Pathogen Detection in Infective Endocarditis Using Targeted Metagenomics on Whole Blood and Plasma: a Prospective...

Area of Science:

• Infectious Diseases
• Microbiology
• Genomics

Background:

• Infective endocarditis (IE) diagnosis traditionally relies on blood cultures and serology.
• Metagenomic sequencing on blood or plasma has shown preliminary potential for IE diagnosis.
• Early and accurate pathogen identification is crucial for effective IE management.

Purpose of the Study:

• To evaluate targeted metagenomic sequencing (tMGS) for early pathogen detection in IE patients.
• To assess the utility of tMGS in blood-based samples for IE diagnosis.
• To investigate tMGS performance in culture-negative endocarditis (BCNE) cases.

Main Methods:

• Prospective pilot study enrolling patients with possible or definite IE.
• Nucleic acid extraction from whole blood and plasma specimens.
• Targeted sequencing of the 16S ribosomal RNA gene V1-V3 region using Illumina MiSeq platform.

Main Results:

• 35 subjects were enrolled, with 28 definite and 7 possible IE cases.
• A positive tMGS result was obtained in 23 subjects (66%) when combining whole blood and plasma data.
• tMGS identified potential pathogens in 5 out of 6 culture-negative IE cases.

Conclusions:

• Blood-based tMGS may offer a valuable tool for pathogen identification in IE.
• tMGS demonstrates potential for diagnosing IE, particularly in culture-negative scenarios.
• Further research is warranted to validate and optimize tMGS for routine IE diagnostics.