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Review

Clinical diagnostic value of targeted next‑generation sequencing for infectious diseases (Review)

  • Authors:
    • Qiuyue Chen
    • Jie Yi
    • Yiwei Liu
    • Chenglin Yang
    • Yujie Sun
    • Juan Du
    • Yi Liu
    • Dejian Gu
    • Hao Liu
    • Yingchun Xu
    • Yu Chen
  • View Affiliations / Copyright

    Affiliations: Department of Laboratory Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100000, P.R. China, Emergency Department, The 305th Hospital of the People's Liberation Army of China, Beijing 100000, P.R. China, Department of Medicine, GenePlus‑Beijing, Beijing 100000, P.R. China
  • Article Number: 153
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    Published online on: July 2, 2024
       https://doi.org/10.3892/mmr.2024.13277
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Abstract

 As sequencing technology transitions from research to clinical settings, due to technological maturity and cost reductions, metagenomic next‑generation sequencing (mNGS) is increasingly used. This shift underscores the growing need for more cost‑effective and universally accessible sequencing assays to improve patient care and public health. Therefore, targeted NGS (tNGS) is gaining prominence. tNGS involves enrichment of target pathogens in patient samples based on multiplex PCR amplification or probe capture with excellent sensitivity. It is increasingly used in clinical diagnostics due to its practicality and efficiency. The present review compares the principles of different enrichment methods. The high positivity rate of tNGS in the detection of pathogens was found in respiratory samples with specific instances. tNGS maintains high sensitivity (70.8‑95.0%) in samples with low pathogen loads, including blood and cerebrospinal fluid. Furthermore, tNGS is effective in detecting drug‑resistant strains of Mycobacterium tuberculosis, allowing identification of resistance genes and guiding clinical treatment decisions, which is difficult to achieve with mNGS. In the present review, the application of tNGS in clinical settings and its current limitations are assessed. The continued development of tNGS has the potential to refine diagnostic accuracy and treatment efficacy and improving infectious disease management. However, further research to overcome technical challenges such as workflow time and cost is required.
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Copy and paste a formatted citation
Spandidos Publications style
Chen Q, Yi J, Liu Y, Yang C, Sun Y, Du J, Liu Y, Gu D, Liu H, Xu Y, Xu Y, et al: Clinical diagnostic value of targeted next‑generation sequencing for infectious diseases (Review). Mol Med Rep 30: 153, 2024.
APA
Chen, Q., Yi, J., Liu, Y., Yang, C., Sun, Y., Du, J. ... Chen, Y. (2024). Clinical diagnostic value of targeted next‑generation sequencing for infectious diseases (Review). Molecular Medicine Reports, 30, 153. https://doi.org/10.3892/mmr.2024.13277
MLA
Chen, Q., Yi, J., Liu, Y., Yang, C., Sun, Y., Du, J., Liu, Y., Gu, D., Liu, H., Xu, Y., Chen, Y."Clinical diagnostic value of targeted next‑generation sequencing for infectious diseases (Review)". Molecular Medicine Reports 30.3 (2024): 153.
Chicago
Chen, Q., Yi, J., Liu, Y., Yang, C., Sun, Y., Du, J., Liu, Y., Gu, D., Liu, H., Xu, Y., Chen, Y."Clinical diagnostic value of targeted next‑generation sequencing for infectious diseases (Review)". Molecular Medicine Reports 30, no. 3 (2024): 153. https://doi.org/10.3892/mmr.2024.13277
Copy and paste a formatted citation
x
Spandidos Publications style
Chen Q, Yi J, Liu Y, Yang C, Sun Y, Du J, Liu Y, Gu D, Liu H, Xu Y, Xu Y, et al: Clinical diagnostic value of targeted next‑generation sequencing for infectious diseases (Review). Mol Med Rep 30: 153, 2024.
APA
Chen, Q., Yi, J., Liu, Y., Yang, C., Sun, Y., Du, J. ... Chen, Y. (2024). Clinical diagnostic value of targeted next‑generation sequencing for infectious diseases (Review). Molecular Medicine Reports, 30, 153. https://doi.org/10.3892/mmr.2024.13277
MLA
Chen, Q., Yi, J., Liu, Y., Yang, C., Sun, Y., Du, J., Liu, Y., Gu, D., Liu, H., Xu, Y., Chen, Y."Clinical diagnostic value of targeted next‑generation sequencing for infectious diseases (Review)". Molecular Medicine Reports 30.3 (2024): 153.
Chicago
Chen, Q., Yi, J., Liu, Y., Yang, C., Sun, Y., Du, J., Liu, Y., Gu, D., Liu, H., Xu, Y., Chen, Y."Clinical diagnostic value of targeted next‑generation sequencing for infectious diseases (Review)". Molecular Medicine Reports 30, no. 3 (2024): 153. https://doi.org/10.3892/mmr.2024.13277
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