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Life Science Technologies Genomics 858 The Clinical Aspirations of Microarrays Although most microarray applications are currently researchuse-only, this technology appears poised to move to the clinic for genomics-based applications. In fact, some products can already be used in medical diagnostics and many more are in development. For example, microarrays can be customized to detect small, specific genetic changes that indicate a particular disease. In the future, this technology will likely remain a useful tool for both research and clinical applications. By Mike May ìUsing microarrays as tools in cytogenetics is really accelerating.î In todayís translational genomics research, says Seth Crosby, alliance director of the Genome Technology Access Center at Washington University School of Medicine in St. Louis, ìThe biggest challenge is interpretation.î Available technology makes it easy enough to collect information from someoneís genome. The tricky part comes in interpreting the clinical relevance of that information. ìThen, one can say a variation in a particular gene is known to have such and such impact on the patientís health or treatment options,î Crosby explains. As an example, Crosby describes a clinically certified next generation sequencing panel of 45 oncology genes offered by Genomics and Pathology Services, Washington Universityís clinical genomics laboratory. This panel is actively being used to profile tumors and guide the treatment of cancer patients. ìWe had to look at hundreds of papers,î Crosby says, ìto build a clinical-grade database of authoritative interpretations for each clinically relevant mutation found in these genes.î He adds, ìThat took hundreds of Ph.D. and M.D. hours, reading through papers to identify the pertinent information.î Crosby notes that, over time, clinicians might come to understand which changes in the genome impact a patientís health and which are harmless. ìOnce the lists of relevant and irrelevant genes are narrowed down, and we have a sense of which polymorphisms are important, these could be used to www.sciencemag.org/products create a very cheap array that would help detect diseases,î he says. Beyond being economical, microarrays also deliver manageable amounts of data. As Crosby explains, ìMuch of the genome is invariant.î So with microarrays, he says, ìWe collect only the data we need.î Developing Diagnostics In some cases, clinicians can link specific chromosomal defects with particular diseases, and microarrays bring new capabilities to this karyotyping, or counting and assessing the appearance of chromosomes. Down syndrome is one of the best-known examples, in which the person has an extra copy of chromosome 21. Although additions or deletions of entire chromosomes, and even defects in parts of them, can be seen under a microscope, microarrays reveal fine-detail changes in chromosomes. ìUsing microarrays as tools in cytogenetics is really accelerating,î says Andy Last, executive vice president of the genetic analysis business unit at Affymetrix in Santa Clara, California. When experts are asked in which areas microarrays are being used the most, many mention copy-number variationóthe addition or deletion of specific regions of DNA, particularly those with clinical consequences. ìThere are literally hundreds of syndromes [that have] chromosomal rearrangements associated with a particular phenotype,î says James Clough, vice president, clinical and genomic solutions at Oxford Gene Technology (Oxfordshire, United Kingdom). ìDepending on the population being tested, traditional karyotyping under a microscope provides a diagnosis about 5ñ8 percent of the time, and a microarray provides an 18ñ25 percent diagnostic yield. The resolution is far higher with an array.î Still, he adds, ìThe challenge is determining if a small aberration is pathogenic or nonpathogenic, or a variance of unknown significance.î Upcoming Features ProteomicsóMarch 1 Produced by the Science Fluorescence MultiplexingóApril 12 Proteomics: Maldi ImagingóMay 31 CREDIT: (FROM RIGHT) IMAGE COURTESY OF OXFORD GENE TECHNOLOGY; © ISTOCKPHOTO.COM/NANTELA
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