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Sequenom to Publish Validation Study for T13 and T18 Dx, Plans Improvements to Lower MaterniT21 Cost


By Monica Heger

This story, originally published Dec. 16, has been updated to include information about Sequenom's customers.

Two months after the launch of its non-invasive MaterniT21 test for Down syndrome, Sequenom said that a journal has accepted a study demonstrating the use of its sequencing-based approach for diagnosing trisomy 13 and 18.

Sequenom expects that the paper will be published in the first quarter of 2012.

Additionally, the company has made improvements to its sample-collection process that will allow blood to be collected from a doctor's office and shipped in ambient temperature, which will reduce production costs and should help drive uptake of the MaterniT21 test, company officials said at the Oppenheimer Healthcare conference in New York this week.

Other improvements it plans to make over the next year and a half should help reduce production costs, currently between $500 and $600, by 30 to 40 percent, Ron Lindsay, the company's executive vice president of research and development, said during the presentation, which was webcast.

Lindsay said that the study on trisomy 13 and trisomy 18 would be published in the first quarter of 2012 in Genetics in Medicine, the same journal where the company's large clinical validation study for trisomy 21 was published in October (CSN 10/19/2011).

During the trisomy 21 validation study, many of the samples that researchers collected ended up being positive for other aneuploidies, such as trisomy 13 and 18. However, Sequenom decided to publish those results separately.

Moving forward, Lindsay said that the company plans to publish additional studies on "even rarer" aneuploidies, but did not provide a timeline. These aneuploidies will be included in the MaterniT21 test and will not affect its cost.

The company bills insurance companies $2,700 for the test. Insured women have a $235 copay, while uninsured women pay $1,900.

One major improvement that the company is in the midst of implementing is in its sample-collection process. Currently, women must go to a processing site, separate from the doctor's office, where their blood is drawn, centrifuged, put on dry ice, and then shipped to Sequenom. Now, however, the company has new tubes that will allow for the samples to be shipped in ambient temperature. Not only will this reduce cost of goods by around $100 per test, said Lindsay, but it will also "make adoption easier," since women can simply have their blood drawn while at the doctor's office.

Lindsay said the company will start shipping the new tubes to doctors' offices very soon

Lindsay added that the company will make other improvements to the test over the next 18 months, primarily in automation of sample-prep steps that will reduce cost of goods by 30 percent to 40 percent, which would help "keep us ahead of any potential competition."

While Lindsay said it was still too early to predict revenues or sales volumes for the test, he outlined three scenarios — a low, modest, and high adoption rate ranging from 25,000 tests to 60,000 tests through 2012. The company currently has a capacity to run 100,000 tests per year.

The lower end takes into account the size of the company's sales force, plus a "relatively modest adoption rate of about 5 percent," said Lindsay.

Lindsay added that Sequenom plans to double its sales force in January to 40 people, which he said would be sufficient to meet the lower end of its test volume projections. Over the next couple of years, it may be necessary to increase the sales team to 80 in order to cover the 7,500 doctors that the company would like to target, he said.

As previously stated, the company plans to open a facility in North Carolina that will be "equipped and CLIA-certified by the end of 2012," which will increase its test capacity.

Lindsay said that the company will provide details on test adoption rates and revenues during its quarterly earnings calls.

Following the conference, the company announced that the Women & Infants Hospital of Rhode Island, Vanderbilt University Medical Center, and Florida Hospital in Orlando, are among early customers of MaterniT21.

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

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