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Sequenom to Embark on Clinical Validation Study for Trisomy 21 Test in January

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This story was originally published Dec. 23.

Sequenom plans to start a clinical validation study next month to evaluate the performance of its next-generation sequencing-based trisomy 21 test, called SensiGene T21, the company said this week.

The laboratory-developed test, which detects an overabundance of chromosome 21 in the mother's blood, was originally developed on the Illumina Genome Analyzer IIx. In September, Sequenom's Center for Molecular Medicine facility in San Diego completed a 450-sample R&D "locked assay" verification study, results of which are going to be published shortly in the American Journal of Obstetrics and Gynecology.

Since then, the lab, which received federal and state CLIA certificates in October, has conducted equivalency studies on the HiSeq 2000 sequencer. The results "met pre-specified requirements that now allow us to proceed confidently with the validation study" on the HiSeq 2000, said Sequenom CEO Harry Hixson in a statement. The clinical validation study "is an important step in confirming the trisomy 21 test performance in a large sample cohort," he added.

Sequenom CMM has already received the first set of clinical samples for the study and plans to start testing them during the first week of January.

In September, a company representative said that the study will be performed on samples collected by Sequenom and academic collaborators over the past two years for two academic studies: one aiming to gather about 80 trisomy 21 samples in a background of about 5,000 normal samples; the other aiming to collect about 200 trisomy 21 samples. At the time, the company also announced that it had decided to use the HiSeq system to develop the test commercially (IS 9/21/2010).

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