LYNDHURST, N.J., Aug. 30 A molecular diagnostictest that detects chromosome abnormalities associated with 85 developmentaldisorders affecting children now is commercially available from a nationaldiagnostic testing company, affording testing and reimbursement by leadinghealth plans across the U.S. Quest Diagnostics Incorporated (NYSE: DGX), thenation's leading provider of diagnostic testing, information and services,developed its ClariSure(TM) microarray-based comparative genomic hybridization(CGH) test to enable physicians to use results obtained from a single bloodtest to diagnose patients with mental retardation and dozens of otherdisorders, including Down, cri du chat, DiGeorge and Williams syndromes.
"Our ClariSure test is an important advance in diagnostic testingresulting from the Human Genome Project(1). This project gave us the map ofthe human genome and knowledge of DNA required to develop and commercializeour assay," said Charles (Buck) Strom, M.D., Ph.D., medical director of thegenetic testing center of Quest Diagnostics Nichols Institute, the esoterictesting laboratory and research and development center of Quest Diagnostics."Using today's conventional analytical techniques, physicians mayinadvertently miss the genetic cause of a patient's developmental disorder.Our ClariSure test is a powerful tool that physicians can use to produce anaccurate diagnosis more quickly."
The ClariSure test is a laboratory-developed assay that uses proprietarytechnologies from Nichols Institute as well as licensed methodologies.Scientists at Nichols Institute have validated the ClariSure test's ability touse a single blood specimen to identify chromosomal abnormalities associatedwith up to 85 developmental disorders. A positive result may be confirmedusing a licensed fluorescence in situ hybridization (FISH) methodology. Thecompany expects to provide test results from its ClariSure assay to physicianswithin five days of receiving a specimen at a Quest Diagnostics laboratory.
"While CGH microarrays often are used for research purposes, theconsiderable expertise and development required to commercialize thesetechnologies has limited their use for diagnostic testing," said JoyceSchwartz, M.D., vice president and chief laboratory officer. "Our ClariSureassay bridges the gap between scientific research and real-world testing,affording physicians with a faster technique for diagnosing patients suspectedof having a developmental disorder. With better diagnostic insights, parentscan provide their child with appropriate schooling and social support, andunderstand the likelihood that other offspring may have the same disorder."
Quest Diagnostics owns the intellectual property underlying its microarraytechnology, which is used to analyze information contained within anindividual's genetic makeup. CGH microarray technologies compare and contrasta specimen's DNA to the DNA of a healthy individual to identify, at a highresolution, extra or missing genetic material in the specimen. Thesetechnologies can detect a substantial proportion of additional abnormalitieseven in patients who have already had extensive cytogenetic and/orfluorescence in situ hybridization testing.(2) CGH microarray technologies arealso more efficient, as multiple FISH tests are required to generate the sameamount of information produced from one microarray-based test.
Quest Diagnostics' ClariSure test will be first introduced to physiciansat pediatric and children's hospitals, with an emphasis on pediatricians,geneticists and pediatric neurologists.
Future ClariSure Test Applications
Nichols Institute also is developing additional ClariSure tests toidentify chromosome abnormalities associated with hematological malignancies,such as Leukemia. The ClariSure test is able to detect abnormalities even ifcell division has yet to occur, which may enable it to detec