In its third in a series of industry reports on the sequencing landscape, equity research specialist Macquarie Capital focused on the dynamics and opportunities in the clinical space.
Included in the July 8, 2011 report:
- In as soon as three years, NGS testing could reach $3.6B in the U.S. (others have noted that MDx is the fasting growing segment of the $40B diagnostics market)
- Full-genome sequencing will eventually replace single mutation testing/analysis
- GenomeQuest was singled-out as a “technology leader” in informatics for analysis of tests — a critical area, it said, for commercial labs
- Full “democratizing” of sequencing will require the cost of whole-genome sequencing to fall to $100-200 per test.
Below are excerpts from the full Macquarie report, which is available by emailing dane.leone@macquarie.com.
Click here for the announcement of GQ-Dx — the molecular diagnostic decision support system from GenomeQuest highlighted in the report.
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“The detail is in the report but the quick answers are: 1) NGS diagnostic services will likely be supported by a coordinated care model that involves a primary clinician, genetic counsellor, technology team and a medical review board; 2) We estimate the refractory cancer patient testing market could be ~US$150m within the next three years but under a preventative care scenario, NGS testing could reach ~US$3.6bn in the United States; 3) Adoption of NGS diagnostics could likely erode the market for „single-marker‟ gene tests, create a significant opportunity for IT companies and will drive the development of new sequencing technologies.”
“Given the size and complexity of data that is generated by NGS, even for targeted or exome only studies, the analytical portion of the experiment has continued to be bottle-neck for commercial organizations (independent laboratories) to feasibly offer NGS based testing to clinicians. In our view, informatics companies are just beginning to tackle this complex issue and the technology leader in the space currently is a private company called GenomeQuest.”
“In our view, a conceptual future in which every human is sequenced prior to birth, after birth and on a regular basis throughout their lifetime, would require a new generation of “smart‟ sequencers. The criteria for a truly democratizing sequencing technology, in our view, would require 1) Sample preparation on par with the current generation clinical molecular diagnostic platforms; 2) Complete time to result of several hours; and the 3) Cost of a whole-genome analysis ~US$100 – 200.”
