Firm will submit cytogenetic testing system to FDA using pre-IDE process

High-throughput microarray technology used in cytogenetics research may soon have an FDA-cleared product for use by clinical pathology laboratories.

Array-based comparative genomic hybridization can perform the equivalent of hundreds or even thousands of fluorescence in situ hybridization (FISH)  experiments in one array. This technology has become the preferred method for molecular cytogenetics research. Recent advances in the technology are making the system appropriate for use by clinical labs and at least one manufacturer is taking steps to enter this market.

Digital Pathology

Illumina, Inc., (NASDAQ:ILMN) plans to submit its micro-array-based iScan technology—which includes the HumanCytoSNP-12 chip, the HumanOmni1-Quad and the KaryoStudio cytogenetic software—to the U.S. Food and Drug Administration (FDA), using the preliminary investigational device exception, or pre-IDE process.

The announcement was made by Greg Heath, Illumina’s Senior Vice President and General Manager of its diagnostics business unit. He was speaking during the January 14 Illumina 2010 R&D Day webcast for financial analysts.

“We will be migrating the iScan system into the clinical space and we will bring this through the FDA,” Heath said. “The pre-IDE submission allows us to start discussions with the FDA about intended use, structure of clinical trials and get some guidance from them about how we’re going to approach this.”

For Illumina, this is a change in its strategy to enter the clinical lab market. Previously, Illumina had positioned its digital microbead-based BeadXpress reader as the lead product for diagnostic and pathology laboratories. Heath said that Illumina sees an increasing migration from FISH-based technology to microarray technology. This shift in technology, observed Heath, is what prompted the strategy shift and the submission of the microarray technology to the FDA.

Array-based technology is already a big piece of the cytogenetics market. According to a June 2009 article in Genetic Engineering News, “In 2008, the U.S. array-based molecular cytogenetics market was estimated at $41.7 million; approximately one-third of the total U.S. molecular cytogenetics market.”

Heath said that Illumina expects that, by 2015, use of microarrays will catch up to FISH-based technology and represent fully 50% of the market.

The iScan system was launched in April 2008. and Illumina added its cytogenetics offering in November 2008, including the HumanCytoSNP-12 DNA Analysis BeadChip and the KaryoStudio cytogenetic software. All of these components will be part of the pre-IDE package Illumina intends to submit to the FDA.

Illumina is not the only company that sees potential in the array-based market. Numerous competitors offer these systems, including Agilent Technologies, Affymetrix, BlueGnome, Osford Gene Technology, and Roche NimbleGen.

For the clinical laboratories and pathology groups that want to stay on the leading edge of laboratory medicine, these early indications of a move to array-based cytogenetic assays underscores the need for an effective technology and capital investment strategy. As genetic testing becomes an ever-larger piece of the pathology business, one critical question will be when is the best time for a laboratory to investment in new diagnostic systems like these.

Related Information:

Illumina to Submit Cytogenetics Package to FDA, Commits to Using Arrays in Dx

Illumina Aims to Have FDA-Cleared Dx, CLIA Lab In ‘09; CEO Says Arrays Have Dx Future

Illumina 2010 R&D Day

Molecular Cytogenetic Tools: aCGH Technologies Are at the Forefront of Rapidly Growing Sector