Sequenom to Sell Down Syndrome Test 2 Years After Pullback

Sequenom Inc. said its prenatal test for Down syndrome will be available in 20 U.S. cities today, two years after an earlier effort was delayed because employees mishandled research data.

The blood test is accurate in detecting Trisomy 21, the genetic chromosomal abnormality that most commonly causes Down syndrome, 99.1 percent of the time as early as 10 weeks into a pregnancy, the San Diego-based company said in a statement. The test, and others that will be able to identify genetic abnormalities early in pregnancies, will alter the debate over abortion, said Art Caplan, director of the center for bioethics at the University of Pennsylvania.

“For many people this test makes it morally, emotionally and psychologically easier to have an abortion,” Caplan said in an interview.

Caplan said future prenatal tests may be able to indicate if the fetus had biomarkers for Alzheimer’s disease, or breast cancer, or other diseases. Those tests will raise questions about what issues will trigger potential parents to choose an abortion. A survey published last month in the American Journal of Medical Genetics showed that only 4 percent of parents with Down Syndrome children regretted having them.

Ethical Shift

“Ethically, we are now starting to see the shift in the issue of what counts as a medical disorder, what’s significant enough to test for, what’s a genetic disability or just a difference,” he said. “Many in the Down syndrome community would say it’s just a difference.”

Sequenom funded a study, carried out by independent researchers, that confirmed the results of its test. The study will be published in the journal Genetics in Medicine.

“This is the first time that a large independent study like this was done in a blinded fashion, and it’s analyzed independently by the principal investigators,” Dirk van den Boom, Sequenom’s senior vice president of research and development, said in a telephone interview. “I think this is a true validation of the technology that should convince people that this works, very accurately.”

In April 2009, the company said it was delaying the release of its Down syndrome test after discovering employees mishandled research data, and shares plunged 76 percent. More than a year later, Elizabeth A. Dragon, former senior vice president of research and development at Sequenom, pleaded guilty to conspiracy to commit securities fraud for lying to investors about the effectiveness of the test.

Test Procedure

Sequenom’s genetic test uses a blood sample from a woman who is pregnant. The most common current test for Down syndrome inserts a needle into the pregnant woman’s uterus to withdraw amniotic fluid. The needle technique, known as amniocentesis, carries a risk of miscarriage.

This new test, if administered to women at high risk for having a Down syndrome child, can “reduce procedure-related losses by up to 96 percent, while maintaining high detection,” according to the Genetics study.

The company said the test is aimed at the estimated 750,000 pregnancies at high risk for Down syndrome annually in the U.S.

Sequenom’s announcement is a good step toward giving pregnant mothers more accurate information earlier, said Matthew Rabinowitz, chief executive officer of Gene Security Network in Redwood City, California, which is also developing a noninvasive test for Down syndrome.

‘Better’ Earlier

“If a couple finds an abnormality, and chooses to terminate the pregnancy, it’s better to do it earlier,” Rabinowitz said in a telephone interview. A family member of Rabinowitz’s was given a false-negative result during her pregnancy, and gave birth to a child with a genetic disorder, who died shortly after, he said.

“The current state of noninvasive testing is not suitable for this century,” Rabinowitz said.

Down syndrome is characterized by slower mental and physical development, including delayed language and motor skills, according to the National Institutes of Health. Those with the condition are put at greater risk of ailments such as heart and thyroid disease.

Sequenom’s shares increased 4.5 percent to $5.56 at 4 p.m. New York time, the biggest gain among 125 companies in the Nasdaq Biotechnology Index.

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