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CombiMatrix CEO Talks Sequenom NIPT Partnership, Prenatal CMA Uptake, Reimbursement Milieu


NEW YORK (GenomeWeb) – It's been a year since CombiMatrix partnered with Sequenom to make its prenatal chromosomal microarray analysis service a reflex test to broaden and confirm Sequenom's MaterniT21 PLUS test results, and the partnership is going well, according to CombiMatrix CEO Mark McDonough.

"Our revenue from the partnership is ramping and physician awareness about our offering is certainly increasing as well," McDonough told BioArray News this week, noting that the two companies are combining their sales efforts to sell Sequenom's next-generation sequencing-based noninvasive prenatal test with CombiMatrix's CMA offering.

"We feel there is still a substantial growth opportunity in front of us, though, as we leverage and train the 70-plus field representatives they have to complement our 14 field representatives," McDonough said. "We will continue to work together in the ongoing education of physicians, genetic counselors, and patients on the comprehensive nature of the diagnostic microarray test as an excellent reflex to the targeted non-invasive screen," he said.

The alliance, announced in July 2013, was the first to combine NIPT and CMA into one offering, and was based on McDonough's long-held position that given its genome-wide scope, CombiMatrix's CMA service is complementary to, rather than competitive with, noninvasive NGS-based tests like MaterniT21 PLUS, which analyzes the relative amount of 21, 18, 13, as well as X and Y chromosomal material in cell-free DNA.

Demand for CombiMatrix's prenatal CMA service in general continues to increase. The firm last week reported a 29 percent surge in second quarter revenues, largely attributable to increased prenatal testing volumes. CombiMatrix began offering CMA as a service in 2006, but McDonough said that the firm has seen its fortunes in the pediatric and prenatal cytogenetic testing arenas improve within the last two years due to several factors.

One of these is the company's "tremendous amount of expertise and human capital" devoted to microarray technology, which McDonough considers the "roots of the company." Indeed, CombiMatrix's molecular diagnostics arm was formed in 2005, expanding the activities of the company, which had developed and sold array products for research and biodefense applications since its founding in 1999.

"Microarray testing is the best way for our team to differentiate our lab services," said McDonough.

Another impetus for increased prenatal CMA uptake was a 2012 New England Journal of Medicine study that showed that CMA is capable of detecting more clinically significant findings than karyotyping on fetal DNA obtained from amniocentesis and chorionic villus sampling.

Said McDonough, "It is simply the right time to use CMA in prenatal testing today."

A year after the publication of the NEJM study, two professional organizations — the American Congress of Obstetricians and Gynecologists and the Society of Maternal Fetal-Medicine – issued a joint committee opinion that prenatal CMA be used in cases of abnormal ultrasound findings. ACOG and SFMM also recommended CMA as a preferred test to determine the cause of death in stillbirths. It's this latter event that has aided CombiMatrix not only in selling its services, but gaining reimbursement for them.

Though PerkinElmer cited reimbursement issues as one of the primary factors in its decision earlier this year to shutter its Signature Genomics business, McDonough characterized the reimbursement environment as "dynamic and fluid," noting that investments in its billing team have paid off, with "record cash collections" in Q2.

"The ACOG committee opinion recommendation in November 2013 is helping drive this process, we believe, with testing on amnios and CVS," McDonough confirmed. "We are investing in this critical part of the business and we are confident that we have a very strong cost effectiveness argument for why microarray testing should be used for various applications," he added.

In the case of miscarriage analysis, McDonough believes the firm's microarray platform has also played a role in winning reimbursement. Last year, CombiMatrix opted to move to the Illumina iScan platform for its services. The company had used Agilent Technologies-manufactured microarrays in the past. CombiMatrix uses Illumina's 850K SNP array, which provides it with sufficient coverage to test for triploidy, maternal cell contamination, and whole-chromosomal abnormalities.

In the past, CombiMatrix had to run fluorescence in situ hybridization and other tests in addition to arrays to provide that information to clients. "This array has eliminated the need to run many non array, lower margin tests separately," said McDonough.

"It is important to note that we are also helping to avert significant diagnostic costs for payers with our CombiSNP for recurrent pregnancy loss test and, in addition, we are able to test previous miscarriages from archived tissue to provide better information to the recurrent pregnancy loss victim," he said. "We would like to see this technology be considered as the standard of care [for miscarriage analysis] in the very near future and are confident it will get there."

The company's efforts in the miscarriage testing market received a lift In recent weeks, when the New York State Department of Health conditionally approved the use of the CombiSNP test for miscarriage testing on fresh and formalin-fixed, paraffin-embedded patient samples. CombiMatrix similarly announced last month that it received conditional approval from New York State to market its CombiSNP chromosomal microarray analysis test for pediatric development disorders.