial cell free DNA sequencing is increasingly used for diagnosis of infection but few studies describe its utility in real-world settings. We performed a single-center retrospective case series of microbial cell free DNA testing using the Karius assay from 29 patient samples to define the clinical reasoning and the impact of testing. Indications fell into 3 categories, identifying a causative pathogen in patients with an infectious syndrome and negative microbiologic workup (15/29, 52%), seeking another pathogen when organisms identified by traditional diagnostics failed to explain the clinical presentation (9/29, 31%) and to "rule out" infection in patients with nonspecific symptoms and negative microbiologic workup (5/29, 17%). Clinical impact was positive in 13/29 (45%) and all were for patients with high pretest probability for infection. Impact was negative in 3/29 (10%) cases. There was no impact in 15/29 (52%) cases. Further work is needed to define the optimal timing accounting for test performance, and patient characteristics.

摘要

微生物无细胞游离 DNA 测序越来越多地用于感染的诊断,但很少有研究描述其在实际环境中的效用。我们对 29 例患者样本进行了单次中心回顾性病例系列微生物无细胞游离 DNA 检测,以确定检测的临床推理和影响。适应证分为 3 类,在感染综合征和微生物学检查阴性的患者中确定病原体(15/29,52%),在传统诊断方法确定的病原体无法解释临床表现时寻找另一种病原体(9/29,31%),以及在无特异性症状和微生物学检查阴性的患者中“排除”感染(5/29,17%)。29 例患者中有 13 例(45%)的临床影响为阳性,所有阳性患者的感染可能性均较高。29 例中有 3 例(10%)的影响为阴性。29 例中有 15 例(52%)无影响。需要进一步研究以确定最佳时机,同时考虑测试性能和患者特征。

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