By Monica Heger
This story was originally published June 8.
Anticipating the launch of its sequencing-based trisomy-21 lab-developed test by 2012, Sequenom has begun the process of obtaining pre-market approval from the US Food and Drug Administration for an in vitro diagnostic version of the test, CEO Harry Hixson said last week at the Jefferies Global Healthcare meeting in New York.
Hixson said the company submitted a pre-investigational device exemption package in October, met with the agency in January, and is currently working to "define a clinical study that would be acceptable to the FDA." He expects to have the agreement finalized by the end of the year, after which the company would do a clinical trial and submit a PMA application by the end of 2012.
Hixson said the company has already begun collecting samples for a clinical trial to validate the IVD test, but expected that the FDA would require the company to collect additional samples from low-risk pregnancies.
The company has already completed a validation study of its test on the Illumina HiSeq in 2,000 high-risk pregnancies, which will serve as the basis for the LDT that it plans to launch upon publication of the study, either in the fourth quarter of this year or the first quarter of 2012 (CSN 5/10/2011).
In preparation for the launch of its test, the company is working with an outside consulting firm to develop a reimbursement and pricing strategy and is in the process of expanding its sales force.
Sequenom has not indicated an expected price for the test, but previously said that the sequencing reagent costs are around $200 per sample. However, Hixson said that the company hopes to "have a supply agreement in place with Illumina for instruments and consumable reagents in the next couple of months," which would enable the test to cost less than $200 per sample.
The company is aiming to have the capacity to offer 100,000 tests annually by the time it launches with a turnaround time of eight to 10 days.
While the initial LDT test will be launched through Sequenom's CLIA-certified Center for Molecular Medicine, Hixson said that the IVD test would be launched under the corporate Sequenom label.
The Center for Molecular Medicine will be "restricted exclusively to LDTs," he said.
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