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GATC Biotech Launches One-Week Diagnostic Exome, but Clinical Interpretation is Pending


Aiming to get a foothold in the emerging clinical next-gen sequencing market in Europe, GATC Biotech of Germany earlier this month launched a one-week diagnostic exome sequencing service designed to "meet the varied requirements of clinicians."

While the company performs the service worldwide under the European EN ISO/IEC 17025 standard, which it says is similar to the CLIA laboratory standards in the US, it does not currently provide clinical interpretation of the results, which it plans to add in the future.

According to GATC, which is based in Constance, the InView 1-Week Exome Diagnostic is suitable for diagnostic exome sequencing for Mendelian and non-Mendelian diseases, tumor profiling, and drug response biomarker discovery studies.

"We are trying to set foot in that park because we think that will be the future for sequencing, at least one of the big markets in sequencing," said Marcus Benz, GATC's chief operating officer. "This is a first start to deliver a data report and a bioinformatic report. Yet to come is the diagnostic analysis of the data."

The company expects demand for the new service to come both from clinical researchers and from clinicians, for example oncologists, he said.

The service has a list price of €7,500 ($10,000) and a turnaround time of seven days. It uses the Agilent SureSelect Human All Exon V5 kit for enrichment and the Illumina MiSeq for sequencing, with 100 base paired-end reads and an average target coverage of 60x.

Customers usually submit genomic DNA, but the company also accepts other samples, such as tissue, cells, blood, FFPE samples, or low amounts of DNA for whole-genome amplification, which may increase the turnaround time.

The bioinformatic analysis comprises variant calling and the annotation of SNPs and indels. Customers receive results through an online portal, including the raw sequencing data; a list of SNPs and indels with annotations, such as information about their effect on proteins; a "wet lab project report;" and a data analysis report.

The company said it offers a "fully optimized bioinformatics pipeline for exome variant filtering, annotation, and interpretation," but it does not offer a clinical interpretation yet.

GATC is currently developing diagnostic analysis services, both in house and with clinical partners with expertise in certain disease areas. It hopes to launch the first such service, which could include treatment options and links to clinical studies, later this year or early next year.

Right now, the diagnostic exome is not covered by health insurance. "We have to take that into our own hands, bring the product in the market and prove that it's a reliable and very valid product," Benz said. Once demand grows, he expects insurance to cover the test.

GATC validated the one-week exome with a number of beta customers, but none of the customers were available for comment at this time.

According to Benz, the ISO 17025 standard is the "minimum level" a laboratory in Europe needs to comply with in order to provide diagnostic testing, and it is similar to CLIA in the US.

GATC does offer the service to US customers under the European standard, but depending on market demand, it hopes to be able to offer the product under CLIA standards in the future, either by obtaining CLIA certification for its German laboratory or by opening a lab in the US, Benz said.

Last year, GATC's next-gen sequencing laboratory was accredited by the German national accreditation body, DAkks, under the ISO 17025 standard and is audited by DAkkS on a regular basis. In addition, the lab's sequencing methods on the Illumina HiSeq, Roche GS FLX, and PacBio RS have been accredited according to the ISO 17025 standard.

The ISO 17025 standard has a number of requirements, among them a quality management system, internal audits, a proprietary LIMS, validated analysis methods, participation in interlaboratory comparisons, regular testing and calibration of systems, ongoing quality control of reagents and materials, documented customer communication processes, complaint management, staff qualification and training, and detailed reports of results.

While the InView 1-Week Exome Diagnostic is GATC's first service geared at the diagnostic market, its daughter company, LifeCodexx, which shares the same building, has been offering the PrenaTest, an NGS-based non-invasive prenatal test for trisomy 21, since 2012.

The company and its partners are also evaluating several diagnostic sequencing panels. "Once we see that a certain panel is really established in the market and recognized as a valid diagnostic tool, we will follow that and include and validate it in our ISO 17025 process," Benz said.

He said that to his knowledge, GATC is the only company providing a diagnostic exome under the ISO 17025 standard in Europe at the moment, but he expects "there will be lots of competition showing up."

The firm is already facing competition from academic centers, for example the Radboud University Nijmegen Medical Center, which said last year that it plans to provide diagnostic exome sequencing to 1,000 to 2,000 patients in 2013 (CSN 10/3/2012).

Some health insurance companies in the Netherlands have reimbursed that center's exome test already at a rate of about €1,500 ($2,000), which is expected to drop, according to the researchers.