مقالات پذیرفته شده در نهمین کنگره بین المللی زیست پزشکی
The Role of Metagenomic Next-Generation Sequencing (mNGS) in Infectious Disease Diagnosis
The Role of Metagenomic Next-Generation Sequencing (mNGS) in Infectious Disease Diagnosis
Saba Gholibeigi,1Sahel Salim Asadi,2Bita Behboodian,3,*
1. Department of Biology, Ma.C., Islamic Azad University, Mashhad, Iran 2. Department of Biology, Ma.C., Islamic Azad University, Mashhad, Iran 3. Department of Biology, Ma.C., Islamic Azad University, Mashhad, Iran
Introduction: According to recent studies, around 60 million deaths worldwide occur every year, of which 25 million are linked to infectious diseases. Infection occurs when pathogens breach the body’s defense barriers, colonize and multiply within the host’s body, and ultimately lead to an infectious disease. There are three strategies for infection control: preventing the source of infection, stopping the transmission of infection, and protecting those at risk. A crucial solution is to prevent further infection and protect the susceptible population by identifying and controlling the source of the infection. The exact cause of infection remains a major challenge, particularly for non-detectable organisms, which often fail even with the use of more recent tools such as PCR or serology. Molecular diagnostic methods like qPCR, dPCR, and sequencing have several challenges. They rely on complex instruments, which makes it hard to detect pathogens quickly in low-resource settings. In these methods, the extraction process can be time-consuming. With advances in molecular diagnostics, metagenomic next-generation sequencing (mNGS) has been developed to provide genomic DNA information of microorganisms. It allows an unbiased and detailed analysis of the total DNA or RNA of all known pathogenic microorganisms. mNGS is an advanced method that can directly detect various pathogens. mNGS is a useful method due to its high sensitivity and quick results. Given the great importance of the role of micro-organism detection by mNGS, this paper explores the application of this new technique for the detection of various infectious diseases.
Methods: We searched for mNGS-related articles published in PubMed, Google Scholar, and Scopus ScienceDirect. In total, 25 articles were reviewed and analyzed. We limited the search to studies published between 2019 and 2025 so we could include the most recent findings and developments in this area. We used specific keywords such as "metagenomic next-generation sequencing," "mNGS," "infectious disease diagnosis," "pathogen detection," and names of specific infections like tuberculosis, pneumonia, sepsis, and hematological diseases. We selected the articles based on how closely they were related to the topic, especially those that focused on using mNGS for diagnosing specific infectious diseases, rather than general discussions or reviews. Both original research and clinical studies were considered.
Results: Recently, the mNGS sensitivity for the detection of Mycobacteria tuberculosis in clinical samples has gained attention because of its short turnaround. In a study that compares mNGS with other methods. The results showed that mNGS had the highest sensitivity (78.95%), especially when it was combined with culture. Between June 2018 and July 2021, a study was conducted at Children’s Hospital of Fudan University on 77 children with severe pneumonia. The purpose of this research was to assess the effectiveness of mNGS for the diagnosis of Pneumocystis jirovecii pneumonia (PCP) in pediatric patients. The high sensitivity of this technique was also reported. A study was conducted at 19 cities in China from 2020 to 2021 on 859. Among them, 394 patients chose CMT, and 465 chose mNGS combined with CMT as the diagnostic method. In the mNGS group, pathogens were detected in 74% of patients compared to 41% with CMT. In February 2024, a systematic review article was published that studied the use of mNGS to diagnose infections in hematology patients. Researchers from the Department of Hematology at West China Hospital searched five databases up to August 2023, and the key results looked at pathogen detection rates, test accuracy, changes in antibiotics, and treatment success. Metagenomic sequencing is being used as a promising tool since it can identify a wide range of bacteria, fungi, and parasites in a shorter time. It also has the potential to discover new microorganisms. The time needed for this method can vary between 6 hours and 7 days, but on average, results are available in about 48 hours. The effectiveness of this technique depends on the type of sample used. For example, in blood samples, metagenomics has shown a sensitivity of around 90% and a specificity of about 86%. In this meta-analysis, mNGS was much better than traditional methods (CMT) at finding infections. This study shows that mNGS is more effective for identifying pathogens in different types of samples from hematology patients.
Conclusion: MNGS is a useful technique for diagnosing infectious diseases, detecting unknown pathogens, and identifying antibiotic resistance. It offers faster results compared to many traditional methods and makes it a valuable tool for improving the accuracy and speed of infectious disease diagnosis and treatment.