Bringing Next-Generation Sequencing Oncology Tests into the Diagnostic Setting

Abstract

Since the completion of the Human Genome Project (HGP) in 2003 and the appearance of the first next-generation sequencer (i.e. Roche 454 GS20) on the market, it has been widely anticipated that the rate of genomic discovery would increase exponentially. Genomic discovery in the context of human genetics encompasses the identification of new variants or mutations underlying human disease, from rare Mendelian disorders to common complex diseases including cancer, and pharmacogenomics for drug responses. It has been envisaged that these ‘disruptive technologies’ will eventually be translated into the diagnostic setting. Thus, the term ‘genomic medicine’ has been widely used to describe this rapidly evolving field i.e. applying genomic information in the context of furthering the clinical care of patients. Pharmacogenomics is that branch of genomic medicine that specializes in applying genomic information in the context of therapeutic decision-making.