ArticleInfection2024
Metagenomic next-generation sequencing as a diagnostic tool in the clinical routine of an infectious diseases department: a retrospective cohort study.
Article in Infection, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Masking recurrent contaminants in reference sequences improves specificity of clinical metagenomic sequencing.Journal of clinical microbiology · 2026Article
- Metagenomic next-generation sequencing improves diagnosis ofFrontiers in medicine · 2026Article
- Diagnostic value of metagenomic next-generation sequencing in deep neck space infections: a retrospective study of 32 patients.Frontiers in cellular and infection microbiology · 2026Observational
- Metagenomics next-generation sequencing of plasma combined with blood cells for improving the prognosis of early infection in patients with hematologic disorders: a real-world cohort study in northern China.Frontiers in molecular biosciences · 2026Article
- Next-Generation Sequencing for Infectious Disease Diagnostics in Pediatric Patients with Malignancies or After Hematopoietic Cell Transplantation: A Systematic Review.Journal of clinical medicine · 2025Review
- Article
- A comprehensive evaluation of plasma metagenomics sequencing for the diagnosis of suspected infection in pediatric patients with hematologic diseases.Frontiers in cellular and infection microbiology · 2025Article
- Getting Up to Speed: Rapid Pathogen and Antimicrobial Resistance Diagnostics in Sepsis.Microorganisms · 2024Review
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMetagenomic next-generation sequencing (mNGS) of circulating cell-free DNA from plasma is a hypothesis-independent broadband diagnostic method for identification of potential pathogens. So far, it has only been investigated in special risk populations (e.g. patients with neutropenic fever). PURPOSE: To investigate the extent to which mNGS (DISQVER® platform) can be used in routine clinical practice.
methodsWe collected whole blood specimens for mNGS testing, blood cultures (BC), and pathogen-specific PCR diagnostics. Clinical data and pathogen diagnostics were retrospectively reviewed by an infectious disease expert panel regarding the adjustment of anti-infective therapy.
resultsIn 55 selected patients (median age 53 years, 67% male) with heterogeneous diagnoses, a total of 66 different microorganisms and viruses were detected using mNGS (51% viruses, 38% bacteria, 8% fungi, 3% parasites). The overall positivity rate of mNGS was 53% (29/55). Fifty-two out of 66 (79%) potential pathogens detected by mNGS were found in patients with primary or secondary immunodeficiency. The concordance rates of BC and pathogen-specific PCR diagnostics with mNGS testing were 14% (4/28) and 36% (10/28), respectively (p < 0.001). An additional bacterial pathogen (Streptococcus agalactiae) could only be detected by BC. Therapeutic consequences regarding anti-infective therapy were drawn from 23 pathogens (35% of detections), with 18 of these detections occurring in patients with immunodeficiency.
conclusionsWe conclude that mNGS is a useful diagnostic tool, but should only be performed selectively in addition to routine diagnostics of infectious diseases. The limited number of patients and the retrospective study design do not allow any further conclusions.
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