While most genotyping plays have decided to diversify their positions or abandon the segment altogether, a little-known instrumentation firm is betting its future on its novel mutation-detection platform.
Though it occupies this space largely out of necessity — plans to expand into proteomics, gene sequencing, and forensics are stalled due to the soft market — the small company, SpectruMedix, has already signed on an impressive roster of genotyping customers from big pharma, big tools, and government.
“The technology we have … is an opportunity to make this a very successful venture,” said Paul Newman, director for sales and marketing for the Colleg Park, Pa.-based company. “We have some advantages [over other companies] and are able to do things others aren’t able to do.”
Cynics would say that Orchid and Variagenics entertained similar ambitions only to encounter some very bumpy crossroads. Supporters would say that the departure of these and other firms from the SNP-genotyping space has left a perfect void for new technologies to fill.
“There is no other technology that I’m aware of that can do heteroduplex-mutation detection [and] screening with the throughput that’s available on this unit,” said George Grills, director of sequencing of the Harvard-Partners Genome Center. His lab has agreed to beta-test a new 384-capillary instrument for sequencing, genotyping, heteroduplex-mutation detection, and PCR quality control. “In general it’s a promising technology, otherwise we wouldn’t have started the beta test,” Grills told SNPtech Reporter.
Founded in the 1960s as a spin-off from Penn State, SpectruMedix, known at the time as Nuclide, originally sold mass spectrometers to the life-science community. In the early 1990s the company was bought by Premiere American Technology, which eventually changed its name to SpectruMedix. Though at that time the company was selling mass spectrometers, it acquired a license to a technology that allowed it to perform multi-capillary mutation detection. This platform, which SpectruMedix calls Reveal, has been the company’s backbone ever since.
According to Newman, the technology, which is based on temporal gradient capillary electrophoresis, can be used for any kind of fluorescence detection, including genotyping. “One of the things that makes this type of technology useful is you don’t [have] to have any prior knowledge of the DNA sequence you’re genotyping,” he said. “All you need is to be able to start with some PCR fragment and you’ll be able to do mutation detection without doing any kind of GC-clamping — [and] without doing any kind of analysis on melting temperatures, or anything like that. So ... the upfront work that is necessary is really very small.”
So far, SpectruMedix’s instruments have found homes at a modest number of large private-sector vendors, big pharma, and academic and governmental labs, including Oak Ridge National Labs, Pharmacia, Orchid Biosciences, and Applied Biosystems. In fact, last month, SpectruMedix and ABI signed a cross-licensing agreement that allowed SpectruMedix to use the Reveal platform to perform gene sequencing as well as genotyping, according to Newman.
“With our ability to do sequencing, people will buy the instrument as a genotyper knowing that they can also do sequencing on it, even though they may never do that,” Newman said.
In exchange, ABI got its hands on a technology that allows it to perform direct on-capillary detection. The platform also ensures that ABI’s 3730 sequencers work. However, Newman stressed that the capillary-detection license it awarded ABI is different from the method used by SpectruMedix. “We had several different ways of doing the direct detection,” he explained. “We chose the one we wanted and licensed the other one to [ABI].”
… Beget Mutations
Five years after being acquired by Premiere American Technology, SpectruMedix, which had been trading on Nasdaq’s over-the-counter exchange, was bought by a private investor and its shares pulled from the market.
Around that time, the company had been considering reentering proteomics and dabbling in gene sequencing and forensics. Soon, the biopharma marketplace dried up and SpectruMedix decided that genotyping was its strongest suit. Eventually, the soft life-science market and a down economy took their toll, forcing SpectruMedix to cut its staff to 35 (Newman wouldn’t say how many people the company employed before the layoffs). The last layoffs were in November 2002.
Today, the non-genotyping disciplines have been relegated to the back burner until better days come round. “But we’re not actively putting focused efforts into further application development or anything like that. Most of our effort right now with development and marketing is going into the Reveal mutation-detection market,” Newman said.
He explained that when the capital markets return SpectruMedix will likely relaunch its proteomics platform ahead of any forensics play. But, he added: “In a lot of ways the Reveal is a good instrument right now for some forensics. For other forensics applications, it “still needs some work. Where we fall short is in the ability to do very good [crime-based] case samples.”
Newman said SpectruMedix isn’t ruling out crime-grade forensics in the future. “It’s a whole different set of rules that you have to do to interpret that kind of data,” he said. “We have not been validated yet, [but we’re] looking to be.”
Currently, SpectruMedix has “some” mitochondrial and data-basing customers. In fact, Orchid, which has banked its own future on a renaissance in the forensics space, uses a pair of SpectruMedix capillary-electrophoresis systems in its paternity-testing facilities in Dallas and Dayton, Ohio, according to Orchid spokeswoman Tracy Henrikson. Though these systems are based on conventional STR analysis rather than SNP detection, Orchid expects soon to deploy its own SNP technology for paternity testing, Henrikson added.
In the end, Newman stressed that the ability to do multi-capillary temperature-gradient electrophoresis is “something that we have the edge on right now. And we can own that market.”