Researchers have been dreaming for a couple decades of taking a simple blood draw from a pregnant woman, and using it to determine whether a developing fetus has Down syndrome. Now this week, after a decade of R&D fits and starts and $100 million of investment, doctors will be able to get their hands on a commercially available genomic test from Redwood City, CA-based Verinata Health that promises to deliver that answer.
The company, formerly known as Living Microsystems and Artemis Health, is poised to make that transition to the marketplace tomorrow with the rollout its Verifi prenatal genomic test. This test, developed with technology from Steve Quake’s lab at Stanford University, is the newest entrant in a market that San Diego-based Sequenom (NASDAQ: SQNM) charged into last October with a test called MaterniT21.
The companies are pursuing a multi-billion dollar market that could ultimately change the practice of medicine in the early stages of pregnancy, for as many as 4 million women who give birth in the U.S. each year. Traditional prenatal blood screens that look for biomarkers are notoriously unreliable at detecting Down syndrome or other rare chromosomal abnormalities. The gold standard tests for accuracy—amniocentesis and a procedure called CVS—are invasive, and carry a small risk of miscarriage that many women prefer to avoid. It’s only now that fast and cheap gene sequencing instruments have become available, combined with algorithms to analyze the mother’s blood, that Verinata says it can tell with startling degree of accuracy when a developing fetus has severe developmental disabilities like Down syndrome, Edwards syndrome, or Patau syndrome.
All at a cost of $1,200.
“The promise of this eventual capability has been in play for more than 20 years. Now when it’s finally here, there’s a wonder and awe in the community,” says Caren Mason, Verinata’s CEO.
The science of the new test is made possible by some of the major innovations in sequencing instruments. For years, researchers tried to search for clues about chromosomal abnormalities in maternal blood by looking for a few precious blood cells from the fetus. That proved impractical, Verinata president Richard Rava says, as a typical blood draw might have 200 billion blood cells, and only 10 of them from the fetus, and those 10 cells are typically quite fragile. “We were literally looking for the needle in the haystack,” he says.
The newest tests aspire to be “cell-free” and instead look at the DNA that’s left over in those blood samples from cells that die. Looking at the problem from that perspective, about 75-80 percent of the blood contains DNA from the mother, and 20-25 percent comes from the fetus, Rava says. “You’ve got a lot more DNA to work with,” he says.
Today’s Verinata system takes the blood sample, runs it through an Illumina HiSeq 2000 genetic analysis machine at its headquarters, and comes up with a count that can tell whether there’s a chromosomal abnormality in the fetal DNA.
Last week, Verinata published the key study that it says provides the foundation of evidence it needs to start selling its test. The company collected samples from 2,882 women with “high-risk” pregnancies, in their first and second trimesters, who were undergoing prenatal diagnostics at 60 U.S. medical centers. The data was published last week in Obstetrics & Gynecology (aka, The Green Journal), the official publication of the American College of Obstetrics and Gynecology. The study showed that Verinata’s test was accurately able to identify all 89 cases of Down syndrome (Trisomy 21); 35 out of 36 cases of Edwards syndrome (Trisomy 18); and 11 of the 14 cases of Patau syndrome (Trisomy 13). There were no false positives that could have caused unnecessary alarm.
That kind of hard data is the linchpin in Verinata’s commercial strategy in the early days. “Once you have that level of proof, you’re ready to go the market and speak to clinicians,” says Mason, the former CEO of San Diego-based diagnostics maker Quidel (NASDAQ: QDEL).
So far, Verinata has staffed up with 40 of its 100 employees on the commercialization team. The sales group is spread around the country (with the exception of New York, where the company has to do further testing before entering the market, Mason says). The company’s initial plan is to narrow down the pool of 47,000 obstetrician/gynecologists to focus on the 2,000 or so that are certified as maternal/fetal medicine specialists, ones who typically perform tasks like in vitro fertilization, which comes with higher risk of chromosomal abnormalities.
Verinata’s commercial team has sought to check every box imaginable to get ready. There’s promo literature to prepare. There’s a snazzy website designed to appeal to doctors and patients. There are procedures established for quick and easy sample collection, and FedExing the boxes to Verinata. The company has hired genetic counselors to help doctors with communicating results to patients, and has people working on economic impact, which it hopes will persuade insurers to cover the cost of the test over time, Mason says. The turnaround time for getting an answer is estimated at about eight to 10 days, which Verinata hopes to improve on as it scales up over time, she says.
The initial market Verinata is focused on is with the 600,000 to 700,000 women each year who get classified by their provider as having a “high-risk” pregnancy. About 10,000 of those women end up actually having one of the chromosomal abnormalities in question, so that means there are a lot of women out there worrying about their status, without clear information to go on, unless they opt for the invasiveness of amniocentesis or CVS.
Several other companies are going after variations on this idea. Sequenom is marketing its test, and San Jose, CA-based Aria Diagnostics and Redwood City, CA-based Natera (formerly Gene Security Network) also are in the mix developing their own tests. This isn’t exactly the friendliest of rivalries you’ll ever see, as Sequenom recently sued Aria and Natera for patent infringement, and Verinata sued Sequenom for infringing on its intellectual property.
Despite some of the lofty claims being made about 100 percent accuracy, Mason acknowledges that no clinician is going to think of Verinata’s test, or anyone’s at this point, of being a single silver bullet of information for making clinical decisions. Over time, the hope is to make amniocentesis and CVS obsolete, Mason says. It’s possible that physicians may use high-resolution 3-D ultrasound images to help confirm the findings they get from a genomic test like Verinata’s, to establish when a fetus has Down syndrome, and when it doesn’t.
As time goes on, Verinata’s bet is that its test will eventually gain acceptance from insurers, even though right now it doesn’t have dedicated reimbursement codes. As clinicians become more confident in relying on the data in their practice, the Verinata test could be incorporated into guidelines from major medical societies like the American College of Obstetrics and Gynecology. With an estimated 2.3 million women in the U.S. getting prenatal screening tests of some kind, at a pricing of $1,200 per test, the total potential market for such a test could exceed $2 billion a year if it gets incorporated into the standard of prenatal care, Mason says.
That might be the “blue-sky” vision for Verinata 10 years from now, but this week, Mason says she doesn’t want her team to get too far ahead of itself in terms of what the technology can and can’t do. “It’s about appropriateness and thoughtfulness and attention to detail and providing very good patient care,” she says. There are a million things that could sink the endeavor, whether it’s competition, litigation, insurance resistance, or physician skepticism. There’s even potential for political and moral debates to sidetrack the company, as people argue over whether it’s ethical to use this kind of information to potentially abort a fetus.
But Mason says she came out of retirement to take this job, after a 30 year career in diagnostics, because she felt so strongly about Verinata’s potential to provide valuable information to women about something so important to their lives. She sounds deeply determined to get this one right. “This is about execution, execution, execution,” she says.
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