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Centogene Expands Rare Disease MDx Business with Clinical Variant, Exome Sequencing Offerings

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NEW YORK (GenomeWeb) – Centogene, a German firm focusing on rare disease molecular diagnostics, plans to enter new markets such as somatic oncology and noninvasive prenatal testing as its existing testing business continues to soar.

The company has launched a number of new products and services over the last few quarters. This month, for example, it started granting paid access to CentoMD, its proprietary database of genetic disease variants, and late last year it launched a clinical exome sequencing test called CentoXome.

The privately-held 2006 spinout of the University of Rostock in Northeast Germany has been focusing on genetic and biochemical diagnostic testing for rare inherited diseases, offering a portfolio of more than 2,400 tests, among them many single-gene tests, more than 150 next-generation sequencing panels, and its clinical exome test. Centogene's headquarters and central laboratory are in Rostock, but it also has offices in Berlin, Vienna, Dubai, and India.

In addition to clinical diagnostic testing, Centogene offers its services to pharmaceutical companies for drug development, including biomarker monitoring to assess drug response in rare diseases, and has collaborations with several undisclosed pharma partners. The company, which has more than 200 employees, does not disclose its annual revenues but has been profitable since inception and has been reinvesting its profits into growth initiatives, according to Péter Adorján, Centogene's chief business development officer.

Centogene provides both pre- and postnatal diagnostic testing in more than 90 countries, as well as newborn screening in partnership with individual health systems. In addition to testing services, it offers a range of CE-marked IVD kits, called Extan kits, for sequencing individual disease genes.

The company's testing business has been particularly strong in the Middle East, Scandinavia, and a number of other European countries, and has been growing fast in Asia and Latin America, Adorján said. In Canada, the firm has an exclusive partnership with LifeLabs Medical Laboratory Services, which acquired its Canadian testing business last year. Centogene is considering expanding its presence in the US market, where it offers certain tests but has low market penetration, but has no timeline for that yet, Adorján said.

Earlier this month, the company started selling access to CentoMD, its in-house database of variants associated with rare diseases. At the moment, the database contains approximately 27,000 clinically annotated variants in 2,000 genes from roughly 35,000 anonymized patients tested at Centogene, most of them over the last couple of years. As the company's testing business takes off, the database will continue to grow as well.

CentoMD complements other resources for annotating clinical variants, providing "the last mile in the interpretation" of test results, according to Adorján. Unlike other variant annotation databases, including ClinVar, which contain data contributed by many laboratories, CentoMD only includes variants from its own laboratory, obtained through a standardized workflow, and provides highly curated clinical information. Also, the database is ethnically diverse, containing results from patients in the Middle East, Asia, and Europe, while patients in other databases tend to be predominantly Caucasian, he said. In addition, more than half of clinically relevant variants in CentoMD are currently unpublished.

Users can access the database on a pay-per-use basis. Pricing differs depending on laboratory size and usage, and Centogene currently offers free two-week trial access.

The company plans to showcase CentoMD at the European Society of Human Genetics annual meeting in Glasgow in June. So far, it has seen strong interest from both clinical diagnostic laboratories and potential strategic partners for joint offerings, Adorján said.

Centogene's CLIA-certified and CAP-accredited Rostock laboratory currently processes more than 1,500 patient samples per month, a number that continues to grow — testing volumes have been almost doubling each year, Adorján said. To facilitate sample shipment across borders, customers have the option to send in dried blood samples, spotted onto the company's proprietary CentoCard filter cards, which can be sent with regular mail and require no refrigeration.

Centogene's NGS-based tests run on a variety of sequencing platforms, including Thermo Fisher Scientific's Ion Proton and Illumina's HiSeq and NextSeq. It also operates a legacy 454 sequencer that will be phased out. 

Turnaround time for the NGS panels is about 18 business days, and between 15 and 20 business days for the CentoXome clinical exome test, which runs on an Illumina platform.

According to the firm's website, CentoXome comes in three versions, all involving analysis of patient-parent trios, though Adorján said pricing can vary for different geographic regions: a basic version that provides raw sequence data and has a turnaround time of 15 business days for €1,450 ($1,600), an extended version that includes bioinformatics analysis and has a turnaround time of 20 business days for €2,950 ($3,200), and an advanced version that includes Sanger validation of pathogenic variants and an extended clinical report with a turnaround time of 20 business days for €3,985 ($4,400). For reporting incidental findings, Centogene adheres to the recommendations by the American College of Medical Genetics and Genomics.

One area of testing the company plans to expand into is somatic tumor profiling. Centogene already offers a number of gene panels and single-gene tests for hereditary cancer germline testing but currently does not analyze tumor samples. Over the next few quarters, it plans to launch NGS panels for somatic tumor testing, Adorján said.

Centogene also wants to enter the non-invasive prenatal testing market, he said, but declined to provide details at this time.

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