Verinata Health, formerly Artemis Health, has published the results of an initial validation study of a sequencing-based prenatal test to identify multiple fetal chromosomal abnormalities, including trisomy 21 and trisomy 18.
The results of the study were published online today in the journal Clinical Chemistry, and the company is now in the process of completing a clinical validation study.
Verinata also announced that it has changed its name to reflect its focus on natal health. Additionally, it appointed Caren Mason to CEO and to its board of directors.
In its validation study, Verinata researchers used a sequencing method and proprietary algorithm based on technology licensed from Stephen Quake at Stanford University, to correctly identify all trisomy 21 and trisomy 18 cases.
"Our study provides preliminary evidence of the accuracy and reliability of massively parallel sequencing coupled with our proprietary, optimized algorithm, to detect multiple fetal chromosomal aneuploidies using a single maternal blood sample," Verinata's president and co-scientific founder Richard Rava said in a statement.
To perform its study, the researchers first collected blood samples from 1,014 patients at 13 US clinics from women scheduled to undergo an invasive prenatal procedure. Of those samples, 119 were chosen to undergo sequencing, 53 of which came from women with an abnormal karyotype.
The team then chose a "training set" of 71 samples, 26 of which had abnormal karyotypes, on which to optimize its algorithm. After validating its algorithm, it chose an "independent test set" of 48 samples, 27 of which had abnoromal karyotypes, and achieved 100 percent correct classification of the 13 trisomy 21 samples and the eight trisomy 18 samples.
"This testing method has the potential to detect any fetal chromosomal abnormality, including trisomies, monosomies, and small insertions and deletions," Rava added.
In the current study, the company used the Illumina Genome Analyzer and sequenced 36-base single-end reads. It did not elaborate whether it would use the GA for the development of its commercial test.
Other companies developing sequencing-based trisomy 21 tests, such as Sequenom and GATC subsidiary LifeCodexx, have said they will switch from the GA to the HiSeq 2000 for the commercial launch of their tests, due to the machine's ability to multiplex samples, which will help keep costs down (CSN 4/19/2011 and 3/16/2011). Sequenom and LifeCodexx both plan to launch their tests by the end of 2011 or early 2012.