Targeted next-generation sequencing - a promising approach in the diagnosis of Mycobacterium tuberculosis and drug resistance.

Targeted next-generation sequencing (tNGS) offers a high-throughput, culture-independent approach that delivers a comprehensive resistance profile in a significantly shorter turn-around time, making it promising in enhancing tuberculosis (TB) diagnosis and informing treatment decisions. This study a...

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Published in:Infection Vol. 53; no. 3; pp. 967 - 980
Main Authors: Wu, Xiaocui, Tan, Guangkun, Sun, Chunlei, Wang, Yang, Yang, Jinghui, Wu, Chunqiu, Hu, Chaohui, Yu, Fangyou
Format: research tables/charts Journal Article
Published: Springer Nature Jun2025
Online Access:View this record in EBSCOhost
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        atl: Targeted next-generation sequencing - a promising approach in the diagnosis of Mycobacterium tuberculosis and drug resistance.
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          Wu, Xiaocui
          Tan, Guangkun
          Sun, Chunlei
          Wang, Yang
          Yang, Jinghui
          Wu, Chunqiu
          Hu, Chaohui
          Yu, Fangyou
        affil: https://ror.org/03rc6as71 Department of Clinical Laboratory, Shanghai Pulmonary Hospital, School of Medicine, Tongji University, Shanghai, China
      sug:
        subj:
          Sequence Analysis Methods
          Tuberculosis Diagnosis
          Drug Resistance, Microbial Evaluation
          Mutation Evaluation
          Phenotype
          Funding Source
          Human
          Academic Medical Centers
          Bronchoalveolar Lavage
          Microbial Culture and Sensitivity Tests
          Descriptive Statistics
          Tuberculosis, Pulmonary Diagnosis
          Genomics
          Bioinformatics
          Polymerase Chain Reaction
          Sensitivity and Specificity
          Confidence Intervals
          Predictive Value of Tests
          Data Analysis Software
          Amikacin
          Isoniazid
          Kanamycin
          Rifampin
          Ethambutol
          False Positive Results
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          Female
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      ab: Targeted next-generation sequencing (tNGS) offers a high-throughput, culture-independent approach that delivers a comprehensive resistance profile in a significantly shorter turn-around time, making it promising in enhancing tuberculosis (TB) diagnosis and informing treatment decisions. This study aims to evaluate the performance of tNGS in the TB diagnosis and drug resistance detection of Mycobacterium tuberculosis (MTB) using MTB clinical isolates and bronchoalveolar lavage fluid (BALF) samples. A total of 143 MTB clinical isolates were assessed, tNGS, phenotypic antimicrobial susceptibility testing (AST), and AST based on whole genome sequencing (WGS) exhibited high concordance rates, averaging 95.10% and 97.05%. Among 158 BALF samples, culture, Xpert MTB/RIF, and tNGS reported 29, 70 and 111 positives, respectively. In the confirmed cases with etiological evidence (smears, cultures, or molecular test), the positive rate of tNGS (73/83, 87.95%) was higher than that of Xpert MTB (67/83, 80.72%). Additionally, 45% (27/60) of clinically diagnosed cases (with imaging or immunological evidence) were positive for tNGS. Further validation on the discrepant results between tNGS and Xpert MTB/RIF with droplet digital PCR (ddPCR) yielded 35 positives, tNGS detected all, and Xpert MTB/RIF only identified 6 positives. In conclusion, tNGS demonstrates robust and rapid performance in the identification of MTB and its associated drug resistance, and can be directly applied to clinical samples, positioning it as a promising approach for laboratory testing of tuberculosis.
      pubtype: Academic Journal
      doctype:
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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