Sequenom ($SQNM), facing a crowd of rivals in the prenatal diagnostics space, is heralding a massive amount of new postmarketing data as proof of accuracy and sensitivity for its signature test.
The San Diego company presented its clinical results from 185,000 samples at the 33rd National Society of Genetic Counselors Annual Education Conference in New Orleans, LA, held from Sept. 17 to 20. Sequenom noted that the results also continued to show that its noninvasive MaterniT21 Plus blood test offered the same level of precision as the comparable, and more invasive and older, diagnostic procedures. MateriT21 Plus uses a blood sample from the mother to screen for fetal chromosomal abnormalities.
Such a display of lab results long after a test achieves marketing approval is essentially marketing. But it also amounts to good strategy. Sequenom competes with Natera, Ariosa Diagnostics and Illumina ($ILMN) in the noninvasive prenatal testing market, where pricing competition is fierce and rivals don't hesitate to sue each other for patent infringement. Clinical results that help Sequenom affirm MaterniT21 Plus' utility on a larger scale help to reassure insurers and clinicians that the test remains worthy of use, and the results can also help generate new interest among clinicians not won over yet.
Sequenom certainly needs the boost. The company generated $120 million in revenue in 2013 but lost $107.4 million because of the cost of revenue and marketing expenses. Beyond postmarketing clinical data, Sequenom is also forging major partnerships to boost the market for MaterniT21 Plus. In June, Quest Diagnostics ($DGX) agreed to offer access to Sequenom's tests across its U.S. labs and also licensed some of Sequenom's patents regarding prenatal testing. Sequenom forged a similar deal early this year with the Mayo Clinic, which should help get MaterniT21 distributed globally.
For the New Orleans conference data, Sequenom conducted an analysis of 185,000 samples from patients at a high risk for fetal chromosomal abnormalities such as trisomy 21, 18 and 13. They found "stable positivity rates" mirroring similar results from large studies on high-risk populations using more invasive diagnostic testing. Specifically, they reported a 99.3% sensitivity for trisomy 21, 98.3% sensitivity for trisomy 18 and 97.4% sensitivity for trisomy 13. Specificity for all three trisomies surpassed 99.9%, the company said, similar to MaterniT21's original clinical validation studies.
MaterniT21 also scored high numbers as far as its positive and negative predictive value.
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| Dirk van den Boom |
As well, Sequenom presented positive results from more than 120,000 patient samples tested for clinically relevant microdeletions, not just for trisomies but also for other rare conditions such as DiGeorge syndrome and Prader-Willi/Angelman syndromes.
"The high accuracy of the test allows physicians and their patients to obtain important information not only for trisomies but also for these clinically relevant but much rarer conditions," Sequenom Chief Scientific and Strategy Officer Dirk van den Boom said in a statement.
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