In this study we show that targeted RNA-seq can be used in routine clinical diagnostics and it delivers reproducible and clinically valid results

Next Generation DNA sequencing (NGS) is rapidly becoming an indispensable tool for genome-directed cancer diagnostics, but Next Generation RNA sequencing (RNA-seq) is currently not standardly used in clinical diagnostics for expression assessment. However, multi-gene RNA diagnostic assays are used increasingly in the routine diagnosis of early stage breast cancer. We show here that newly developed 70-gene and 80-gene RNA-seq tests deliver equivalent technical and clinical results to the reference standard microarray tests, they are highly reproducible when performed in different locations and they are stable over-time. Our data demonstrate that RNA-seq can be used as diagnostics platform, yielding results substantially equivalent to results derived from the predicate diagnostic device.