The recent Macquarie report on clinical sequencing named our diagnostic decision support product, GQ-Dx, the technology leader in informatics and interpretation of clinical sequencing. In that report, they described a scenario where in as little as three years the clinical sequencing market could reach $3.6B. Believe it?
GQ-Dx is our response to an overflowing demand by the testing market to move from Sanger sequencing-based diagnostics to next-generation sequencing. Even as recently as one year ago, the medical community was outright reticent that this new technology was years away from clinical adoption. Today, we are aware of nearly 50 academic and commercial labs that employ next-generation sequencing directly. The first movers, like our customer the University of Iowa, recognized that gene panels could be screened rapidly using high-throughput sequencing, and then a more directed Sanger sequencing approach could dramatically lower costs and turn-around times.
The gene panel market in mid 2011 is small but growing quickly. And labs who sequence the same one or two genes for thousands of patients are also beginning to consider the use of massive multiplexing to pool many patient samples for high-throughput screening followed by confirmatory Sanger.
Of course to reach $3.6B the market needs to move from panels to exomes to genomes. Already we’re in discussions with the heads of labs who see gene panels as an unnecessary step, and are moving to validate whole-exome diagnostic panels with software probes for specific variations that drive clinical action. And the dreaded incidentalomas that paralyzed the medical community even six months ago seem more manageable by some: they’ll be classified by protein and pathway impact, and assessed by qualified pathologists and clinical geneticists. Reporting of the potential impact of such incidental findings will be done based on prior informed consent between doctor, patient, and family, and will depend on a variety of factors from age to severity of disease.
Perhaps the government will slow down the pace, but until then (and hopefully thereafter), individual medical institutions are innovating, and patients are benefiting, and the clinical sequencing market is growing.
