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Tuesday, Apr 23, 2024

Sequenom Marks 1-Year Launch of Blood Test to Detect Fetal Abnormalities


CEO: Harry Hixson.

Revenue: $55.9 million in 2011; $47.5 million total revenues in 2010.

Net income or loss: Net loss of $74.2 million in 2011; Net loss of $120.8 million in 2010.

No. of local employees: 400+.

Headquarters: Torrey Pines.

Year founded: 1994.

Stock symbol and exchange: NASDAQ: SQNM.

Company description: Sequenom Inc. is a life sciences company committed to improving health care through revolutionary genetic analysis solutions.

Key factors for success: Increased field sales force; publication of MaterniT21 PLUS T18/13 clinical study results; complete AMD progression study; increase throughput and reduce COGS for the MaterniT21 PLUS LDT; complete build-out of North Carolina laboratory facility.

San Diego-based Sequenom Inc. has reason to celebrate one year after its commercial launch of the MaterniT21 Plus, a prenatal blood test to detect fetal chromosome abnormalities.

In addition to tallying up a run of 27,000 tests through September, Sequenom has extended its testing services to countries in Asia, Europe and the Middle East, including Hong Kong, Japan, the Netherlands, the Czech Republic and Israel.

The blood test given to expectant mothers as early as 10 weeks of pregnancy is most commonly used to target trisomy number 21 to detect Down syndrome. In addition the test can target trisomy 18 to detect Edwards syndrome and trisomy 13 to detect Patau syndrome. Although MaterniT21 is not a typical gender test, it can be used to report the presence of the Y chromosome, or male chromosome, which is useful in pregnancies that are at risk for disorders that are more common in boys.

The tests are performed in Sequenom’s San Diego laboratory, which receives shipments of blood samples collected at doctor’s offices or blood drawing stations. Sequenom reports the results back to the physician who then informs the patient. The turnaround time is about seven business days and the company is aiming for a quicker response in seven calendar days.

Harry Hixson, Ph.D., chairman and CEO of Sequenom, said nearly 98 percent of the tests that have been run have been negative. For tests that are positive, the company recommends the results be confirmed with either an amniocentesis or chorionic villus sampling.

Less Invasive Option

Hixson said the MaterniT21 test is a less invasive option for mothers who want to avoid the risks associated with invasive procedures. He said published studies indicate one in every 200 amniocentesis procedure results in the loss of a fetus.

“If a test is positive then going ahead and doing an amniocentesis to verify the results would be a good medical practice, but it’s up to the physician and up to the patients to make their own decisions based on the information provided,” Hixson said.

Based on a Discovery

The MaterniT21 test was developed based on a discovery made by Dennis Lo, a professor at Oxford University. Lo is considered a founding scientist in the detection of fetal material in maternal blood.

Dirk van den Boom, senior vice president of research and development for Sequenom, said Sequenom began developing the assay in 2009 and conducted the majority of the clinical work and validation in 2010 and 2011. An independent study from the Women and Infants Hospital at Brown University, in which 4,600 samples were collected and more than 2,000 samples were processed, formed the basis for the commercial launch one year ago.

Van den Boom said the MaterniT21 is 99 percent accurate.

“The test is in line with the current technology, which is amniocentesis,” he said. “It’s comparable by half a percentage point.”


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