The Market place For DNA-Sequencing-Based Down"s Syndrome Exams Could Exceed $six Billion

On Wednesday evening the New England Journal of Medication published a research showing that a new, DNA-sequencing based blood test provides a dramatic improvement in accuracy at screening for Down’s syndrome and a 2nd, connected ailment. That could open up a $ 6 billion market to the biotechnology companies that are presently advertising these exams.

Each 12 months in the U.S. there are 6.six million pregnancies and 4 million births, in accordance the Centers for Ailment Management &amp Prevention. The record costs of the exams, which are sold by four distinct organizations, assortment from $ 700 to $ 2500. Assuming that pricing settles in the middle of that range and that there are 5 million women who select to have the test, that would be a $ eight billion marketplace.

But give that number a haircut. “I have to imagine pricing could come down much more aggressively if tips expanded,” says Douglas Schenkel, an analyst at Cowen &amp Co. Not each and every pregnant woman will ever get the check. But he still argues that the industry for these exams could increase six-fold from its present dimension of about $ one billion. Isaac Ro, an analyst at Goldman Sachs, supplied comparable estimates in a note to clientele.

Such a industry expansion could be critical to all of the companies that make the tests, such as Ariosa, which can make the lowest cost check, Natera, and Sequenom Sequenom. But the biggest winner could be Illumina, the San Diego maker of DNA sequencing gear that funded the trial and that obtained Verinata, a fourth maker of the new exams, for $ 350 million final year.

Illumina says it believes Verinata has strong intellectual home position in this booming new industry. Past that, however, all four producers run their exams on Illumina’s DNA sequencing machines, which means the firm wins no matter what. Francis DeSouza, Illumina’s president, stated in an interview that, if anything at all, he expects to commit significantly less on marketing Verinata and that the business is taking care for there to be an even playing field for the exams. It prices its check in the mid-range of the marketplace, at a $ one,500 checklist price tag.

Illumina also says that it does not anticipate a value war, since the market place expansion will be dependent on healthcare societies writing suggestions that endorse the new check. Right now the American University of Obstetricians and Gynecologists suggests the DNA-based mostly tests only for mothers at substantial danger, including people more than 35.

But the NEJM paper makes a strong argument for expanding that recommendation. Proper now it is suggested that all pregnant females be presented a pair of tests – a blood test and an ultrasound to search for fluid at the base of the fetus’ neck – to display for 3 issues induced when the infant has an further copy of 1 of the 46 chromosome bundles that incorporate the human genetic code. There are 3 this kind of issues that occur commonly: trisomy 21, or Down syndrome, is the most common, creating diminished intellectual ability and slower development trisomies 18 and 13 are less typical, but are often fatal for the infant.

Present screening exams yield a huge variety of false positives, so they have to be followed up with an invasive test that samples cells from the fetus. One such check, chorionic villus sampling, has a miscarriage price of 1 in 200 the other, amniocentesis, causes miscarriages one out of every single 600 instances.

These invasive exams would nevertheless be essential to verify positives from the DNA exams, but they’d be utilised in ladies whose fetuses really do not have Down’s or other trisomies far less typically. The NEJM examine gave the old screening exams and the new DNA-based mostly test to 1,914 pregnant women and followed them right up until the baby was born. For Down Syndrome, the new test gave just six false positives compared to 69 for the previous screening exams. For trisomy 13, there had been 3 false positives with DNA sequencing in contrast to eleven with the classic number. For trisomy 13, the numbers were 1 and 6.

Assuming five million women are tested each and every year, that would indicate 245,000 would be spared an invasive check, and 358 miscarriages may possibly be prevented. Even at a larger expense, that could be tough for insurance coverage companies to say no to. Some professionals, which includes Illumina, assume that more studies will be needed to modify the recommendations.

How does the new check perform? Basically, by counting. Because some of the fetus’ cells circulate in the mother’s blood, researchers can sequence DNA and see if genes from any chromosomes appear also typically. For a much more complete description, examine out the video embedded from Steve Quake at Stanford, who co-invented Verinata’s technological innovation. His explanation commences at five:fifty five.

Not everyone is positive that the new technological innovation, recognized as non-invasive prenatal testing, is an unmixed blessing. Hank Greely, a professor of law at Stanford Law College who has written extensively on genetic concerns, says that the new test is “more reason to think NIPT will largely take more than Down’s screening.” But he warns that these very same approaches may possibly lead to exams for far more difficult tests. “If, say, 70% of American pregnancies obtained broad genetic screening, the up coming generation would look diverse – some will say for better, some for worse.”

The Market place For DNA-Sequencing-Based Down"s Syndrome Exams Could Exceed $six Billion