Rapid innovation has had a dramatic impact on reducing the cost of DNA sequencing. This has enabled laboratories of all sizes across the developed world to have access to one of the most powerful diagnostic modalities in human history to aid in the treatment of some of our most challenging health conditions.
However, while we can all acknowledge that technological innovation with NGS has pushed the envelope towards producing more answers, operational excellence is now needed to ensure that we are producing the right answers, consistently and reproducibly. This means that a given NGS assay must produce the same answers from technologist to technologist, instrument to instrument, within the same laboratories, and across different laboratories. There are three primary reasons why operational excellence is still challenging for laboratories utilizing clinical NGS: the workflow complexity of NGS; a shortage of IVD assays and components; and a scarcity of support.