Molecular diagnostic technology: beyond analytical accuracy

Abstract

Infectious diseases cause high morbidity and mortality, and early, effective antimicrobial therapy improves outcomes. However, conventional microbiology methods like culture are slow and insensitive. Emerging molecular diagnostics—such as multiplex PCR (mPCR), droplet digital PCR (ddPCR), and metagenomic next-generation sequencing (mNGS)—offer rapid, accurate pathogen identification. Challenges persist in result interpretation (e.g., setting positivity thresholds, low positive predictive value) and clinician trust. While molecular diagnostics excel in sensitivity, their real-world impact on specificity and patient prognosis - clinical accuracy -remains limited. Key hurdles include patient selection, timing, result interpretation, and pathogen relevance. Addressing these gaps is critical for standardizing these technologies and maximizing their clinical benefit.