scholarly journals Clinical standardization of metagenomic next generation sequencing (mNGS) in the pathogen diagnosis

2021 ◽  
Vol 1 (1) ◽  
Author(s):  
Mengjia Qian ◽  
Yanxia Zhan ◽  
Duojiao Wu ◽  
Lili Ji ◽  
Hao Chen ◽  
...  
2021 ◽  
Author(s):  
Bin-Fang Guo ◽  
Meng-Xiao Ding ◽  
Jing-Ru Xue ◽  
Dan-Ni Yan ◽  
Su-Zhen Sun

Abstract Background: Metagenomic next generation sequencing (mNGS) is becoming an increasingly available diagnostic method used to identify a broad range of pathogens. However, the optimal role of mNGS in clinical diagnostic schema remains uncertain, especially in pediatric patients suspected central nervous system (CNS) infection and treated with empirical antibiotic. The purpose of this study was to investigate the usefulness of cerebrospinal fluid (CSF) mNGS in the pediatric patients.Methods: We performed a retrospective review of suspected CNS infection patients who had CSF mNGS test from April 2019 to December 2020. Results and clinical impact of mNGS test were collected. We investigated the usefulness of CSF mNGS in clinical impact and diagnosis. Results: We enrolled 57 pediatric patients with empirical treatment. A total of 39 CNS infection patients were diagnosed, and 27 patients were identified by mNGS that only 2 of 27 were co-identified by CSF culture. In all of the patients, 75.4% (45 cases) had changed (addition or de-escalation) in antimicrobial therapy according to the results of the mNGS test. By each CSF mNGS test as a whole, the positive and negative percent agreement were 69.2% (95% CI: 54.1-84.4%) and 61.1% (95% CI: 36.2-86.1%), respectively, and true negatives of negative mNGS tests were 50% (95% CI: 27.3 – 72.7%).Conclusion: In this study, CSF mNGS test improved the diagnosis of neurologic infections and adjusted antibiotic therapy in the vast majority of cases. Consequently, for patients with empirical treatment, CSF mNGS should be used more in pathogen diagnosis and clinical therapy.


2020 ◽  
Vol 11 (05) ◽  
pp. 232-238
Author(s):  
Marcus Kleber

ZUSAMMENFASSUNGDas kolorektale Karzinom (KRK) ist einer der häufigsten malignen Tumoren in Deutschland. Einer frühzeitigen Diagnostik kommt große Bedeutung zu. Goldstandard ist hier die Koloskopie. Die aktuelle S3-Leitlinie Kolorektales Karzinom empfiehlt zum KRK-Screening den fäkalen okkulten Bluttest. Für das Monitoring von Patienten vor und nach Tumorresektion werden die Messung des Carcinoembryonalen Antigens (CEA) und der Mikrosatellitenstabilität empfohlen. Für die Auswahl der korrekten Chemotherapie scheint derzeit eine Überprüfung des Mutationsstatus, mindestens des KRAS-Gens und des BRAF-Gens, sinnvoll zu sein. Eine Reihe an neuartigen Tumormarkern befindet sich momentan in der Entwicklung, hat jedoch noch nicht die Reife für eine mögliche Anwendung in der Routinediagnostik erreicht. Den schnellsten Weg in die breite Anwendung können Next-Generation-Sequencing-basierte genetische Tests finden.


2016 ◽  
Vol 77 (S 01) ◽  
Author(s):  
Pankaj Agarwalla ◽  
Wenya Bi ◽  
William Gibson ◽  
Shakti Ramkissoon ◽  
Steven Schumacher ◽  
...  

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