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CombiMatrix Prepares New Test Offerings as Reproductive Health Services Drive up Revenues

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NEW YORK (GenomeWeb) – CombiMatrix is developing two new tests that will expand its place in the reproductive health market, one of which will complement existing chromosomal microarray analysis services and the other of which will open CombiMatrix up to a new market segment.

The company is already benefiting from its focus on prenatal and pediatric CMA services, which drove revenues up 13 percent in the first quarter, and the firm has plans to broaden its offerings in the reproductive health arena, CEO Mark McDonough said on an earnings call.

In a follow-up interview with BioArray News, McDonough said that both new products are in R&D but have already demonstrated proof of principle. When asked about the tests, he characterized the first as an expanded CMA service and the second as "an opportunity in the reproductive health, endocrinology, and in vitro fertilization markets that we are going to pursue." He did not elaborate.

Those markets have enticed others to the space, notably Illumina, which in 2012 and 2013 acquired chromosomal microarray developer BlueGnome and non-invasive prenatal test provider Verinata. Though it is unclear if CombiMatrix is readying an IVF offering, BlueGnome already has a number of pre-implantation genetic diagnosis and screening arrays on the market, including its recently launched CytoSNP Karyomapping array. Sales of the arrays have helped lift Illumina's array revenues in recent quarters.The array-based IVF testing market should gain another provider later this year when Australian biotechnology company Reproductive Health Science launches its own array-based test for PGS.

No 'gloom and doom'

But while the reproductive health market appears to be fertile ground for array-based applications, some other major players have decided to pull out of it. Earlier this month, PerkinElmer announced that it would shutter its Signature Genomics laboratory testing business, citing a difficult reimbursement environment, as well as competition for next-generation sequencing-based non-invasive prenatal testing.

McDonough however portrayed the reimbursement landscape as "dynamic and fluid," and while he acknowledged there was a risk that the situation could worsen, he said there was the same opportunity for it to improve. He reiterated that the company sees NIPT as a "very complementary" test to invasive CMA, as clinicians who receive inconclusive NIPT results will reflex to CMA for follow-on testing.

"We are not seeing the gloom and doom that you have seen from some of our competitors," McDonough said.

However, McDonough acknowledged that CombiMatrix was expanding its sales team to better educate maternal-fetal medicine specialists and obstetricians and gynecologists about the differences between NIPT, which tests for several known anomalies, and CMA, which detects potentially pathogenic aberrations across the genome. When asked if there is confusion in the market about the two different kinds of tests, McDonough noted that companies such as Illumina that offer NIPT, maintain sales forces that dwarf CombiMatrix's 12 sales executives.

"The people who are being educated might not be getting the whole story," McDonough said. "NIPT and fluorescence in situ hybridization are very targeted, specific, and sensitive approaches, but they miss things," he said. "Some love that fact that NIPT is just a blood draw, but some people have to have CMA to obtain the whole picture."

To better educate potential clients about CMA, the company has been investing in its sales force, McDonough said, noting the firm has added five representatives and expanded its geographic reach since the beginning of the year.

While CMA is CombiMatrix's flagship offering, McDonough is open to using other technologies. Last year, CombiMatrix and Sequenom inked an agreement to offer CMA as a complement to Sequenom's MaterniT21 PLUS test, which uses sequencing to analyze the relative amount of trisomies 21, 18, and 13, as well as X and Y chromosomal material in cell-free DNA obtained from a pregnant woman's blood sample in order to diagnose fetal aneuploidy.

"Our goal is to be the preeminent laboratory in this testing environment," said McDonough, "but we are not married to microarrays."

Miscarriage analysis

While invasive prenatal CMA testing was largely responsible for CombiMatrix's Q1 revenue spike, miscarriage analysis was a significant component of that, and CombiMatrix continues to see performing this type of analysis as a "huge opportunity" going forward.

"It's like cancer was 45 years ago, it's a secret," McDonough said of having a miscarriage, "and more people are affected than you know." He said that about 150,000 women each year have a miscarriage for the third or more times, and about half of those miscarriages occur because of genetic reasons.

However, because laboratories have traditionally used culturing to obtain cells from products of conception for cytogenetic analysis, and it is difficult to culture dead tissue, current methods only have a 50 percent success rate and can take three weeks to perform versus CMA, which has a 95 percent success rate and takes a week to carry out.

"They need that better answer, and that's why microarray is such a great fit," McDonough said, adding that large hospital systems have "really been taking to this."

Over the past year, CombiMatrix has announced a number of partnerships with labs to offer CMA for miscarriage analysis, including deals with American Pathology Partners, ProPath, and Manhattan Laboratories.

The company noted in February that it had seen an uptick in product-of-conception testing volumes since the American Congress of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine in December recommended CMA as the preferred test for identifying the cause of death in stillbirths.

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