By Kirell Lakhman

A German clinical diagnostic lab in January will begin offering four assays that run on Roche 454's GS FLX and GS Junior next-generation sequencing platforms, the lab's director told me today.

Hanns-Georg Klein, director of the Center for Human Genetics and Laboratory Medicine, said the lab will soon begin validating the assays, whose initial indications will be for cardiovascular, connective tissue, and neuropsychiatric disorders that involve between 20 and 100 genes, as well as HLA typing.

CHGLM's decision to invest in the tools, on which it initially expects to run as many as 50,000 patient samples annually for the HLA-typing indication alone, could — and should — add pressure to US-based clinical labs to invest in similar platforms.

It can also embolden labs seeking to extend their market reach overseas by forging international collaborations. As I reported Tuesday, LabCorp and Quest either currently, or soon hope to, have a presence in countries such as Canada, Belgium, France, Singapore, China, Brazil, India, Ireland, Mexico, Puerto Rico, and the UK, some through the help of international partners.

Germany is not on that list, and CHGLM's plan to offer next-gen sequencing-based clinical tests could offer collaborative opportunities for intrepid clinical labs. The country, whose economy is the largest in Europe and the fourth-largest in the world, has a robust clinical-testing market and a rapidly ageing Baby Boomer population — a potentially lucrative combination.

'Absolute Accuracy'

CHGLM, based in Martinsried, was founded in 1998 as a spin-off from the university hospital Grosshadern in Munich. The lab and its sister company, IMGM Laboratories, today said they plan to use the 454 instruments to co-develop "workflows for targeted re-sequencing applications in the field of human genetics" — purely a research application.

But according to Klein, who is CEO of both CHGLM and IMGM, the lab in the next few weeks will finish developing the assays and will validate them over the next few months in time to launch them as clinical molecular tests in January.

"At the moment we are validating assays for connective-tissue diseases and cardiac disease," while in the near-term pipeline there is an assay for HLA-MHC-locus allele typing and a panel of neurological diseases, he said.

The validation phase will include "checking several pre-analytical procedures" of the 454 instrument, which it will perform via target re-sequencing using a Fluidigm multi-channel PCR platform, according to Klein.

The PCR products will then be run through the 454 sequencer "to ensure that whatever exons or whatever you're looking for can be found with absolute … accuracy," he said.

The lab will validate the 454 sequences with Sanger sequencing. If a mutation fails to surface on the GS FLX, "we would anticipate that this is a true result."

Klein said CHGLM also intends to pre-clinically test the assays on between 20 and 30 patients, and if the results are suitable the lab will begin offering the tests broadly in January.

He said he expects the lab initially to run between 100 and 200 samples of the connective-tissue, cardiac-disease, and neurological assays each month. The HLA assay, on the other hand, "totally depends on the bone-marrow registries." If they adopt these technologies "we could run up to 30,000 or 50,000 samples each year," he said.

"I think it has a great potential" — but at a huge cost. Klein reckons the cardiac and neurological disease tests will run around $10,000 apiece, while the HLA-typing assay would cost around $500.

"The question is whether [the tests] will be cost-effective," he said.

It wasn't immediately clear whether the lab currently runs assays for these indications or what platforms it uses.

According to Ralph Oehlmann, IMGM's director of business development, IMGM actually holds the 454 instruments in its third-floor facility. It will perform the initial test runs on them and design best practices, while CHGLM, located one floor above, will exclusively perform the clinical testing once the assays become available.

The instruments are "well under [CHGLM's] control," he said.

Oehlmann also said IMGM plans to develop and sequence samples to all comers, including clinical labs in the country that have been accredited to perform such assays in Germany.

Facilities in Germany that want to use IMGM's sequencing capabilities on patient samples must know how to draw sequences, design and validate the assays, and compare the 454 results with Sanger sequencing. Oehlmann said IMGM could help labs with some of these steps.

CHGLM is one such lab, and is actually an IMGM client through a contract that enables them to co-perform revenue-sharing R&D and clinical testing.

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