Signature Genomics this month launched its Precision prenatal testing panel, designed to detect 15 common and severe chromosomal disorders, which the company will market to women undergoing invasive testing for advanced maternal age or parental concern, according to its president and cofounder.
The company has also expanded its menu of oncology testing services, which it began offering last year.
In a statement last week, Signature said the new prenatal testing panel is "designed for pregnant women undergoing amniocentesis or chorionic villus sampling [and] who have been determined by their physicians to require specialized screening due to clinical or parental factors."
The panel tests for Down syndrome, trisomy 18, DiGeorge syndrome, Miller-Dieker syndrome, Prader-Willi syndrome, 1p36 microdeletion, and Wolf-Hirschhorn syndrome, among others.
The launch of the test comes at a time when Signature faces competition in the prenatal testing market from rivals like Baylor College of Medicine and CombiMatrix Molecular Diagnostics.
Lisa Shaffer, the firm's president, told BioArray News that Signature decided to augment its prenatal testing services with a focused panel designed to serve physicians who desire more information than traditional karyotyping yields, but less than what is generated by Signature's whole-genome, array comparative genomic-hybridization approach.
"Our arrays were designed for pregnancies with abnormal ultrasound findings in accordance with the recent committee opinion" published by the American Congress of Obstetricians and Gynecologists, Shaffer said.
ACOG released a committee opinion in November 2009 regarding prenatal microarray testing, endorsing chromosomal microarray technology as an "appropriate adjunct to routine karyotyping in pregnancy."
Still, "there are many more women undergoing invasive testing [whose physician] may desire a test that provides more information than what is achieved with karyotyping alone or karyotyping in conjunction with a [fluorescent in situ hybridization] aneuploidy screen, but do not want as much information as what can be found by microarray analysis," she added. The Precision panel "is an excellent balance for women undergoing invasive testing for [advanced maternal age] or parental concern."
Shaffer said that Signature has seen demand for its "prenatal array [assays] continue to increase each year," and earlier this year released an online tutorial describing how to submit a sample to the company.
PerkinElmer last year paid $90 million to buy the Spokane, Wash.-based company, which has offered since 2007 prenatal genetic testing on its oligonucleotide and bacterial artificial chromosome array platforms (BAN 11/11/2008 and BAN 4/20/2010).
Unlike Signature's other prenatal testing offerings, the Precision panel is not run on Signature's traditional microarray platforms. Instead, it is performed using a technology called BACs-on-Beads, made available to Signature through PerkinElmer.
PerkinElmer developed the BACs-on-Beads approach based on technology it gained when it bought Houston-based Spectral Genomics in 2006. The technology, which runs on the Luminex platform, relies on BACs immobilized onto encoded beads that assay chromosomal gains and losses from samples in 96-well plates.
"We used that technology … to make our own test," said Shaffer, referring to the Precision panel. The assay "was designed, manufactured, and validated at Signature Genomics," she noted, adding that Signature had said last year it intended to launch other tests based on the BACs-on-Beads platform (BAN 6/22/2010).
Shaffer said the new panel can test for 15 syndromes because the BACs-on-Beads platform "supports 100 unique beads. We have two to six beads per syndrome [so] we could support 15 microdeletion syndromes and the five chromosomes to check for aneuploidy."
Though the Precision Panel is new, Shaffer said initial market reaction has been positive. "So far, the market understands the needs and desires of women who are at fairly low risk, yet [are] undergoing an invasive test," she said.
Oncology Testing Play
While Signature expands its prenatal offering, it has also been adding to its menu of oncology testing services. Last year, the company began offering services on its OncoChip array, a 350,000-probe CGH microarray manufactured by Roche NimbleGen that Signature analyzes with its internally developed Oncoglyphix software (BAN 6/22/2010).
In February 2010 Signature rolled out testing services for chronic lymphocytic leukemia and myelodysplastic syndromes. And three months later it began marketing OncoChip for chronic myeloid leukemia and myeloproliferative disorders.
Shaffer said this week that the company now offers 10 different oncology offerings, including an array to detect copy gains and losses and nine panels designed to detect balanced translocations based on the indication.
According to Signature's website, its oncology-themed menu includes a copy number evaluation panel; translocation assessment panels for acute myeloid leukemia and myelodysplastic syndromes, B-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, chronic myelogenous leukemia, and T-cell acute lymphoblastic leukemia; HemEssential, a translocation-assessment panel for multiple diseases; and panels designed to determine the progression of myelodysplastic syndrome and prognose acute lympholastic leukemia and acute myeloid leukemia in patients who have a normal karyotype.
"We are rolling them out in stages," Shaffer said last year of the firm's oncology tests.
While all of the assays run on the same OncoChip design, Signature validates the applicability of each diagnostic before making it available as a service.
"We want to do at least 30 cases of each disease before we roll out the service, so it’s taking us time to validate each disease," she said in June.
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