Illumina, Inc. (NASDAQ: ILMN) today announced that Verinata Health, an Illumina company, has published the first peer-reviewed study of non-invasive prenatal test (NIPT) performance in a clinical laboratory setting. Data collected from the first nine months of commercial availability confirmed that Verinata's verifi® prenatal test was in line with its published clinical validation study published in the May 2012 issue of Obstetrics & Gynecology, the official journal of the American College of Obstetricians and Gynecologists. The verifi® prenatal test analyzes DNA found in a pregnant woman's blood to detect the most common chromosome abnormalities in the fetus.
“We are committed to providing customers with the best test performance in the industry with regard to accuracy, rate of test failures, and turnaround time.”
"Professional societies have encouraged NIPT test providers to publish unbiased commercial performance data in a peer-reviewed journal. This publication demonstrates our commitment to transparency and continuous improvement in the quality and monitoring of our verifi® test in the high risk market," said Dr. Jeffrey Bird, General Manager of Verinata Health. "We are committed to providing customers with the best test performance in the industry with regard to accuracy, rate of test failures, and turnaround time."
Test Results in a Clinical Laboratory Setting
In the study published online today and forthcoming in the June issue of Prenatal Diagnosis, Verinata Health tested 5,974 maternal blood samples. Physicians received results of the verifi® test within an average of 5.1 business days, substantially faster than the industry standard. The test failure rate was 0.7%, the lowest published test failure rate in the industry. A low test failure rate reduces additional blood draws and test result delays.
Of the samples tested, the verifi® test detected aneuploidy in 284 (4.8%) samples, a percentage consistent with the overall aneuploidy detection rate in the high-risk pregnant population. Specifically, the verifi® test detected trisomy 21 (Down syndrome) in 155 (2.6%) samples, trisomy 18 (Edwards syndrome) in 66 (1.1%) samples, trisomy 13 (Patau syndrome) in 19 (0.3%) samples, monosomy X (Turner syndrome) in 40 (0.7%) samples with cystic hygroma, and four cases of double aneuploidy. Follow-up data were available for 245 (86%) samples. For all results where aneuploidy is detected through a verifi® test, Verinata Health recommends follow-up with a diagnostic procedure (amniocentesis or chorionic villus sampling).
Five (0.08%) false negative cases were reported (two cases of trisomy 21, two cases of trisomy 18 and one monosomy X). One of the trisomy 21 cases was recently presented at the 2013 ACMG Annual Clinical Genetics meeting. Additionally, 14 (0.2%) putative false positive sample results from the verifi® test were not consistent with invasive procedure results or live birth outcomes. As described in other case reports, these putative false positives may actually result from complex underlying biological causes. Full results of the study can be accessed here.
"Our initial commercial experience published today demonstrates that the accuracy of the verifi® prenatal test is consistent with our large, blinded prospective validation study, and we intend to publish additional performance data as our test volumes continue to increase," commented Richard Rava, Ph.D., Vice President of Research and Development at Verinata.
Product enhancements, corporate partnerships and positive payer coverage decisions continue to drive demand for the verifi® prenatal test. In December 2012, Verinata introduced an expanded test menu that includes sex chromosome abnormalities. In January 2013, Verinata signed an agreement with PerkinElmer, Inc. to expand access to the verifi® prenatal test in the United States.