Work

Whole blood metagenomic next-generation sequencing in the diagnosis of bloodstream infection in patients with hematologic diseases

Year: 2026

Type: article

Abstract: OBJECTIVES: This study aimed to evaluate the value of cell-free DNA (cfDNA) in plasma and genomic DNA (gDNA) in nucleated cell layer of whole blood samples detected by metagenomic next-generation sequencing (mNGS) in the diagnosis of bloodstream infection in patients with hematologic diseases. METHODS: Whole blood samples collected from hematologic patients with suspected bloodstream infections were divided into the plasma and nucleated cell layers. The DNA of plasma and nucleated cell layers was extracted for mNGS. The pathogenic results were compared between whole blood (plasma plus nucleated cell layers) and plasma layer. In addition, the factors influencing the prognosis at discharge were analyzed. RESULTS: In total, 92 patients were included. The positive rate of mNGS in whole blood was higher than those of the single plasma layer (58.70% vs 53.26%) and the culture layer (58.70% vs 17.39%). The consistency of plasma and nucleated cell layers was 57.6%. The proportion of fungi detected in nucleated cell layer was higher than that in plasma layer (30.2% vs 17.0%). A total of 10 patients had extra pathogens detected in whole blood compared with the single plasma layer, and the positive rate of mNGS increased by 10.87%. gDNA microbe reads and non-host ratios in the extra-detection group were significantly higher than those in the non-extra-detection group. cfDNA microbe reads, non-host ratios, and microbe percentage showed no significant differences between the two groups. The maximum Sequential Organ Failure Assessment (SOFA) score and age in the death group were significantly higher, whereas cfDNA/gDNA species richness was significantly lower compared with the survival group. The maximum SOFA score and cfDNA Shannon diversity index were found as risk factors for improved prognosis. The maximum SOFA score and cfDNA concentration were combined for the diagnosis of poor prognosis at discharge, with the highest area under the curve at 0.95. CONCLUSIONS: Simultaneous metagenomic sequencing of plasma layer and nucleated cell layer contributes to the detection of pathogens in patients with bloodstream infections. cfDNA detection has a certain significance in predicting the prognosis of patients with bloodstream infections.

Source: International Journal of Infectious Diseases

DOI: 10.1016/j.ijid.2026.108375

Authors: Xinhao Chai, Xing Zhang, Dongsheng Chen, Dongwen Rong

Institutions: Shanxi Medical University, First Hospital of Shanxi Medical University, Simcere Pharmaceutical (China)

Language: English

Topic: Bacterial Identification and Susceptibility Testing

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,900