SALT LAKE CITY Signature Genomic Laboratories, a 2-year-old Spokane, Wash.-based venture that offers testing for chromosomal abnormalities using array comparative genomic hybridization, has upgraded its flagship product and is eyeing expansion into such areas as prenatal testing, according to a company official.
The official also said the company is playing with the idea of setting up Signature Genomic "franchises" within clinical labs so that the company can make sure its product is used correctly, but still give the market what it wants.
Lisa Shaffer, the firm's co-founder and scientific director, told BioArray News at the American Society of Human Genetics conference held here last week that Signature has just added 20 clinically relevant loci to its Signature Chip, as well as about 140 clones.
The addition of the features to the company's flagship microarray could strengthen the technology's potential in the marketplace, Shaffer said.
"We just added those clinical loci in late October," she said. "We were offering 126 clinical loci [and] 831 clones. Now its 145 [loci] and 976 clones."
In addition, Shaffer said that the company is upgrading its offering all the time. "We have a really flexible format" that can add clones as they are deemed clinically relevant, she said. With those clones, Signature can broaden its diagnostic services, treat its chip as a homebrew test under US Food and Drug Administration guidelines, and validate all results with fluorescence in situ hybridization.
"What we do is keep on top of genetics literature to see if clinical syndromes have been identified to be chromosomal in origin. We can quickly add those."
"I don't want to be the one that's dealing with a customer that says 'your chip doesn't work' and having to tell them, 'well it works, you're just not doing it right.' I don't want to have to troubleshoot 300 labs in the country."
Shaffer said that Signature Genomics is specifically concerned with "building higher density on all the telomeres and pericentromeric regions because those seem to be regions more susceptible to genomic changes."
The 26-employee company is also using input from clinicians to enhance the array they use to detect chromosomal alterations in patients. The only qualifier is that the patient must be diagnosed with a condition in which there is a chromosomal deletion, not a mutation.
"There has to be cases of deletion identified because our array will not identify mutations, it's just deletions or duplications. So if it makes clinical sense then we put it on," Shaffer said.
Growth and Challenges
While the upgraded Signature Chip is symbolic of Signature Genomic Lab's effort to stay competitive in a field that now includes Spectral Genomics, NimbleGen Systems, Vysis, and Agilent Technologies, Shaffer said that the company's model so far has been working well.
"Our growth in our laboratory is exponential," she said. "If you look at the growth curves and the number of cases we are receiving, it goes up every month. People understand the value of this test, especially when they get back an abnormal result. Our hit rate is so high 6 percent that's really high when you consider what these kids have already have regarding diagnostic testing."
However, while business has been good the number of samples tested has increased by nearly 70 percent over the past five months the company's co-founder and scientific director admits that Signature is feeling pressure to move its business out of Spokane and into more cytogenetics clinics.
"The majority of cytogeneticists don't want to send samples [in]; they want to do it too. And so Signature is investigating various ways that perhaps we can enable other laboratories to do these tests," Shaffer said last week.
She said that the company is considering creating Signature Genomic "franchises" within clinical labs in order to ensure that its product is used correctly while still providing the market what it wants.
Shaffer is hesitant to relinquish control of her company's product, mostly due to what she calls "end-user error."
"I don't want to be the one that's dealing with a customer that says 'your chip doesn't work' and having to tell them, 'well it works, you're just not doing it right.' I don't want to have to troubleshoot 300 labs in the country," she explained.
It is for these reasons that Signature Genomic will keep its chips in its labs, rather than sell them to clinical labs like rival Spectral Genomics has. However, Signature is certainly familiar with Spectral's model. Shaffer used to work at Baylor College of Medicine with the scientists that eventually launched Spectral.
Spectral offers its Constitution Chip for testing for chromosomal disorders, and it recently got its foot in the door at LabCorp when the reference lab giant chose Spectral's chip for its new arrayCGH service last month (see BAN 9/28/2005).
While officials from LabCorp said that they may use other arrayCGH chips in the future Paul Billings, vice president and national director of genetics and genomics, told BioArray News last month that "it very well may be that other providers later on make more sense" the reality is that there is a real marketplace out there and Signature Genomic Labs may eventually decide to sell chips.
Shaffer said that "if, and that's a big if, [Signature] were to go with a model where [it] sold chips, [it] would license another company to make chips and have them deal with all the technical support."
"My goal for Signature is not to do 300,000 cases a year. That's not my goal. My goal is to do a good number of cases so we can learn about the technology, and then concentrate on R&D to bring the technology to the next level," she said.
One area that Shaffer said she believes could benefit from arrayCGH is prenatal screening. In February 2006, the director will speak at a conference for the Society for Maternal and Fetal Medicine in Miami. She insists that arrayCGH is "absolutely not ready for prime time" with regards to prenatal testing for chromosomal disorders in unborn children, but said that Signature "is eventually going to do prenatal diagnostics."
How soon is "eventually"? Shaffer declined to comment on a time line, but said that Signature Genomic Labs has "enlisted two different centers that do a lot of prenatal procedures" for a pilot study scheduled to begin in January 2006. The centers will provide Signature with samples so they can develop their prenatal testing methodology.
"These are two very large prenatal centers and so we should be able to quickly gather the data before we proceed," she said.
Shaffer, however, cautioned about what may come out of the study. "We are taking a very responsible approach," she said. "We want to do some pilot studies, [but] we want to make sure that we are giving back clinically relevant information and that we are causing no anxiety or at least minimizing anxiety."
Shaffer declined to name the two pre-natal centers
Justin Petrone ([email protected])