Roche scientist performing a DNA sequencing experiment. (Credit: Roche)

Infectious diseases cause 20% of all human deaths each year The narrow range of diagnostic options, and their often-invasive nature, makes it tough to bring this number down.

Sepsis accounts for a significant proportion of the reported fatalities, with several cases of sepsis-related mortality due to inappropriate, mismatched antimicrobial therapy. Sepsis can be triggered by an infection in any part of the body, and in extreme cases can lead to multiple organ failure. Collecting a tissue biopsy is not always a possibility, and repeated invasive procedures can cause severe discomfort to patients.

As reported earlier this week, Next Generation Sequencing (NGS) has the potential to drastically improve upon how pathogens are identified, by making use of non-invasive liquid biopsies and broad diagnostic power.

The use of NGS assays in infectious disease diagnosis has developed steadily over the past couple of years, but this case report from 2016 demonstrates the early promise of the technology. The NGS assay delivered a correct diagnosis within 24 hours. The case was actually the very first to report the use of whole-genome NGS to identify a pathogen in plasma, and the first to report its use in a septic critically ill patient. It demonstrates that NGS can significantly cut down time to diagnosis, to produce results in a clinically actionable timeframe, and improve antibiotic stewardship.