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Illumina Infinium Arrays at Heart of Recombine's New Carrier Screening Testing Service


Recombine is a relatively new genetic testing company that, for the moment, has a genetic disease carrier detection screening test called CarrierMap as its flagship offering.

And while CEO Alex Bisignano concedes that in the future genetic testing is likely to be carried out on next-generation sequencing platforms, for the time being, the New York-based company, which raised $3.3 million last week, will continue to rely on a custom Illumina-manufactured BeadChip for CarrierMap and other tests.

"One of the things that our platform can do really well, that even sequencing platforms have a hard time with, is [detect] large deletions," Bisignano told BioArray News.

"In the long term, I think everyone expects that we will eventually reach full exome and full genome coverage, but what is interesting is that a lot of the monogenic mutations are actually complex rearrangements that you can't get on these high-content, full-exome captures, and require specialized molecular techniques and that is what our custom chip is very good at doing," Bisignano added. "That's what makes us hesitant in terms of moving onto a sequencing platform – that we would actually lose confidence [in detecting] very important mutations."

Bisignano founded Recombine together with Santiago Munné, the founder and director of preimplantation genetic diagnosis firm Reprogenetics. While evaluating different array platforms for use in PGD, Bisignano and Munné decided to found a more general genetics company, which they christened Recombine. Munné served as Recombine's CSO.

The company launched CarrierMap, its first product, a year ago. According to Bisignano, the custom array underlying the service contains 12,000 markers associated with 213 genetic diseases, from Abetalipoproteinemia to Zellweger spectrum disorders. A full list of diseases covered is available on Recombine's website.

"We focus on diseases that would affect the health of the child early on in life," said Bisignano, "diseases that are relatively common in certain populations and across populations." He said that the fact that the test uses Illumina's Infinium assay provides the company with high confidence in its results.

"One of the great things about that platform is that it is a solid-state assay," said Bisignano. "We are able to put tons of primers within the same region without fear of dimerization, and that has allowed us to develop novel strategies for [detecting] many mutations," he said.

Another advantage of using the Infinium platform is the opportunity to expand the array's coverage in the future. "The Infinium assay is rather flexible," said Bisignano. "It allows for what's called an add-on beadpool synthesis, which can take between four and eight weeks," he said. "This simply adds new bead types to our pool, without negatively impacting current beadtypes," Bisignano added. "In this manner, we'd be able to update [the array] pretty easily."

Reprogenetics currently processes CarrierMap for Recombine, although Bisignano said the firm might bring the test in house as volume needs rise. He said that CarrierMap's cost differs depending on the market – domestic versus international. In all markets, Recombine offers a cash-pay price point of under $1,000, Bisignano said. In the US, it offers discounted pricing for uninsured individuals in need of assistance, charging less than $500 per test.

The test is sold exclusively through doctors and clinics, and Bisignano said that Recombine has processed 7,000 samples since its January 2013 launch. He noted that the firm recently hired a sales force of six people to introduce CarrierMap to fertility clinics and obstetrics and gynecology practices.


Recombine intends to use the proceeds from its recent Series A financing to expand its engineering and bioinformatics teams as part of a larger push to undertake research projects, with the ultimate goal of developing and launching new diagnostics.

The next closest test to commercialization is FertilityMap, a multivariate, microarray-based assay. Recombine is set to embark on a study involving 10 fertility clinics to develop the test. Should that work be successful, Bisignano said that the company could launch FertilityMap for research use by the end of the year.

"While there are definitely genetic underpinnings [in fertility], and this is well established, they are not very well defined, in terms of being able to read a person's genome and determine at what risks she might be for various indications, whether its recurrent pregnancy loss or polycystic ovary syndrome," said Bisignano. "Even something like the ovarian response to hormones, which is a very common treatment, yet for which there is very little guidance on how the patients might respond."

The market for such a test arguably makes sense for Recombine, given its connection to Reprogenetics, as well as the fact that its advisory team includes Dagan Wells, an associate professor at the University of Oxford who has been an advocate of microarray-based PGD. But Bisignano also characterized the fertility field as "committed to research," making it a good project for the company.

"One of the things I love about fertility, is that it is a field where the doctors are open to running research studies to develop new diagnostics down the road," he said. Bisignano said that by October the company hopes to have analyzed 2,000 samples as part of a retrospective study, which will be combined with electronic medical records from participating clinics to inform a future test design.

But the company does not intend to stop there. Instead it will continue to leverage its array platform to develop complex diagnostics, while building out a next-generation sequencing platform for research purposes and, potentially, future testing.

"We want to be able to constantly run new studies, discover new things, and develop diagnostics," said Bisignano. He added that Recombine would like to offer next-generation sequencing as a follow-on assay for CarrierMap patients. While the firm has not yet selected the platform, Bisignano speculated that it could be an Illumina NextSeq 500 or Life Technologies Ion Proton system.