ROCKVILLE, Md.—Noting that the market for cancer diagnosticswas $4.8 billion in 2012 and is on track to reach $7.3 billion by 2017—given anaverage annual growth rate of 9 percent—medical and healthcare market researchfirm Kalorama Information says that cancer testing is "maturing frompersonalized medicine to precision medicine, where protein and molecularbiomarkers are essential for precise diagnosis, therapy selection, therapymonitoring and early detection of cancer recurrence."
That statement and the monetary projections are part ofKalorama's report titled "The World Market for Cancer Diagnostics, 5th Edition:Precision and Personalized Testing Arrives," which contains detailed marketdata on in-vitro diagnostic (IVD)products for their use in cancer diagnostics in the segments ofhistology/cytology, immunoassays, flow cytometry, rapid tests, molecularassays, tissue arrays, circulating tumor cells and molecularpharmacodiagnostics.
One of the more interesting developments in cancer testing,according to Shara Rosen, Kalorama Information analyst and author of thereport, is multiplex testing, which includes such technologies as bead arrays,electrochemical arrays, Invader, microarrays, SNP-it and WAVE—all of themtechnologies that have the flexibility to be used for clinical and researchapplications, she notes.
"The major companies—Affymetrix and Illumina—are developingclinical applications for their biochip and array platforms and haveestablished CLIA-certified labs to validate multiplexed assays for routineuse," Rosen says. "Finding the competition a bit too hot, and having othermolecular opportunities, Roche Diagnostics has decided to exit the microarraymarket. The company's NimbleGen product line is now distributed byPerkinElmer."
Rosen says that the goal for clinical biochips orlab-on-a-chip devices is to include sample preparation, injection anddetection, with all the work done in just a few minutes.
"Thus, biochips make a perfect match for the new wave oftests that rely on gene and protein expression patterns," Rosen notes, sayingthat for the purposes of the Kalorama report, "biochip" is meant to refer toall testing devices that involve multiplexed biosensors, microfluidics andmicroarrays. "The devices have evolved and have been developed to miniaturize avariety of diagnostic technologies—nucleic acid amplification and detection,chromosome analysis, immunoassays, mass spectrometry, flow cytometry andsequencing. Biochip technology is expected to have a significant impact onmolecular diagnostics, especially since several biochip instruments have beencleared for use for IVDs."
Some of those instruments include Affymetrix's GeneChipSystem 3000Dx v.2 and Transgenomic's WAVE Microchip Electrophoresis system.Several chip-based tests have come to market, Rosen adds, and several are used inlab services for cancer detection and therapy selection, with still more indevelopment.
"There are only five FDA-cleared molecular diagnosticproducts, of which three are for cancer diagnostics," Rosen notes. "Roche'sAmpliChip, Agendia's Mammaprint, Osmetech's cystic fibrosis test, Vermillion'sOVA1 ovarian-cancer test and Pathwork Diagnostics' Tissue of Origin test."
It should be noted that since the gathering of data for theKalorama report, Pathwork now seems to be defunct, and market-watchers notethat the future of the Tissue of Origin test is unclear.
Rosen also noted that Ipsogen SA (now known as QIAGENMarseille) is leading the way in CE-marked DNA microarrays for clinicaldiagnostics.
Ipsogen has built a portfolio 21 kits, of which 10 areCE-marked, Rosen says, since its founding in 1999, and it has developed andcommercialized "unique molecular tools for patient risk stratification, topredict patient response to treatment and to monitor minimal residual diseasefor hematological malignancies." From this proof of concept, she says, Ipsogenis now leveraging its expertise to address molecular diagnosis of solid tumors,such as breast and colon cancer.
Rosen also thinks the digital PCR (dPCR) space isinteresting right now, in part because dPCR has been shown to be better thanmany existing technologies at detecting subtle differences between samples withsimilar genomic structures.
"This is especially important in determining drug targetsfor pharmacodiagnostic testing and stratifying disease," Rosen says. "At thistime, no dPCR systems have been cleared for clinical diagnostics; they are usedin cancer research."
In 2006, she notes, Fluidigm introduced the first commercialsystem for dPCR based on integrated fluidic circuits, and in November 2010,Life Technologies commercialized a dPCR product line for the OpenArray system.In March 2010, QuantaLife—which was acquired by Bio-Rad Laboratories in October2011—was issued a patent for dPCR based on emulsions, leading to its dropletdigital PCR technology to convert a DNA sample into 20,000 1-nL droplets.TaqMan-based amplification takes place in each droplet, Rosen explains,followed by absolute quantitation of the number of copies of a gene target asthe individual droplets stream past a fluorescence detector.
"QuantaLife reported that its system is capable of detectingDNA targets with absolute quantitation," Rosen says. "Droplet digital PCR canachieve 10 times higher resolution and 25 times greater sensitivity thanconventional real-time PCR techniques, without the need for standards.According to QuantaLife, the system is the first cost-effective,high-resolution platform available for the validation of next-generationsequencing discoveries. It is easy to use, easy to automate and easy tointegrate into existing workflows in both life-science and clinical researchlabs."
The QuantLife products joined Bio-Rad's life-scienceresearch product line. But more than that, Rosen notes, in August 2012, Bio-RadLaboratories launched a Digital Biology Center to focus on the development ofnew products based on QuantaLife's droplet partitioning technology, with thefirst product based on this technology being the Bio-Rad QX100 Droplet DigitalPCR.
"In January 2011, RainDance Technologies announced that it,too, is developing a digital PCR system," Rosen relates. "RainDance'smicrodroplet-based RainStorm technology enables researchers to perform fullyautomated biological analysis in disease areas including cancer, infectiousdisease, immunology and genetic screening."