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Next generation sequencing for pathogen detection in periprosthetic joint infections
Pier F Indelli1, Stefano Ghirardelli2, Bruno Violante2
1Department of Orthopaedic Surgery, Stanford University, Stanford, California, USA.
EFORT Open Reviews
|May 27, 2021
Summary
Next-generation sequencing (NGS) offers rapid diagnosis for periprosthetic joint infections (PJI), a severe complication of total joint arthroplasty (TJA). This technology, including metagenomic and cell-free DNA sequencing, shows promise for faster and more accurate PJI detection.
Area of Science:
- Orthopedic Surgery
- Infectious Diseases
- Molecular Diagnostics
Background:
- Periprosthetic joint infections (PJI) are severe complications following total joint arthroplasty (TJA).
- Current diagnostic methods for PJI lack standardization and can be challenging, particularly in culture-negative cases.
- There is a critical need for rapid and accurate diagnostic tools for PJI.
Purpose of the Study:
- To evaluate the potential of next-generation sequencing (NGS) technologies for the diagnosis of PJI.
- To explore the capabilities of metagenomic NGS (mNGS) and cell-free DNA (cfDNA) NGS in identifying pathogens and antimicrobial resistance in PJI cases.
- To assess the impact of these innovative technologies on the diagnostic paradigm of PJI.
Main Methods:
- Review of next-generation sequencing (NGS) applications in PJI diagnosis.
- Discussion of metagenomic NGS (mNGS) for universal pathogen detection and antimicrobial resistance characterization.
- Analysis of cell-free DNA (cfDNA) NGS for rapid microorganism isolation and resistance gene identification.
Main Results:
- NGS technologies can sequence microbial DNA from synovial fluid, proving useful in culture-negative PJI.
- mNGS provides universal pathogen detection within 24-48 hours and can characterize antimicrobial resistance.
- cfDNA NGS offers a fast, sensitive, and specific method for microorganism detection and resistance gene identification.
Conclusions:
- Metagenomics and cfDNA NGS represent promising technologies for the rapid diagnosis of PJI.
- These NGS methods significantly reduce the time required for bacterial detection compared to traditional methods.
- While revolutionary, further clinical evidence is necessary before widespread adoption of NGS for PJI diagnosis.

