Setting up next-generation sequencing in the medical laboratory

Abstract

The introduction of next-generation sequencing (NGS) technologies in research has proven to be very successful in the past 8 years. Now, there is considerable demand to apply these technologies for clinical diagnosis. The translation of research-to-clinical practice brings with it a unique set of challenges, particularly when it comes to setting up NGS in the medical laboratory. The practical issues related to infrastructure, selecting which NGS platform, and dealing with informatics requirements are discussed. Application of NGS for clinical diagnosis requires robust quality assurance at multiple levels including sample assessment, library preparation, template generation, and sequencing data which need to be generated, analyzed, and stored. The requirements for data generation, analysis, and storage are considerable.