Journal of Clinical & Experimental Pathology
Open Access

Abstract

Next generation sequencing (NGS) is a powerful technology and can be used in areas of infectious diseases, genetic disorders, cancer and pharmacogenomics of clinical diagnostics. Due to the complexity of the technology and various scenarios of clinical diagnostics, test development requires special expertise. No matter what platform is used, depth of coverage of each sequencing fragment is the most important information for determining the sequencing quality, calculate variant frequency, estimate copy number variant and predict other structural variant. It is also an important quality control indicator. What to choose from sequencing techniques such as whole genome, whole exome and targeted panel is determined by the application. Bioinformatics plays a more important role in NGS tests than in other clinical tests which involves hardware and software need for storage, procession and communication of test data. NGS tests need to be validated and verified to comply with regulations. The tests need to be validated that meet the requirement of clinical diagnosis of pertained disease or disorder as well be verified that it will provide liable result. Validation and verification not only bench top procedures but also data analysis pipeline. Quality control measurement and material are also need to be established before start service and QC conducted periodically during service. Cost of routine clinical diagnostic operation need to be estimated carefully which should include costs of bioinformatics and data storage. Finally, NGS is powerful but not for everything.

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