The following is a summary of “Evaluation of the diagnostic utility of metagenomic next-generation sequencing testing for pathogen identification in infected hosts: a retrospective cohort study,” published in the February 2024 issue of Infectious Diseases by Williams et al.

Metagenomic next-generation sequencing (mNGS) is a test that detects thousands of potential pathogens in a single blood test. However, its efficiency in real-world situations still needs to improve.

Researchers conducted a retrospective study to determine the diagnostic utility of NGS testing in practice and factors associated with high clinical utility. 

They included tests for patients who were highly suspected of having an infection. Certain patients who had passed away and were receiving hospice care or had been transferred from the institution were excluded from the study. Two investigators reviewed and categorized each test to either high or low diagnostic utility, and multiple regression methods were used to identify clinical factors associated with high diagnostic utility.

The result showed 80 tests from the 96 tests they received as eligible for analysis. Around 112 pathogens were identified, 74 bacteria, 25 viruses, 12 fungi and 1 protozoon. A minimum of one potential pathogen was identified in 58% of tests. In all, 46 tests showed high diagnostic utility. Positive mNGS tests were found in 36 (78.3%) high and 11 (32.4%) low utility tests (P< 0.001). Antimicrobial changes occurred in 31 (67.4%) of high-utility tests and 4 (11.8%) of low-utility tests (P<0.0001). In the regression model, a positive test [OR = 10.9; 95% CI, 3.2–44.4] and consultation with the company medical director (OR = 3.6; 95% CI, 1.1–13.7) remained significantly linked to high diagnostic utility.

Investigators concluded that mNGS testing resulted in high clinical utility in most cases, and positive mNGS tests were associated with high diagnostic utility. 

Source: journals.sagepub.com/doi/full/10.1177/20499361241232854