San Diego-based Sequenom (NASDAQ: SQNM) says today it’s making a prenatal test for fetal Down syndrome available in 20 U.S. cities, 2 1/2 years after the company shelved the debut of an earlier Down syndrome test due to “mishandled” research data.
The proprietary test announced today is a laboratory-developed test (LDT) that detects an abnormal chromosome for Down syndrome in the fetal DNA fragments found in a maternal blood sample. A Sequenom-funded study that confirms that the technique is 99.1 percent accurate also is being published in the journal Genetics in Medicine by an independent group of researchers.
A spokeswoman for Sequenom says the test announced today is a “completely new” diagnostic approach that analyzes fetal DNA circulating in the mother’s bloodstream, using next-generation genetic “shotgun” sequencing technology developed by Illumina (NASDAQ: ILMN), the San Diego maker of genetic-analysis equipment.
The diagnostic technology that Sequenom shelved in 2009 was based on detecting fetal RNA in maternal blood samples. Following an internal investigation into the mishandled clinical data, Sequenom ousted CEO Harry Stylli, former R&D chief Elizabeth Dragon, and three other employees.
Sequenom says the 20 cities where its MaterniT21 test is now available are part of a phased rollout of the new test, which is intended for pregnant women who are at higher risk for Down syndrome (roughly half of the mental retardation cases in the United States). Out of 4.2 million births in the U.S. each year, about 750,000 are considered high-risk (based mostly on pre-screening or because the mother is 35 or older). Only about one out of five of these high-risk cases, however, undergo amniocentesis or chorionic villus sampling, two invasive procedures that can accurately determine Down syndrome but carry a slightly higher risk of miscarriage.
Sequenom is offering a different approach. A doctor would first send a maternal blood sample for the MaterniT21 test to the Sequenom Center for Molecular Medicine in San Diego, a lab certified under federal CLIA regulations just over a year ago. (The company announced last week it is planning a similar CLIA-certified lab in North Carolina). The physician would receive the results in 8-10 business days, and determine if a higher-risk procedure is warranted. Andy Pollock of The New York Times wrote a thorough account of the technology here.
On Sept. 2, Sequenom said it had agreed to a SEC “cease and desist” order arising from an investigation into Sequenom’s misconduct, which securities regulators began in 2009. That order was focused on claims the company had made about its prior RNA technology, and included no monetary penalties.
The U.S. Attorney filed a criminal charge against Dragon in mid-2010 that alleged she had disseminated materially false information and had made misleading statements concerning tests of Sequenom’s RNA technology. She pleaded guilty, but died in February, before sentencing, according to the company’s last earnings filing.