Verinata’s Big Day Arrives, With Prenatal Down Syndrome Test Debut

Xconomy San Francisco — 

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 Verinata Health team. CEO Caren Mason is in the center, with light hair and black fleece.

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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31 responses to “Verinata’s Big Day Arrives, With Prenatal Down Syndrome Test Debut”

  1. Jim Callahan says:

    Nice PR piece for Verinata Luke! This is old news since Sequenom has been testing and expanding capacity for months now. So your statement, “doctors will be able to get their hands on a commercially available genomic test”, is ignorant of the reality, let me give you a few clues.

    -Sequenom owns the critical patents in this market (the “540” patent); simply by entering the market, Verinata is infringing on Sequenom’s IP, and the court challenges have already been filed.

    -Sequenom has been offering MaterniT21 test (the standard that Verinata strives to pirate) since October 2011, and has been increasing its sales force and testing capacity since that launch. The clinical validation studies underpinning Verinata’s test are weak and without merit.

    -Venture capital has stopped flowing into Verinata’s coffers as the result of the patent challenges. Sequenom’s patent has already been defended successfully in Europe, and there is no reason to believe that Sequenom will not be successful in the US as well.

    Other than these and other key omissions Luke, your article was a nice fluff piece for Verinata, good work!

  2. morris MC says:

    Sequenom already processing T21 T18 and T13 test since 10/2011
    Sequenom holds the 540 IP
    Sequenom has higher trial numbers and more accurate data
    Sequenom in European deals
    SQNM on Nasdaq

  3. H. Klein says:

    Luke, you “forgot” some details in your article :

    Verinata’s recently published data in the American Journal of Obstetrics and Gynecology was “inferior” because the company’s high sensitivity and specificity rates were “offset by a high no call rate.”

  4. Jim Carragher says:

    Luke, this Verinata Test will raise some eyebrows at the FDA.

    Did you ask Verinata about the NO CALL RATE ????

  5. Jim Morrison says:

    Take these posters comments with a grain of salt. They holding SQNM long and are trying to bash the competition with negative comments, based on their lack of understanding of medical bio statistics.

    If they read the data they will see that words like “moved the GC line”, remasked, remasked and remasked again are only in the SQNM report.

  6. mikey66 says:

    I reckon the biotech segment is pretty hot right now.
    Why is this guy not writing the article about Sequenom? Really…..Think about it………….$$$$$

  7. TUC says:

    Wow guys, can you stop fighting over who is going to make the most money for a minute and read the reality behind that 2 billion a year:

  8. Charrissa says:

    As a mother of three children with Down syndrome, and an active advocate for both Ds and life in general – this test sickens me. I, and many within the Ds community, will work to educate on the ethical and moral snares of this test. It’s not about patient care, it’s about that estimated $2 billion and ultimately will be a catalyst for continual declines of children with Ds.

  9. Leigh says:

    “This is about execution, execution, execution,” she says.

    Boy – Mason sure got that one right, considering an estimated 90% to 92% of people who find out the fetus they are carrying has DS choose to terminate the pregnancy.

    It appears as if the “theory” of what this test can do for society has overshadowed the reality. Outdated views and assumptions about people with Down syndrome are still highly prevalent in the medical community as well as in society at large.

    Where is the balance and education? Women are first told all the things that could possibly be wrong or go wrong with a child with DS. Most aren’t given any up-to-date or *positive* information at all… yet there is plenty to be had.

    I was given a long-list of possible health defects my daughter “might” have… even after tests showed she did not have any of these defects. (WHY?) I was told it was impossible to know how much DS would affect my daughter and that she might never read. She started reading at age 3! Yes – she has Trisomy 21 where every cell tested was positive for the extra chromosome.

    My daughter is a wonderful human being and no less worthy of life than my other 2 children who don’t have chromosomal anomalies.

