Skip to main content
Premium Trial:

Request an Annual Quote

Illumina Plans New Preimplantation Genetic Diagnosis Array as Part of Reproductive Health Push


This article has been corrected to reflect that Illumina will seek Chinese FDA approval for a MiSeqDx-based NIPT assay, not a HiSeq2500-based assay, as previously reported.

NEW YORK (GenomeWeb) – Illumina will later this year launch a new array for use in preimplantation genetic diagnosis.

Tristan Orpin, general manager of the company's newly formed reproductive and genomic health business unit, said during a webcast presentation at Illumina's recent investor day event that the firm will introduce the 12-sample karyomapping array later this quarter.

The array has been developed within BlueGnome, the Cambridge, UK-based company that Illumina acquired in 2012. BlueGnome's current PGD offering, 24sure+, relies on another array to investigate subchromosome imbalances in embryos of reciprocal translocation carriers. The firm has positioned its offering as an option for couples undergoing the in vitro fertilization process due to recurrent miscarriage thought to be caused by the presence of a balanced translocation in either parent.

According to Orpin, the CytoSNP karyomapping product will allow users to process 12 samples on the same chip and should enable "rapid PGD determination." He noted that the new tool will rely on BlueGnome's existing BlueFuse software, the same software platform used by its other microarray- and sequencing-based applications for reproductive health.

"Everything across the continuum of products of RGH will tie into BlueFuse, [which is] designed for needs of the clinical environment," said Orpin.

Illumina's new reproductive and genomic health unit draws upon the technologies and expertise of BlueGnome as well as Verinata Health, the non-invasive prenatal testing provider that the company acquired last year. Orpin portrayed both acquisitions as part of the company's plan to "build a continuum of products that supports the entire needs of the reproductive health and genetic health and disease testing markets."

One market opportunity Orpin addressed in his talk was the preimplantation genetic screening market. Unlike PGD, which assesses a specific embryo for a known pathogenic anomaly, the company's 24sure product for PGS allows the screening of all 24 chromosomes prior to implantation during an IVF cycle.

Orpin acknowledged that Illumina has penetrated about 3 percent of the potential market for PGS, but he noted that 90 percent of testing that is done today is done using BlueGnome products, and that the company's PGS business has experienced 60 percent year over year growth.

To continue that growth, the company has integrated BlueGnome's sales force into a larger team focused on reproductive health. And another product is in the pipeline, too. In the second quarter, Orpin said that Illumina will launch an assay called VeriSeq for PGS. According to Orpin, the new test runs on both the company's MiSeq and NextSeq platforms, and should be viewed as an "adjunct and addition" to current methods. At the same time, hinting at its potential to replace array technology, he noted that the assay is less expensive and easier than array-based methods, and that the "analytical performance is absolutely beautiful."

Orpin also took time in his talk to address the NIPT market. In addition to Verinata Health, all of the players in that market, which include Sequenom, Ariosa Diagnostics, Natera, and others, rely on Illumina's sequencing platforms to support their tests.

Orpin stressed that these Illumina "customers are not our competitors," and said that the NIPT market is "enormous," noting that if NIPT could be marketed to expecting mothers at average risk of giving birth to children with certain known genetic conditions, the NIPT market size could "go up six fold" from its current estimated size of $1.5 billion derived from testing women considered to be at high risk.

To grow the NIPT market, Orpin said that Illumina would later this year file a HiSeq2500-based NIPT assay with the US Food and Drug Administration and obtain a CE Mark for the test. He also said that the company plans to have its MiSeqDx instrument cleared in China, ahead of submitting an NIPT assay that would run on the benchtop system.