Molecular Diagnostics in Bloodstream Infections

Summary

Bloodstream infections are a major cause of morbidity and mortality worldwide. Rapid identification of causative pathogens and their resistance profiles is critical to improve patient outcomes and guide targeted antimicrobial therapy. Conventional blood culture remains the reference standard but is hindered by slow turnaround times and limited sensitivity, especially under antimicrobial treatment. Molecular diagnostics offer culture-independent methods that detect pathogen nucleic acids directly from blood, combining enhanced speed with broad pathogen coverage. Techniques such as multiplex PCR, droplet digital PCR (ddPCR), metagenomic next-generation sequencing and novel pre-amplification protocols have emerged to address low pathogen concentrations and background host DNA. Recent advances aim to refine sample preparation, assay sensitivity and specificity, and to integrate point-of-care formats for near-patient testing. Together, these developments promise to shorten time to diagnosis, increase detection rates and inform antimicrobial stewardship on a global scale.

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Molecular Diagnostics in Bloodstream Infections publication trend

The graph below shows the total number of articles in molecular diagnostics in bloodstream infections across all publications each year (not limited to Nature Index journals).

Technical terms

Molecular diagnostics: Techniques that detect pathogen nucleic acids directly from clinical specimens without prior culture.

Bloodstream infection (BSI): The presence of pathogenic organisms in the blood leading to systemic infection or sepsis.

Multiplex PCR: A polymerase chain reaction method that amplifies multiple target sequences in a single assay.

Droplet digital PCR (ddPCR): A highly sensitive nucleic acid quantification technique partitioning samples into thousands of droplets for individual amplification.

Pre-amplification: A preparatory amplification step that enriches low-abundance target sequences prior to detection.

Turnaround time: The interval between sample collection and delivery of diagnostic results.

Sensitivity and specificity: Measures of a diagnostic test’s ability to correctly detect true positives and true negatives, respectively.

References

  1. Rapid molecular assays versus blood culture for bloodstream infections: a systematic review and meta-analysis. EClinicalMedicine (2025).
  2. From Shadows to Spotlight: Enhancing Bacterial DNA Detection in Blood Samples through Cutting-Edge Molecular Pre-Amplification. Antibiotics (2024).
  3. Development and clinical validation of a dual ddPCR assay for detecting carbapenem-resistant Acinetobacter baumannii in bloodstream infections. Frontiers in Microbiology (2024).

About these summaries

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