Angeliki Melidou
Aristotle University of Thessaloniki, Greece
Title: Next Generation Sequencing unraveling the mystery of unknown disease associated pathogens in clinical specimens
Biography
Biography: Angeliki Melidou
Abstract
The impact of Next Generation Sequencing in microbiology has been revolutionary and it is increasingly being used as a diagnostic tool in the clinical field. In this review, we focus on the application of NGS in unraveling the mystery of unknown disease-associated pathogens in clinical specimens. Whole genome sequencing WGS allows the direct detection of known and unknown pathogens in DNA samples, while targeted next generation sequencing allows the identification of the microbial population in the human host. These genetic approaches will render the identification of viruses and bacteria in clinical specimens of undiagnosed patients, or of those patients that suffer from diseases of unknown etiology, as de novo WGS has opened a new era in the discovery of novel disease-causing pathogens. Although NGS has provided a great tool for infectious disease diagnostic testing, it still needs to adapt to the clinical environment: standardization and simplification of technical protocols, development of user friendly data analysis bioinformatics software, appropriate validation and quality control procedures, completeness and continuous update of reference genome databases; these are all necessary steps for the incorporation of NGS to the everyday clinical practice. It is important to understand both the great new opportunities and the limitations of this new technology.