Next generation sequencing has always required very sophisticated assembly and bioinformatics, just to produce sequence sense out of the sequencing technology processes. Advanced software also goes far in predictive variant calls (for one example and citations, see Lai et al., 2016).
For December 2016, the journal Genome Medicine has published a special open access collection discussing the forefronts of precision cancer medicine (here). What struck me is that most of the articles feature an extremely bioinformatics-intensive component, such as predictive cellular modeling in silico. This goes far beyond sequencing 50, or 500 genes, and noting that the ALK mutation is associated with a clinical crizotinib response and the EGFR mutation with a clinical erlotinib response. Rather, the complexity of the genome is leveraged through analytics that a human couldn't see by reviewing a gene-drug table or by just digitizing it into a pathology report.
The new horizons may also create new policy and regulatory challenges. (Is a genomic test incorporating remotely leased or operated SAAS software still an "LDT" for the FDA? Is this "medical software" vended across state lines? How would you know if something went wrong? What does a career laboratorian CLIA inspector inspect? And to be viable over the long run, is the development and management of such software supposed to fit within a lab's falling fee schedule payments for genomics?)
The open access articles in the special collection are accessible at Genome Medicine, here. I've clipped abstracts of articles illustrating the informatics theme after the break.
Note: Although already somewhat dated at just one year old, my February 2016 white paper on "Digital Genomics" is still online here. Since then, multiple additional companies have come to my attention, such as Farsight (here) and innovative alliances have popped up, such as IBM Watson and Quest (here). I'll be chairing a panel on this topic at the NextGenDx conference in Washington in August 2017.
Selected articles in the Genome Medicine collection highlighted here. Publications dates span from October to December, 2016.