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German Genetic Testing Firm CeGaT Eyes International Markets, Developing Liquid Biopsy Assays


NEW YORK (GenomeWeb) – German genetic testing firm CeGaT has been gearing up to venture further into international markets, including the US.

Over the last half year or so, the Tübingen-based company has optimized its workflows for diagnostic panels and exomes, allowing it to reduce turnaround times and prices. It also brought in new sequencing instrumentation to increase its testing capacity and recently passed an inspection for CAP accreditation of its laboratory.

CeGaT, which stands for Center for Genomics and Transcriptomics, has grown to almost 120 employees, including six medical geneticists, more than 40 PhD-level molecular biologists, and more than 10 bioinformaticians. Two years ago, the company moved into a new building near the campus of three Max Planck research institutes, with approximately 11,000 square feet of lab space. In 2015, CeGaT had approximately €12 million ($13.6 million) in revenues, and about 20 percent of its current business comes from outside its German core market.

The company focuses on gene-based diagnostics of rare inherited diseases. It currently offers about 190 diagnostic subpanels in 18 disease areas, including hereditary cancer, as well as array-CGH, clinical trio exome sequencing, and more than 650 single-gene tests.

Three years ago, the privately owned firm also entered tumor diagnostics, offering a 650-gene tumor panel that includes select translocations, as well as a tumor exome. Both assays include analyses of tumor tissue and matched normal samples. In addition, CeGaT offers amplicon-based BRCA1 and 2 germline and tumor sequencing. Tumor testing has been a "nicely growing business" for the firm and currently accounts for about 10 percent of its revenues, according to co-CEO Dirk Biskup.

Reimbursement for CeGaT's next-gen sequencing-based tests from Germany's statutory health insurance system has been difficult, although recent changes to the catalog of reimbursable human genetics services that will take effect this summer are "a step in the right direction," he said.

Nevertheless, the company will continue to target international markets and has been taking steps to improve its competitiveness abroad. "We cannot be dependent on the German market, that will kill us," said CeGaT co-CEO Saskia Biskup, who also runs a medical genetics practice in Tübingen. 

An important step in the process has been to obtain laboratory accreditation by the College of American Pathologists. CeGaT's lab recently passed its CAP inspection, with no deficiencies, and is currently waiting for its CAP certificate to arrive. "With this certificate, we're in a good position to go anywhere," including the US, Canada, and Saudi Arabia, she said. With CAP accreditation in hand, CeGaT will also pursue CLIA certification, she added.

Through automation of its testing pipeline and other improvements, the company has also been able to significantly reduce its prices. CeGaT's diagnostic panels, which sequence between 20 and 400 genes and usually analyze a subset of these, now range from €1,200 ($1,360) to €1,900, down from between €2,500 and €3,000 three years ago. The company's clinical trio exome costs €2,500.

Turnaround times for diagnostic panels and trio exomes are now four weeks, and two to three weeks for single-gene tests. For comparison, GeneDx, a US competitor, states a turnaround time of eight to 12 weeks for its XomeDx exome test, but it also offers a rapid exome test called XomeDxXpress that provides a verbal result within seven days and a final report in two weeks. CeGaT also offers fast-paced versions of its exome, panel, or single-gene tests for critically ill patients that use separate pipelines and deliver results within days or weeks, Dirk Biskup said.

On the sequencing instrumentation side, CeGaT has brought in Illumina's HiSeq 4000, joining the company's other three HiSeq 2500 sequencers, which has boosted its capacity to at least 1,000 gene panels and 1,000 exomes per month. It also employs the Illumina MiSeq, for example for BRCA1/2 testing, but no longer uses the Ion Torrent PGM.

CeGaT would like to contribute its variants to databases like ClinVar but has not done so yet for logistical reasons. "For the amount of data we produce every day, we cannot do this by hand, so we need pipelines," Saskia Biskup explained. But the firm has no budget to build these on its own and is thus waiting for ClinVar to provide the necessary infrastructure. "We would be willing to bring data into such a consortium at any time," she said. 

The company also has plans to establish a laboratory abroad. Two years ago, CeGaT and B. Braun, its investor and minority stakeholder, opened a subsidiary in Bethlehem, Pennsylvania, to promote CeGaT's assays in the US. While the US team has been working on getting the word out about CeGaT, the company has not been able to accept clinical samples from the US yet due to the missing CAP accreditation and CLIA certification. With those in hand, the firm plans to enter the US market shortly. It is also looking into a number of options for opening a US lab in the near future, Dirk Biskup said.

Looking ahead, CeGaT is developing new types of assays, including in the competitive field of cell-free DNA or liquid biopsy testing. "Cell-free tumor DNA is going to be a huge market," Saskia Biskup said, noting that the firm is "not afraid of any competition."

In the context of clinical research, CeGaT has already been developing personalized cancer monitoring assays for patients who had their tumors sequenced. These highly sensitive assays, which rely on digital PCR, look for specific mutations, she said.

In addition, CeGaT researchers have found that some cancer patients harbor large amounts of cell-free tumor DNA in their blood, allowing the scientists to perform panel and exome sequencing to detect new mutations.   

While it is too early to offer cancer liquid biopsy tests routinely, CeGaT plans to commercialize them in the future, she said.

Outside of genetic disease testing and tumor diagnostics, the company has spun off a number of subsidiaries in collaboration with others.

Last year, CeGaT co-founded noninvasive prenatal testing firm Cenata, which operates independently of its parent but is housed within CeGaT's facility. A year ago, Cenata started running Roche Ariosa's Harmony test, the first external laboratory to do so.

Also, two years ago CeGaT and a number of academic researchers founded CeMeT, short for Center for Metagenomics, which provides metagenomic analyses and recently kicked off a large gut microbiome project in Germany. CeMeT currently shares space, instrumentation, and some staff with CeGaT.

Another 2014 spinout , CAG, or Center for Animal Genetics, which CeGaT founded with DW Sportpferde, promises to develop genetic tests for horse, dog, and cat breeding.