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Array Diagnostic Development Heats Up


Now in its ninth month, Baylor College of Medicine’s Prenatal Chromosomal Microarray Analysis service — the first of its kind — is just beginning to gain momentum, according to Arthur Beaudet, director of Baylor’s cytogenetics lab.

Beaudet, who also chairs Baylor’s Department of Molecular and Human Genetics, says that demand so far has been “relatively minimal, [but] it’s just starting to increase. I think we are doing something between two to four [analyses] per week right now.”

Baylor’s service makes use of array comparative genomic hybridization using bacterial artificial chromosomes to interrogate a sample of amniotic fluid for more than 65 genetic disorders. While many in the field agree that array CGH is well-suited for prenatal screening, some of Baylor’s commercial rivals believe its service is too much, too soon.

According to Mansoor Mohammed, CSO and executive vice president of CombiMatrix Molecular Diagnostics, “prenatal testing is an injustice to the rest of the [array CGH] community.”

CMDX has its own plans to offer a diagnostic service using array CGH, and will begin screening samples for constitutional changes in adult patients with mental retardation later this month. However, Mohammed previously said that there is not enough data available to support comprehensive array CGH-based prenatal testing.

“More genotype-phenotype associations need to be [made] before [array CGH] can be used in the prenatal arena,” Mohammed says. He adds that it is too soon to begin using an emerging technology like array CGH to counsel patients who could decide to terminate a pregnancy based on the analysis.

Others have voiced concern over Baylor’s CMA service, and the issue prompted a Nature editorial on the topic in the Dec. 8, 2005 issue of the journal. The editorial used Baylor’s case to specifically call for an increased regulatory presence in the area of microarray-based diagnostics.

— Justin Petrone

Short Reads

DNAVision has become a service provider for Eppendorf’s DualChip microarrays, which makes DNAVision the first European lab to provide services for low- to medium-density microarray testing.

The International Standards Organization has awarded Geneservice’s facilities its ISO 9001:2000 certification for functional genomic products and the conduct of contract research for academic and commercial customers. The Cambridge, UK-based company offers genotyping and gene expression services.

CombiMatrix Molecular Diagnostics has begun shipping its first diagnostic microarray product, a chip developed with Array Genomics that uses array CGH to detect copy number variations associated with both chromosome imbalances and imbalances linked to more than 40 defined genetic diseases and syndromes.

Scienion has launched the sciProclimate One climate chamber — which was developed by Ribocon, a Max Planck Institute for Marine Microbiology spin-off — that the company claims can provide constant temperature and humidity during the binding of capture molecules onto microarray substrates in the microarray production process.

Eurogentec has obtained a license for Oxford Gene Technology’s Southern array patents, which are the fundamental IP covering the manufacture, use, and marketing of oligonucleotide microarrays.


US Patent 7,033,757. Mutation scanning array, and methods of use thereof. Inventor: Gerassimos Makrigiorgos. Assignee: Dana-Farber Cancer Institute. Issued: April 25, 2006.

According to the abstract, the method described in this patent is directed to using a mutation scanning array to identify mismatches or polymorphisms in multiple genes or the same gene in multiple individuals. The array can be a chip or a microsphere and has elements containing immobilized oligonucleotides that collectively span at least 10 different whole genes.

US Patent 7,025,935. Apparatus and methods for reformatting liquid samples. Inventor: Aaron Jones and Brett Ellman. Assignee: Illumina. Issued: April 11, 2006.

This invention describes a compact and efficient format for liquid handling, which does not require active automation for transferring samples and which can be used to transfer fluid samples in the absence of an externally applied force. An apparatus or method of the invention can be used for reformatting samples when the array of source sample locations differs in shape or orientation from the array of destination sample locations.



CombiMatrix received $1.9 million from the US Army Research Office to develop a mini microarray reader for biodefense applications. Robin Liu, the PI on the contract, aims to develop a rugged, toaster-sized reader that costs only $20,000.


The Scan

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

With genetic data from two large population cohorts and summary statistics from prior genome-wide association studies, researchers came up with 27 exposure polygenic risk scores in the American Journal of Human Genetics.

US Survey Data Suggests Ancestry Testing Leads Way in Awareness, Use of Genetic Testing Awareness

Although roughly three-quarters of surveyed individuals in a Genetics in Medicine study reported awareness of genetic testing, use of such tests was lower and varied with income, ancestry, and disease history.

Coral Genome Leads to Alternative Amino Acid Pathway Found in Other Non-Model Animals

An alternative cysteine biosynthesis pathway unearthed in the Acropora loripes genome subsequently turned up in sequences from non-mammalian, -nematode, or -arthropod animals, researchers report in Science Advances.

Mosquitos Genetically Modified to Prevent Malaria Spread

A gene drive approach could be used to render mosquitos unable to spread malaria, researchers report in Science Advances.