Metagenomic next-generation sequencing in osteoarticular infections with a focus on pediatrics: current concepts and...

Area of Science:

• Infectious Disease Diagnostics
• Molecular Biology
• Genomics

Background:

• Osteoarticular infections (OAI) present significant morbidity and mortality challenges.
• Current diagnostic methods like cultures and serology often lack timeliness and accuracy.
• Genetic testing modalities offer novel approaches to OAI diagnosis.

Purpose of the Study:

• To review the capabilities and limitations of genetic testing in diagnosing osteoarticular infections.
• To compare traditional methods with emerging genetic techniques like PCR and metagenomic sequencing.
• To highlight the potential benefits and current challenges of advanced molecular diagnostics for OAI.

Main Methods:

• Review of existing literature on polymerase chain reaction (PCR) and metagenomic next-generation sequencing (mNGS) for OAI diagnosis.
• Analysis of PCR's implementation in pediatric OAI protocols and its documented effectiveness.
• Exploration of mNGS as an unbiased, hypothesis-free diagnostic tool for detecting diverse pathogens.

Main Results:

• PCR is increasingly used in pediatric OAI diagnostics, showing effectiveness for specific organisms but with limitations.
• Metagenomic next-generation sequencing offers broad pathogen detection (bacteria, viruses, fungi, parasites) from single samples.
• mNGS benefits include resistance to prior antimicrobial use and potential for polymicrobial infection delineation.

Conclusions:

• Genetic testing, particularly mNGS, holds significant potential for improving OAI diagnosis, offering advantages over traditional methods.
• Challenges remain regarding standardization, resource intensity, and defining the definitive clinical impact of mNGS.
• Further research is needed to establish optimal use and clinical utility of these advanced genetic diagnostic tools for osteoarticular infections.