Clinical metagenomics-challenges and future prospects

Maliha Batool1, Jessica Galloway-Peña1

  • 1Department of Veterinary Pathobiology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX, United States.

PubMed

Insights

Metagenomic next-generation sequencing (mNGS) offers a sensitive approach for diagnosing rare infections. However, challenges in sensitivity, cost, and standardization must be addressed for widespread clinical adoption.

Area of Science:

  • Infectious Diseases
  • Genomics
  • Clinical Diagnostics

Background:

  • Undiagnosed infections pose significant risks, leading to mortality and long-term health consequences.
  • Current diagnostic methods often fail to identify rare, novel, or complex causative pathogens.
  • A universal diagnostic strategy is crucial to reduce the burden of undocumented infections.

Purpose of the Study:

  • To review the efficacy and limitations of metagenomic next-generation sequencing (mNGS) in diagnosing severe infections.
  • To compare mNGS with conventional diagnostic methods.
  • To propose strategies for optimizing mNGS as a clinical diagnostic tool.

Main Methods:

  • Culture-independent analysis using metagenomic next-generation sequencing (mNGS).
  • Review of existing studies and case reports on mNGS in clinical diagnosis.
  • Examination of mNGS performance metrics including sensitivity, specificity, and cost-effectiveness.

Main Results:

  • mNGS demonstrates high sensitivity in detecting rare, novel, and unexpected pathogens without prior assumptions.
  • Studies confirm mNGS's effectiveness in improving clinical diagnosis for various infections.
  • Limitations include challenges in sensitivity, specificity, cost, bioinformatic pipeline standardization, and result interpretation.

Conclusions:

  • mNGS is a powerful tool for identifying the causes of undiagnosed infections.
  • Addressing current limitations is essential for integrating mNGS into routine clinical practice.
  • Further development is needed to maximize mNGS's potential in diagnosing severe infections.

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