游离DNA血浆下一代测序检测——物有所值吗？

A Cell-Free DNA Plasma Next-Generation Sequencing Test-Is It Worth the Cost?

作者信息

Jung Sean, Torriani Francesca, Abeles Shira, Kline Ahnika

机构信息

Department of Medicine, Division of Infectious Diseases and Global Public Health, University of California San Diego, La Jolla, CA 92093, USA.

Infection Prevention and Clinical Epidemiology and Antimicrobial Stewardship Programs, University of California San Diego Health, San Diego, CA 92103, USA.

出版信息

Pathogens. 2025 Aug 15;14(8):811. doi: 10.3390/pathogens14080811.

DOI:10.3390/pathogens14080811

PMID:40872321

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12389385/

Abstract

BACKGROUND

The Karius Test (KT), a microbial cell-free DNA next-generation sequencing assay, is increasingly utilized in challenging infectious syndromes. However, its real-world clinical utility and cost-effectiveness remain uncertain.

METHODS

We conducted a retrospective review of 88 KT results from adult patients at UC San Diego Health between July 2017 and April 2024. Each case was evaluated for clinical impact using standardized criteria. We analyzed diagnostic yield, turnaround time, number needed to test (NNT), and institutional billing data for reimbursement and cost implications.

RESULTS

Of 88 unique tests, forty-nine (55.7%) identified at least one pathogen. Eleven (12.5%) had a positive clinical impact-eight provided the only microbiologic diagnosis, and three were faster than conventional methods. Vascular/graft infections showed the highest yield. Twenty-one tests had a neutral impact; fifty-six showed no clinical benefit. The Median turnaround time was 3 days. The NNT was 6.1 or 2.75 including neutral cases. Cost analysis revealed a substantial financial burden without transparent reimbursement mechanisms in inpatient settings.

CONCLUSION

The KT demonstrates modest clinical utility with noteworthy benefits in select scenarios. Given its high cost and variable impact, we advocate for diagnostic stewardship led by infectious disease specialists to optimize test use and minimize unnecessary expense.

摘要

背景

卡里乌斯检测（KT）是一种微生物无细胞DNA下一代测序检测方法，在具有挑战性的感染综合征中越来越多地被使用。然而，其在现实世界中的临床实用性和成本效益仍不确定。

方法

我们对2017年7月至2024年4月期间加州大学圣地亚哥分校健康系统成年患者的88份KT检测结果进行了回顾性分析。使用标准化标准对每个病例的临床影响进行评估。我们分析了诊断率、周转时间、检测必要性数量（NNT）以及机构计费数据，以了解报销情况和成本影响。

结果

在88次独特检测中，49次（55.7%）检测出至少一种病原体。11次（12.5%）检测产生了积极的临床影响——8次提供了唯一的微生物学诊断，3次比传统方法更快。血管/移植感染的诊断率最高。21次检测产生了中性影响；56次检测未显示临床益处。中位周转时间为3天。NNT为6.1或2.75（包括中性病例）。成本分析显示，在住院环境中，由于报销机制不透明，存在巨大的经济负担。