BOSTON, Mass. — Using comprehensive metagenomic next-generation sequencing earlier in the diagnostic process may reduce the number of tests performed and shorten the time to diagnosis for patients with meningitis and encephalitis, according to a new study published in Open Forum Infectious Diseases.
The study examined the potential clinical and operational impact of earlier use of metagenomic testing that detects both RNA and DNA pathogens within 48 hours, compared with conventional diagnostic workups. Researchers modeled outcomes at both patient and institutional levels, focusing on cases of infectious meningitis and encephalitis as well as autoimmune encephalitis.
According to the analysis, earlier use of metagenomic testing following an initial lumbar puncture could significantly reduce unnecessary testing, shorten hospital stays, and speed the start of targeted treatment. In patients with infectious meningitis or encephalitis, nearly 64 percent of microbiological tests could have been avoided, with the time to diagnosis shortened by nearly seven days per patient.
The impact was more pronounced among patients with autoimmune encephalitis, a condition that is often diagnosed only after extensive testing rules out infectious causes. In that cohort, the study found that up to 92 percent of microbiological tests could have been avoided, reducing time to diagnosis by more than 10 days per patient.
“The cause of as many as half of all cases of meningitis/encephalitis is never identified, and mNGS has emerged as an important tool in the clinical workup of these infections,” said Kiran Thakur, Herbert Irving associate professor of neurology, and director, program in neuroinfectious diseases, Department of Neurology at Columbia University Medical Center-New York Presbyterian Hospital. “This study shows our center could have eliminated hundreds of tests and reduced time to diagnosis for patients with either infectious or autoimmune encephalitis by using comprehensive mNGS testing earlier in the clinical workup. While promising, additional studies are needed to further quantify real-world impact of mNGS testing and develop implementation strategies for healthcare institutions.”
The study modeled the use of metagenomic testing after the first lumbar puncture and compared those scenarios with traditional stepwise testing approaches. Researchers found that earlier comprehensive testing could also reduce the number of repeat lumbar punctures performed during prolonged diagnostic evaluations.
“Getting an accurate diagnosis as soon as possible is critical for every patient, whether facing CNS infection or autoimmune disease. Earlier diagnoses are also important at the institutional level, reducing the burden of protracted clinical workups and hospital stays,” said Brad Murray, chief executive officer of Delve Bio.
Delve Bio’s metagenomic testing service, Delve Detect, was used as the basis for the modeling analysis. The service provides broad, unbiased pathogen detection with a next-day turnaround after sample receipt and includes access to a clinical sequencing board that assists clinicians with result interpretation.
The authors noted that while the findings suggest meaningful benefits from earlier metagenomic testing, further real-world studies will be needed to assess clinical outcomes, cost savings, and practical implementation within healthcare systems. (Source: IANS)
