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With Clinical Validation Study Complete, Sequenom Moves Ahead with 2012 Launch of T21 Test

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By Monica Heger

This article was originally published May 5.

Sequenom has completed the clinical validation study for its noninvasive SensiGene Trisomy 21 test ahead of schedule, the company reported last week in a call with investors to discuss its first-quarter earnings.

Sequenom CEO Harry Hixson said that the study's investigators are currently in the process of preparing a manuscript for publication in a peer reviewed journal, after which the test will be commercially launched.

The study was initially expected to be completed in the second quarter, but the company has not accelerated its estimated launch of late 2011 or early 2012 because the next steps are "out of our control," Hixson said. Sequenom plans to market it initially as a laboratory-developed test and then file for clearance with the US Food and Drug Administration in late 2012 or early 2013 (CSN 3/16/2011).

Around 2,000 patient samples from the Women and Infants Hospital in Rhode Island were tested in the clinical validation study, 200 of which were positive for trisomy 21. The company did not disclose any details of the study's results or the test's performance.

As part of the study, some principal investigators also tested the sequencing-based methodology on trisomy 18 and trisomy 13, but Hixson declined to say whether those would be included in a commercial version of the test.

Ron Lindsay, the company's vice president of research and development, said that in the clinical validation study, the investigators employed a four-plex multiplexing strategy, which they plan to use for the commercial test.

With multiplexing, the sequencing reagent costs are around $200 per sample, Lindsay said. However, he added that the company is also in discussions with Illumina about reagent pricing, so $200 represents the "top-end" of a final price. Sequenom is developing the test for use on the HiSeq 2000 platform.

Recently, several other companies have announced their intention to develop sequencing-based prenatal trisomy 21 tests, including LifeCodexx and Verinata Health, both using similar technology (CSN 5/4/2011 and 4/19/2011). Verinata Health recently published the results of an initial validation study for its test.

During the call, Hixson said he believed the methodology described in Verinata's study violates US patent 6,258,540, held by Dennis Lo of the Chinese University of Hong Kong and licensed to Sequenom.

"It's our opinion that they are infringing the Lo '540 patent," Hixson said during the Q&A portion of the call. "We feel very confident about the strength of that patent. It's an issued patent in the US and in Europe, and we think it's very solid IP."

Hixson did not comment on LifeCodexx, which is also developing a sequencing-based trisomy 21 test, but has not yet published results of an initial validation study.

Also this month, Sequenom entered into several agreements with the Chinese University of Hong Kong, regarding technology it licensed from Lo for the development of its SensiGene Trisomy 21 test.

The agreements include royalty-bearing licenses for exclusive, worldwide (except Hong Kong) rights to intellectual property covered by patent applications owned by the University for prenatal diagnostics, prognostics, and analysis for research and commercial purposes.

The agreements cover IP related to fetal whole-genome sequencing and size-based genomic analysis of fetal nucleic acids.

As it nears the launch of its T21 test, Sequenom is continuing to develop and optimize its sample-prep strategy and automation efforts. Hixson declined to elaborate, noting that those portions of the test would likely "remain proprietary," and that the company will "not discuss them publicly."

Additionally, Sequenom has increased its headcount in preparation for the commercial launch, including hiring "clinical lab specialists, diagnostics marketing support, and field sales professionals," Hixson said.

Sequenom's total first-quarter revenue grew 27 percent to $13.5 million, compared to $10.6 million for the same quarter 2010. As of March 31, the company had total cash, cash equivalents, and investment securities of $125.3 million.


Have topics you'd like to see covered by Clinical Sequencing News? Contact the editor at mheger [at] genomeweb [.] com.

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