Sequenom CEO Harry Stylli vowed to me last fall that he is on a mission to build the “Google of Molecular Diagnostics” in San Diego. Now he has a new batch of clinical trial results in hand that has done nothing to diminish his audacious goal.
The San Diego-based company (NASDAQ: SQNM) said last night that its diagnostic method, which analyzes the RNA of a tiny sample of the mother’s blood instead of more-invasive procedures that run the risk of miscarriage, was almost 100 percent accurate at spotting Down syndrome in a developing fetus. The data was collected from blood samples of 858 pregnant women (which includes data from the first 400 reported in September), Sequenom says. Detailed results should be published in peer-reviewed journal in mid-2009, the company says.
The results from the study, which confirm earlier findings, means that the company remains on track to introduce its SEQureDx test to the U.S. market in June, Stylli says. This is potentially a “paradigm-changing breakthrough” in the words of analyst Elemer Piros of Rodman & Renshaw, because the Sequenom technique is far more accurate than traditional blood tests that fish for proteins in the blood, and it’s safer than highly- accurate but invasive procedures like amniocentesis and CVS, which carry a risk of miscarriage.
With about 4.2 million live births in the U.S. every year, and about two-thirds of fetuses already getting screened for Down syndrome, this is a big opportunity.
“This is outstanding performance,” Stylli says. “The more data we look at, statistically, the better the data gets.”
The concept driving Sequenom’s test is that as the fetus develops, small fragments of its DNA and RNA spill into the mother’s bloodstream, Stylli says. The Sequenom test fishes out those DNA and RNA fragments, which can identify with certainty whether a child has a copy of an extra chromosome, the cause of Down’s. This is a big concern for many families, because Down’s is a leading cause of mental retardation, occurring in about 1 in 1,000 births, and the risk increases as expectant mothers age.
Here’s a basic rundown of the data from the full group of 858 patients analyzed in what is called the R&D study, according to presentations Sequenom made to analysts last night. The test was 100 percent accurate at predicting when a fetus had Down’s, when it was double-checked with the gold-standard for accuracy, amniocentesis. There was, however, one case of a “false positive” result in which the test said a fetus had Down’s, when, in fact, didn’t. Statistically, that means the test is 99.9 percent accurate, almost identical to the track record of amniocentesis, Stylli says.
This data stands far above the standard protein-based tests, the standard tool for millions of pregnant women. Those tests also can generate false positive results, which alarm the family about a disease unnecessarily between 10 percent and 25 percent of the time, depending on the test.
The latest results aren’t going to be used as marketing material for the Sequenom test, although it gives Sequenom the confidence to move full throttle on a more ambitious development program, Stylli says. The company also is laying groundwork for the market launch by generating interest among physicians, and making it easier to recruit patients to clinical trials, he says.
What that means is the ultimate data that will decide whether this diagnostic is a hit will start coming out later this year. One trial, called LDT, is being conducted among 3,000 to 5,000 pregnant women. That study, assuming it is also positive, will be used to bolster SEQureDx’s market introduction in June, and full results should be published in a peer-reviewed journal in 2010, Stylli says.
Another study, called the “RNA” trial, will provide much more evidence, from 10,000 patients. The first peer-reviewed publication on that study is scheduled to appear in the fourth quarter of this year, Stylli says.
This certainly intrigues Wall Street analysts, like Piros, who projected in October that Sequenom shares could be headed to $65 on this opportunity. But doctors are a different story. The American College of Obstetricians and Gynecologists currently recommends that all women get a prenatal screen for Down’s, although they don’t specify which one. That is an important endorsement Sequenom wants to win, and it probably won’t come until 2010 or 2011, Stylli says. The medical audience will demand evidence published in peer-reviewed journals, and loads of it, before they give their full stamp of approval.
“They’re opening the door, but they haven’t let us in yet,” Stylli says.
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