Application of DNA- and RNA-based sequencing techniques to tumour tissue samples in the clinical laboratory

Abstract

Next-generation sequencing (NGS) technologies have become an indispensable tool within the research field driving genomic discoveries and furthering our understanding of the genomic changes that lead to human disease. NGS technologies have great potential to provide invaluable genomic data that can be used to improve clinical diagnosis and the delivery of precision medicine. Over the past decade NGS has translated into the clinical setting for both hereditary and somatic indications. Whilst it has great potential in the clinic, the application of this technology for cancer faces a number of challenges, both technical and logistic. Consideration must be given to the role of this technology and how it is best used in the patient pathway. In this review we describe the current technologies routinely used in the clinical laboratory and provide insights into their application in solid tumour testing.