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CombiMatrix Launches Autism Risk Diagnostic


Having completed the clinical validation of its ATScan test for autism spectrum disorder, CombiMatrix announced in December that it would make the technology available through its CLIA labs.

CombiMatrix says that the launch of the microarray-based test is timely since it follows the American Academy of Pediatrics’ recently updated guidelines recommending all children be screened at least twice for autism before the age of two.

CombiMatrix CEO Amit Kumar says the company is currently evaluating whether to submit the test to the US Food and Drug Administration for approval.

“It’s well known that if you start treatment, counseling, education, social interaction types of things, with autistic children early then you lessen their symptoms,” he says. “So if you know that a child of one or two years old has a high probability of becoming autistic, then that child can be monitored very quickly and closely, and a number of programs can be begun with that child so that the symptoms can be lessened throughout his or her life.”

Current screening methods to diagnose autism involve a number of cognitive tests that physicians administer after a child begins to demonstrate symptoms of the condition.
“Physicians who deal with these things are very aware that early intervention is important,” Kumar says. “What they don’t have are good objective tests, like [the one CombiMatrix has launched], to determine predisposition.”

CombiMatrix’s ATScan, based on bacterial artificial chromosome array, comparative genomic hybridization technology, detects known genomic copy-number variations associated with ASD. The company launched the test in partnership with Steve Scherer, director of the Centre for Applied Genomics at the Hospital for Sick Children in Toronto, who recently correlated the SHANK3 gene on chromosome 22q to autism susceptibility. The results of Scherer’s study were published in the American Journal of Human Genetics in December.

 — Turna Ray

PGx & Molecular Dx Notes

The US Food and Drug Administration cleared a Becton Dickinson DNA-based blood test for Staph aureus and methicillin-resistant Staph aureus. The test will enable physicians to make earlier diagnoses of these infections, which the firm believes will significantly reduce healthcare costs.

Genomic Health’s predictive breast cancer assay has been included in the National Comprehensive Cancer Network’s 2008 Breast Cancer Treatment Guidelines. Late last year, the American Society of Clinical Oncology also recommended the test.

New York State health officials approved a prenatal test from Sequenom for cell-free fetal nucleic-acid assessment. The lab-developed test, performed on a real-time PCR platform, is designed to detect Rhesus D incompatibility.


3.4 thousand

Third Wave Technologies enrolled 3,400 subjects in a clinical trial involving its two human papillomavirus tests.

Funded grants

Development of Molecular Probes for Biomedical Applications
Grantee: Weihong Tan, University of Florida
Began: Mar. 1, 2007; Ends: Feb. 28, 2011
Tan will work with aptamers, a new class of designer nucleic acid molecules that hold potential in elucidating disease mechanism or analyzing biomolecules. The team has developed a novel cell-based selection technique to generate a group of aptamers for the specific recognition of individual cells without prior knowledge of the potential biomarkers for the cells.

Integrated Technology for microRNA-based Diagnostic Assays
Gary Latham, Ambion Diagnostics
Began: Aug. 1, 2007; Ends: Jul. 31, 2008
Latham aims to improve cancer diagnostics by establishing feasibility for a quantitative molecular diagnostics technology based on the detection of microRNA in clinical samples, according to the grant abstract. The work will start with a focus on prostate cancer to optimize procedures for the extraction and detection of miRNA from clinical samples.

The Scan

LINE-1 Linked to Premature Aging Conditions

Researchers report in Science Translational Medicine that the accumulation of LINE-1 RNA contributes to premature aging conditions and that symptoms can be improved by targeting them.

Team Presents Cattle Genotype-Tissue Expression Atlas

Using RNA sequences representing thousands of cattle samples, researchers looked at relationships between cattle genotype and tissue expression in Nature Genetics.

Researchers Map Recombination in Khoe-San Population

With whole-genome sequences for dozens of individuals from the Nama population, researchers saw in Genome Biology fine-scale recombination patterns that clustered outside of other populations.

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.