    I don’t give a blast which company profits more from this kind of test. I highly doubt either will share a positive picture of, or information on individuals with Down syndrome… because that would be bad marketing, wouldn’t it? No – they want insurance companies to focus on all the money that will be saved by preventing the birth of these children – many of whom could be born perfectly healthy aside from the possession of an extra chromosome. (If up to 43 percent of children with T21 have heart defects – including mild ones, mind you – that leaves more than 50 percent who DON’T – Hello!)

    And… did you know the adoption wait time for infants with DS is almost as long as it is for “healthy white infants?” Yup – many people who *know* anything about DS wait in line to adopt more. Shocking – I know… but not if, like me, you know and love someone with Down syndrome.

  10. Tamara says:

    I wonder what would happen to people with Down syndrome if all this money being spent on research to find easier ways to detect and kill them were given to those researching how to mitigate some of the challenges presented by the overexpression of the 21st chromosome. It’s really sad to see that some folks really only care about short-term financial gains – instead of human beings whose genetic differences are more easily detected by a blood test.

  11. Lisa says:

    “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…”

    Excellent, now that the promo literature and snazzy website are underway, which members of Verinata’s staff and it’s investors have asked themselves this question: “What type of human is too imperfect, too expensive, too much of a burden or just too undesirable to live?” Because chances are, scientific advancements in diagnostic testing–coupled with corporate and personal greed–will make it possible to detect and eliminate almost any condition or trait others see as undesirable.

    The “economic impact” of earlier, safer genetic screening comes at a human cost.

    Every single person reading this needs take a look around them and to take a look in the mirror as they consider the implications of this test.

    Do you or a loved one have–or are you genetically predisposed to–diabetes, breast cancer, alcoholism, mental illness, autism, copd, learning disabilities, or any other condition or diagnosis others may feel is a burden to them?

    Have you ever been a “burden” to a family member, or taxpayers? If you haven’t yet, there will be a time in your life when you will be one or both of those things.

    People are not just going to argue over over “whether it’s ethical to use this kind of information to potentially abort a fetus,” they are going to argue over whether it is ethical for Sequenom or Verinata or Aria to aggressively market genetic screening tests with the end goal of encouraging “preventative care” terminations so companies like Sequenom and Verinata and Aria can make huge profits.

  12. Jen says:

    Wonderful. Hopefully they are also working on a test to test for the propensity to near-sightedness, club feet, low intelligence (or what bout high intelligence…you know those highly gifted kids can be trouble), or hair color or eye color (my gosh, I would never want to raise a baby with blue eyes!)….

    Many of us were assigned to read “A Brave New World” in school. This is one step closer to human engineering.

  13. Wade RoushWade Roush says:

    I understand why this is such an emotional debate, but there’s an important point that many of the commenters seem to overlook. Right now in the U.S., over half of pregnant women over 35 choose to undergo amniocentesis, which carries a small but real risk of miscarriage. The tests from Sequenom and Verinata are non-invasive and aim to provide the same information with zero risk to the fetus. That has to be seen as an improvement.

  14. TUC says:

    Wade, very good point. There are actually a couple of positives about the availability of early, non-invasive, accurate prenatal testing. The problem is not with the test.

    The problem is that Verinata and Sequenom have a very unethical conflict of interest… they want to “help doctors communicate with their patients” and they need to prove to insurance companies that it is beneficial economically to cover the test. The only way that works out is if women are presented with information that encourages them to abort.

    Public writers with no true knowledge on the subject continue to portray Down syndrome as a “severe developmental disability” and thus women are continuously throughout their everyday exposure to media told over and over that people with Ds are a burden, that they suffer, that they cost too much and are too much work. Then one day they find themselves in a doctor’s office and he delivers a much more subtle but similar message (crafted by Verinata and friends and shared by their private genetic counselors with maternal medicine doctors across the US). Then she is asked to make an appointment to terminate her pregnancy.

    Here is what those women deserve so that they can make an informed, educated choice… the implementation of S1810: (1) up-to-date, evidence-based, written information concerning the range of outcomes for individuals living with the diagnosed condition, including physical, developmental, educational, and psychosocial outcomes; and (2) contact information regarding support services, including information hotlines, resource centers or clearinghouses, national and local peer support groups, and other educational and support programs.

