Diagnostic value of plasma cell-free DNA metagenomic next-generation sequencing in patients with suspected infections - a retrospective study from a single center

Sep 30, 2026

Uploaded by Aditya

Plasma cell-free DNA metagenomic next-generation sequencing (mNGS) is a non-invasive approach for etiological diagnosis of infectious diseases, yet its early diagnostic value and real-world clinical impact remain underexplored. A retrospective cohort of 140 patients with suspected infections compared early plasma mNGS with conventional culture and evaluated diagnostic scenarios and clinical effects. Plasma mNGS showed higher positivity than culture and blood culture, with improved sensitivity, and benefit to 54.33% of patients, particularly in multi-site co-infections and blood infections.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages12

Reading Time30 min

AccessFree to download

Abstract

Background

Materials and Methods

Results

Conclusion

Introduction

Clinical need for rapid pathogen identification

Limitations of conventional diagnostic methods

Rationale for plasma cfDNA mNGS

AnnAls of Medicine 2026, Vol. 58, no. 1, 2608531 [https://doi.org/10.1080/07853890.2025.2608531](https://doi.org/10.1080/07853890.2025.2608531) RESEARCH ARTICLE Diagnostic value of plasma cell-free DNA metagenomic next-generation sequencing in patients with suspected infections and exploration of clinical scenarios—a retrospective study from a single center Shuhong Suna, Zhen Ninga, Hongyan Xua, Shanxin Pengb, Chunhai Gaoa and Xiaofeng Hua adepartment of laboratory Medicine, shandong Provincial linyi Peoples’ Hospital, shandong Provincial Key Medical and Health laboratory, shandong Provincial linyi Municipal Key laboratory for laboratory Medicine, linyi, shandong, chinabdepartment of Hospital infection Management, shandong Provincial linyi Peoples’ Hospital, shandong Provincial Key Medical and Health laboratory, shandong Provincial linyi Municipal Key laboratory for laboratory Medicine, linyi, shandong, china ABSTRACT Background: Plasma cell-free DNA metagenomic next-generation sequencing (mNGS) is a non-invasive comprehensive method for the etiological diagnosis of various infectious diseases. However, research on the early diagnosis and real-world clinical impact of plasma mNGS in patients with suspected infection are still limited. Materials and Methods: This study retrospectively included 140 patients with suspected infections who underwent early plasma mNGS and conventional culture testing. Referring to the clinical diagnosis of infectious diseases, the diagnostic performance of plasma mNGS and culture tests was compared, and the application scenarios and clinical effects of plasma mNGS were evaluated. Results: The positive rate of plasma mNGS was significantly higher than that of culture methods (55.71% vs 25.10%, p < 0.001) and blood cultures (55.71% vs 12.86%, p < 0.001). Regarding clinical diagnosis, the sensitivity of plasma mNGS was significantly higher than that of culture (58.27% vs 37.80%, p = 0.002). The combination of mNGS and culture achieved a higher detection sensitivity (69.29%), especially in patients with multi-site co-infections (73.68%) and blood infections (73. 17%). Plasma mNGS demonstrated higher sensitivity in patients with procalcitonin (PCT) index > 5 ng/ml or human neutrophil lipocalin (HNL) index > 200 ng/ml. In terms of treatment, a total of 69 patients (54.33%) benefited from plasma mNGS. Conclusion: This study highlights the significant improvement in pathogen detection performance by combining conventional culture with plasma mNGS detection, especially in patients with multi-site co-infections and blood infections. Early use of plasma mNGSas an adjunct to culture can better guide clinicians to initiate appropriate anti-infective therapy. Introduction ARTICLE HISTORY Received 28 August 2025 Accepted 18 December 2025 KEYWORDS Plasma cell-free DNA; metagenomic next-generation sequencing; infectious diseases; clinical impact Infectious diseases are the leading cause of morbidity and mortality worldwide and present a rising threat to public safety [1,2] . Timely and accurate identification of the cause of infection is essential for targeted therapy [3] . Despite the increasing sensitivity of detection techniques, pathogen identification of infectious diseases remains a critical issue for clinicians [4] . At present, clinical laboratory departments usually detect pathogens through smear microscopy, culture, serological tests, pathological examinations, and nucleic acid amplification tests, however, the sensitivity and detection ability of these methods have limitations [5] . Conventional microbial cultures and CONTACT chunhai Gao [13853996188@126.com](13853996188@126.com); Xiaofeng Hu hongshuangel@163.com department of laboratory Medicine, shandong Provincial linyi Peoples’ Hospital, shandong Provincial Key Medical and Health laboratory, shandong Provincial linyi Municipal Key laboratory for laboratory Medicine, linyi, shandong, china © 2026 The Au

FAQs

What diagnostic problem does the study address?

The study addresses the need for timely, accurate etiological diagnosis in patients with suspected infections, where conventional culture and related tests have limited sensitivity or fail to detect certain pathogens.

How was plasma mNGS evaluated in this research?

Researchers retrospectively included 140 suspected infection patients who underwent early plasma mNGS and conventional culture testing, then compared diagnostic performance and assessed application scenarios and clinical effects.

What were the main diagnostic performance findings?

Plasma mNGS had a significantly higher positive rate than culture and blood cultures, and it showed higher sensitivity in clinical diagnosis. Combining mNGS with culture further increased detection sensitivity.

Who benefited most from plasma mNGS for treatment guidance?

A total of 69 patients benefited. The report highlights improved detection and value especially in multi-site co-infections and blood infections, supporting earlier and more appropriate anti-infective therapy.

Sep 30, 2026

Uploaded by Aditya