News

The launch of a controversial new prenatal blood test to detect Down syndrome has been put on hold as a fraud expert investigates studies supporting its accuracy.

The company that developed the test, Sequenom Inc., was due to launch the test next month, but internal allegations that employees "mishandled data" led to the immediate suspension of four research and development employees, put the groundbreaking new product on hold and sent the company's stock plummeting.

Critics fear that the test, which could be administered as early as 10 weeks into a pregnancy and is as simple as drawing blood, smacks of eugenics.

The launch of three other prenatal blood tests to detect cystic fibrosis, Rhesus D incompatibility, and fetus gender due in July have also been delayed.

"We don't believe the data from those tests was mishandled in any way but we obviously want to make sure that we don't make any assumptions there, that we actually send in new teams to look at that data, to really rubber stamp it," said Ian Clements, a spokesman for San Diego-based Sequenom.

There was intense interest in the tests from biotech companies and news of the investigation has been a disappointment, said Doug Wilson, head of the genetics committee of the Society of Obstetricians and Gynaecologists of Canada.

"We want good science, we're not going to offer tests to precious pregnancies until we know that the proper answers can be obtained," he said.

The Down syndrome test was the most complicated of the four tests to develop, he added, because it entailed counting and identifying chromosomes, rather than tagging a specific piece of DNA.

It was also one of the most controversial.

Krista Flint, executive director of the Canadian Down Syndrome Society, fears the tests aren't value-neutral and could encourage a decision to terminate a pregnancy without consideration for the contributions and high quality of life of people with Down syndrome.

"We're concerned that there are few ways to measure the moral accountability of the testing," Ms. Flint said. "People with Down syndrome are concerned with a test that may indeed serve to eliminate them from the world.

Current methods for collecting fetal DNA for the detection of genetic abnormalities, such as amniocentesis, involve collecting fluid from the uterus and are associated with an increased risk of miscarriage.

Sequenom's tests are based on a new technology, SEQureDx, which can detect traces of fetal nucleic acids in a mother's blood and screen them for abnormalities. Another advantage of the tests is that they can be used as early as 10 weeks into a pregnancy, rather than 16 weeks.

Researchers at Stanford University have developed a similar technology that could be made available within the next two years.

Based on the data now in question, Sequenom had touted its Down syndrome test as having near-perfect accuracy.

Independent trials are now under way, and the test won't be made available before the results have been accepted by and published in a peer-reviewed journal, probably in 2010, Mr. Clements said.

The company has been tight-lipped regarding whether the mishandling of data was believed to be accidental or intentional. When asked about the genesis of the investigation during a telephone conference, president and chief executive officer Harry Stylli would only say that the probe will be led by a lawyer whose "experience includes 12 years as a federal prosecutor specializing in fraud investigations."