“The Omni 2.5 and Omni 5 are the most complex chips in the market today, containing 2.5 and 5 million markers, respectively,” states Jay Flatley, CEO of Illumina. These arrays, derived from the Thousand Genomes Program, will reportedly permit screening for rare variants, providing quality data through robotic automation. “The 2.5 array is a whole new generation that will get at human variation at a much deeper level than was historically possible.”
Illumina is also in the process of submitting its products for FDA approval, including chips for cytogenetic analysis. Flatley believes that the market is moving toward arrays of much higher complexity, and this is reflected in the FDA’s evaluation process. The rapid pace of development has spurred the agency to work with industry to develop appropriate regulations governing these advanced technologies.
The new cytogenetic arrays are revolutionizing clinical cytogenetics, and in three to five years, the vast majority of these studies will be done with arrays, and only a small fraction of specialized tests will be carried out with traditional karyotyping platforms. This is reflected in a recently released set of guidelines from the American College of Medical Genetics, changing the standards of care for application of SNP-based cytogenetics. The new technology is less labor-intensive, faster, and more accurate. While this will mandate retraining for professional cytogeneticists, it clearly will provide greater accuracy, speed of analysis, and cost-savings.
Pharmacogenetic markers are also an expanding area of microarray analysis. These markers are already providing better predictive accuracy in disease association including diabetes and prostate cancer for which there are many putative markers under scrutiny.
“While some of this data does not currently provide patients and their physicians with clear options for treatment, the bulk of knowledge is rapidly expanding, and in the near future microarray descriptions of patients profile will be much more informative,” says Flatley.
These advances are requiring updating and retraining for physicians, as well as cytogeneticists. “The new technologies are complex and until arrays are more widely adopted, it will be necessary to work with physicians to educate and inform them regarding the tests that they are already prescribing.”
Array technology operates on the basis of collaborative effort, which may involve clinicians, research scientists, and software designers. The companies profiled in this article have programs designed to advance drug discovery through large-scale interactive programs that bring together diverse groups of scientists searching for a common goal. Given the scope of these studies, it is clear that successful drug discovery will be predicated on this coordinated response.