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CombiMatrix Believes NGS Preimplantation Genetic Screening Test Will Attract New Customers

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NEW YORK (GenomeWeb) – Breaking its exclusive focus on tests based on microarrays and other legacy testing technologies, CombiMatrix announced earlier this month that it is launching its first next-generation sequencing assay, in the preimplantation genetic screening space. The company anticipates accepting its first samples in the middle of June.

CombiMatrix CEO Mark McDonough told GenomeWeb that the new NGS-based PGS test will initially join, and eventually replace, the company's current array-based CombiPGS option, which CombiMatrix launched in late 2014.

"Most customers that we already have for our array CGH … they aren't clamoring for NGS like new prospects [might be] but they welcome a move to NGS," McDonough said. "So retire is too strong a word, but we do plan to move things over [to sequencing] over the course of Q3, because we really think it's better clinically, it's better for our lab, and it's better for patients and doctors."

PGS is performed in the context of in vitro fertilization, where couples can elect to test their embryos for chromosomal abnormalities prior to implantation as a way to reduce the risk of miscarriage or an abnormal pregnancy.

According to McDonough, there are three main reasons the company decided to implement NGS in its PGS services. First, it offers better throughput compared to arrays. Secondly, there appears to be added clinical value in the broader analysis that sequencing offers.

NGS will offer current and future CombiMatrix customers improved accuracy and sensitivity in the detection of both chromosomal and segmental aneuploidies via more comprehensive coverage of the whole genome.

Third, McDonough said, fertility specialists, who CombiMatrix would like to be able to recruit as customers, are asking for NGS.

"In our team's interaction with physicians and our interactions at the American Society for Reproductive Medicine, it's clear that this is what is being asked for … [plus], our major competitors are going to NGS, and luckily we have a really great team that can bring things up in an appropriate but also expeditious manner, so we made the commitment to jump in."

As a cash-pay market, PGS also offers a good entrée for CombiMatrix into NGS, without the need to overcome reimbursement hurdles.

The company's new PGS test uses Illumina's VeriSeq PGS kit and runs on a MiSeq instrument that McDonough said the firm installed this April, running validations over the last six to eight weeks.

In addition to labs that also employ the Illumina VeriSeq PGS kit, CombiMatrix is joined in the NGS-based PGS field by Goodstart Genetics, which launched its EmbryVu test last year, based on a sequencing method the firm licensed from Johns Hopkins University.

Notwithstanding the company's new adoption of NGS-based PGS, McDonough said that arrays will continue to be a prominent part of CombiMatrix's business.

The company began offering its first pediatric chromosomal microarray analysis eight years ago, and expanded its menu since then to include array-based tests for miscarriage analysis and prenatal diagnosis.

"We think that microarray technology is very [powerful,] and we don't think it's being usurped or outmoded. We think it has real applications," he said.

However, CombiMatrix is considering other areas where NGS might have utility in its prenatal testing menu, McDonough said, though he declined to provide any details.

"We are guarded about giving too much guidance, but it's fair to say our scientific team is excited about NGS and its capabilities … if there are areas where we can be functionally equivalent and garner some throughput advantages or clinical benefits," he said.

McDonough said the company is currently cross-training its staff for NGS-based PGS, but in the future, if CombiMatrix evolves into a much more sophisticated NGS shop, it would expand with new hires in bioinformatics and other areas.

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