    And Verinata and Sequenom have no business pretending that they are the ones who should be delivering that information to doctors.

  15. Putting the issue of abortion/termination totally aside (it is not to be considered in answering this very fundamental question)…

    Given the CHOICE between a totally normal healthy child, or a child with Down Syndrome, what would you choose your child to be?

    The answer must be healthy, or Down’s. Saying, “it doesn’t matter” is the coward’s way of refusing to admit they’d make the common sense choice for their child to be healthy.

    This question obviously is RHETORICAL, as any choice other than HEALTHY is simply ignorant or evil.

    Now once you get past what the right thing is to hope for your children (or anybody’s child), then all you can do is make your own decisions for yourself based on your own values, and stfu when it comes to other peoples lives.

  16. TUC says:

    Dear Common Sense,

    In a perfect world every prospective parent would choose a “Totally Normal Healthy child”, defined as whatever that fantasy means to them.

    However, it is evident that you are completely unrelated to my friend Logic and his cousin, Sequence.

    The answer to your question is irrelevant because the pregnancy precedes the prenatal test. Once a pregnant woman has the test results (specific to your question), she knows the real logical question to ask herself, Down syndrome or dead baby?

    Now only she can answer that question, and it is her right to do so. As far as I can tell, no one has even hinted that she should not have that right, or that she should be judged poorly for choosing to terminate. What I have said is that she deserves as much unbiased information as possible to make an educated choice for herself. And that is common sense.

  17. Common Sense says:

    TUC states:

    “In a perfect world every prospective parent would choose a Totally Normal Healthy child”

    TUC, thank you for having the decency to acknowledge that you are wrong and I am right, you may now stfu.


  18. TUC says:


    Of course you are right but you are right about something irrelevant to the discussion. Do you have anything to add to the actual conversation or are you just going to hold your hands over your ears and scream STFU at anybody who wants to have a dialogue about these important topics?

    What I am wrong about? My assertation is that women should have the right to information in order to make educated decisions for themselves. Do you disagree with that?

  19. John Doe says:

    These companies are simply providing a better way of testing. Plain and simple. Amnio has been done for years and is an invasive test. What the mother chooses do to with the results is 100% her choice. HER CHOICE PEOPLE!

  20. Jane Doe says:


  21. UTSkier says:

    John Doe, choice is not being debated here.  Women being offered an optional, safe genetic screening is not being debated.  What IS being debated is Verinata (or Sequenom or Aria) depending on terminations of babies with Down syndrome for their own viability.  This is about these companies targeting specific, detectable birth defects and encouraging termination to justify the cost of the tests–the lynchpin to their strategies.  Verinata offering and training its own genetic counselors is an enormous conflict of interest.  Pregnant women deserve safe and accurate prenatal tests (if they want to take these tests).  They also deserve balanced, up-to-date and accurate information about any diagnosis discovered through the testing.  It is irresponsible for these companies to not address the education of physicians and clinicians—as well as expectant parents—as part of their business model and plan.  It also shows their clear intent and focus:  profitability over human cost. 
    The particulars of this plan are not getting past the public.  It is obvious that if insurance companies do not reimburse (and they will not if the expensive, dispensable people—those with T21—are still allowed to exist), the investors and shareholders of companies like Verinata won’t see a return on investment as profitability will go down.  Terminations (not diagnoses—but terminations specifically) are what will drive the bottom line for these companies and increase profitability.   It is an ethical Pandora’s Box.  Attempting to decrease the number of people in this country with Down syndrome with the primary goal of increasing profits and making a company viable is morally vacant.  Studies show that people with Down syndrome (and their families) are happy with themselves and their lives.  Many people with Down syndrome go to school, work and are taxpayers.   There are plenty of people who feel that individuals with Down syndrome have value and worth, including people with the diagnosis.  Encouraging terminations of babies with Down syndrome is genocide, plain and simple.  Any other explanation is a cover-up or a straight out lie. 

