Syndromic Approaches for Diagnosis of Infectious Diseases

Until now, quantitative real-time PCR has been considered to be the gold standard for molecular diagnosis of infectious diseases. Although many laboratories rely on singleplex or multiplex panels targeting only a small number of pathogens to maintain assay sensitivity, recent technological advancements have led to large multiplex panels being used for molecular diagnostic purposes to detect infectious agents in clinical samples. In addition, more advanced techniques such as shotgun metagenomics are being used by specialized laboratories allowing to detect pathogens that are less likely to be associated with particular diseases or specimen types. Due to these innovative techniques, there is a shift from a targeted to a syndromic approach for the molecular detection of pathogens in clinical samples.

Syndromic approaches for the diagnosis of infectious diseases are based on a collection of symptoms to detect the corresponding etiologic agents. This can be achieved by molecular methods such as multiplex quantitative real-time PCR panels or (shotgun) metagenomic sequencing. Well known examples are multiplex PCR panels that target pathogens causing respiratory illness, gastro-enteritis or meningitis. In this research topic we aim to evaluate the clinical performance of these syndromic approaches, determine their cost-effectiveness and applicability in a clinical setting.

As syndromic approaches can serve as a powerful tool for the diagnosis of infectious diseases, potential authors interested in submitting a manuscript to this research topic could cover a range of topics, including:

1. Clinical performance of syndromic molecular diagnostic approaches to detect pathogens
2. Innovative syndromic molecular diagnostic approaches: novel multiplex PCR technologies, Next-generation sequencing methods (targeted metagenomics knowns as tNGS and metagenomics known as mNGS) and bioinformatic analyses
3. Evaluation of the cost-effectiveness of syndromic approaches vs routine methods
4. Challenges and limitations of syndromic approaches for molecular diagnosis of infections
5. Novel biomarker identification using AI and large-scale cohort studies that will assist syndromic molecular diagnosis (Please Note: Retrospective studies alone without biological validation are not accepted.)

Finally, potential authors should put the current state of syndromic molecular assays in perspective with regard to conventional methods and discuss the role this approach may fulfil in the future of molecular diagnostics.

Topic Editor Dr. Qing Wei is employed at Shanghai Cinopath Medical Laboratory Co. and Kindstar Globalgene Technology Inc., Topic Editor Prof. Yong Tao has two domestic patents assigned to the Beijing Chaoyang Hospital and is stock equity holder of Beijing GiantMed Diagnostic Corp. The other Topic Editors declare no competing interests with regard to the Research Topic subject.

Keywords: pathogen detection, next-generation sequencing, syndromic diagnosis, multiplex PCR, metagenomic sequencing, molecular diagnostics, clinical performance

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.