Belgian molecular diagnostics firm Multiplicom said this week that it has been awarded €200,000 ($250,000) from the Flemish agency for Innovation by Science and Technology to develop a blood-based non-invasive molecular diagnostic test for fetal aneuploidy.
The test would use the same multiplexed endpoint PCR- and sequencing-based workflow as the other tests in Multiplicom's portfolio, including research-use-only diagnostic kits for breast cancer, colon cancer, and cystic fibrosis.
In addition, the Niel-based company is in the process of finalizing registration for obtaining the CE in vitro diagnostic mark for one of those existing assays, CEO Dirk Pollet told PCR Insider this week, although he declined to disclose which one.
"These were research-use-only kits that have been validated by the clinical genetics labs that are buying those tests," Pollet said. "We are working very diligently toward obtaining the CE [IVD] mark for the first product."
Multiplicom, a spinout of the University of Antwerp, received its first significant investment in May 2011, a €2 million financing that the company said would enable it to pursue CE marking for IVD use of its multiplexed PCR assays for clinical breast cancer and cystic fibrosis sequencing (PCR Insider, 5/5/2011).
Multiplicom relies on two core technologies for its assay development: a proprietary software tool called Multiplexer that enables in silico design of multiplex endpoint PCR assays; and a workflow that it calls multiplex amplification of specific targets for resequencing, or MASTR.
Using this software and workflow, the company can amplify multiple gene targets in a single-tube reaction, and then detect those amplified end products using "any massively parallel sequencing" protocol, Pollet said.
"It's validated on multiple platforms, and I think this is one of the strengths of our approach," he said. "Our customers do not need to purchase additional equipment. The hurdle to start using our products is very low. Whatever massively parallel sequencing [and PCR] equipment that they have will work with the tests that we are selling."
For the early aneuploidy detection assay, Multiplicom proposes to use fetal DNA samples isolated from the mother's blood to identify copy number variations of chromosomes 21, 18, 13, X, and Y. Such variations cause genetic diseases like Down syndrome, Edwards syndrome, Patau syndrome, triple X syndrome, and Klinefelter syndrome.
Multiplicom is hoping that its assay can replace the approximately 250,000 invasive procedures such as amniocentesis and chronic villus sampling performed annually in Europe.
Several companies and academic groups are exploring other molecular biology techniques, such as next-generation sequencing and digital PCR, to achieve the same ends. However, for an assay to replace current invasive testing procedures it would need to be cost-effective, an area where Pollet believes Multiplicom competes well.
Although he declined to disclose specific pricing, he said that the company believes the cost of its MASTR method will be lower than other options. "There are some excellent methods out there already, but in order for them to be used on a large scale, we think the price needs to come down and the method needs to be simplified," he said. "That's exactly what we're doing in our approach. It's a simpler method that is very efficient and therefore can be offered at a very competitive price."
Amniocentesis and CVS currently cost between $1,400 and $1,700 per procedure. NGS-based aneuploidy tests that have recently entered the market range from $795 for Ariosa's Harmony Prenatal test to $2,700 for Sequenom's MaterniT21.
Multiplicom said that it will conduct multiple validation studies of its aneuploidy test in collaboration with hospitals throughout Europe, the same strategy that it has employed for its other MASTR-based molecular diagnostics. The company said that it aims to make the test available to all accredited genetic labs in Europe.
"We are focusing on the European market, and in Europe, the concept of central laboratory testing, as it exists in the US, doesn't really exist," he said. "In the US you could have a service lab for [the entire] continental US. In Europe, that type of central lab system just doesn't exist. So rather than offering a service, we want to sell a diagnostic kit that can be used by any genetics lab that is qualified to perform this type of analysis."
Pollet did not provide a timeline for commercialization of the test.
Multiplicom's current investors include Belgian VC Gimv and Gimv-managed fund Biotechfonds Vlaanderen; as well as life sciences research institute VIB and the University of Antwerp. Pollet said that the company sold approximately $1 million worth of its RUO assay kits in 2011.
The company has no immediate plans to tackle the North American market, and will likely do so "only provided that we find a partner," Pollet said.