  22. c weber says:

    Are you nuts! why would abort if the did have downs? Really I have a downs family memeber and he braver then any of you..this sickens me! cowards! let ask my brother if he loves him self? Have you asked any one with downs,,they do talk and speak and bring love to this sick world more then all Normal humans.. pathetic this is sick..

  23. Kiwiaussie says:

    “This is about execution, execution, execution,” she says.

    Well, sadly that about sums it up. The execution of innocent babies who don’t measure up to their parents expectations.

    • BJ says:

      I am having this test done because I my baby is at elevated risk for Down Syndrome. I made the desicion before I even decided to have children, that no matter what, abortion was not an option for me. I will be glad to know if my baby does have Down Syndrome, so I can prepare and my doctors can as well. Don’t you think that knowing and being able to prepare, is better than finding out the day of? It’s nice to know you have so much faith in the human race, because god forbid they might actually make the right choice all on their own, without you controlling their every move.

  24. John Doe says:


    You are over thinking this debate and this entire situation. Maybe you don’t realize what they are actually doing. First, these companies are not as you say “encouraging termination” that is simply outrageous claim. If a patient decides to abort that has nothing do do with them or their reimbursement from the insurance companies. Insurance companies would be more inclined to accept this test since it doesn’t cause miscarriages and risk of the patient suing.

    They can not market directly to customers. The DOCTOR has to order the test directly from them. The consumer can not order a test directly from Sequenom.

    Second, amino is done everyday and can causes miscarriages. This test eliminates that plain and simple. People are trying to make this an abortion debate which is a separate issue and has nothing to do with company providing a test that people want.

  25. UTSkier says:

    “If a patient decides to abort that has nothing do do with them or their reimbursement from the insurance companies.”

    John Doe, if a patient decides to abort and has been provided with accurate, balanced and current information on Down syndrome and what life is like for individuals living with the condition today, you are right.  That is her choice.  However, you are confused about why this test is being administered to pregnant women and about insurance reimbursement. 

    There is a government mandate that all pregnant women be offered this test free of charge.  Doctors are not ordering the test based on risk factors.  Every pregnant woman will be offered this test, with someone (yet to be determined) footing the bill.  It isn’t likely that the government (and us, taxpayers) will cover the cost.   Make no mistake:  companies like Verinata plan to hire and train their own genetic counselors with the intention of encouraging terminations— because getting rid of high cost people (in this case, those that can be discovered prenatally) is what will prove to insurance companies that the test is worth covering:  “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.”  Can it be more clear than that?

    All of that plays into the viability of a company such as Verinata or Sequenom.  They need the reimbursements from insurance companies to kick in.  How many pregnant women are not going to pay $1,200 out of pocket for the test?  It is an issue of economics and basic business principles.

    Yes, a blood test is safer than an amnio.  This is not an abortion debate.  Read closer and open your eyes.  This is about the profitability of genetic cleansing, with Down syndrome being a convenient starting point.

  26. John Doe says:


    Listen. It’s a safer test. That’s all that matters. I don’t care if the company makes a profit.

    Unfortunately the health care system is a business. They don’t care about patients as long as profits continue. That is capitalism and that is the land we live in. I might not agree but I’m not going to blame a company for inventing a new safer way to test for downs syndrome and other genetic defects and try to make a profit. I would gladly pay this company $2000 for this test rather then have my wife stuck with a huge needle and a chance of miscarriage.

    You say there is a mandate. I’m not sure what you are referring too. Yes these companies need to get reimbursement but tax payers have nothing to do with it. If they don’t get reimbursement then they don’t get paid. Encouraging terminations, I think that’s way over board. The counselors only talk directly to doctors. The discussions between the patient and doctor as nothing to do with these companies. The company provides the results and and percentages of risk, that’s it! To think its more then that is simply wrong. Insurance companies will reimburse simply based on demand from the consumer and the fact that it is non-invasive. Not because it will lead to more terminations, even though I concede it may but again that is the mother’s decision.

    It all comes down to 3 choices. You can get a needle in your belly, get a simple blood draw or don’t get any testing. What you do with your test results is a private decision. A decision that is between you, your doctor and family.