New CentoMD® 6.0 Update Brings Deeper Insights Into Rare Diseases

  • Database has grown to more than 465,000 analyzed patients, with more than 225,000 being linked to HPO terms
  • Release includes increase of almost 19 million to over 31 million unique variants
  • New features, including variant classification based on ACMG guidelines and streamlined HPO search tools, help to accelerate diagnosis and expand on resources for orphan drug development
  • New biochemistry module expands on previous genetic testing foundation to further fuel the knowledge base of rare diseases
  • HPO source code released for free use globally

CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, May 06, 2020 (GLOBE NEWSWIRE) – Centogene N.V. (Nasdaq: CNTG), a commercial-stage company focused on rare diseases that transforms real-world clinical and genetic data into actionable information for patients, physicians, and pharmaceutical companies, today announced the release of CentoMD® 6.0  ̶  the Company’s rare disease database powered by its Bio/Databank. Equipped with new features, the database serves as one of the world’s largest sources of information for rare diseases – having grown to more than 465,000 analyzed patients from 120 countries.

This latest update underlines the Company’s continuous commitment to unlocking the deepest insights into rare diseases. CentoMD 6.0 has grown to include more than 31 million unique variants, an increase of 150% since the last release in 2020 – significantly driven by detection via Whole Genome Sequencing (WGS). The number of classified and curated variants has also increased by nearly 80% to more than 145,000, approximately 65% of which were previously unpublished.

Ensuring users have the best access to information at their fingertips, the latest CentoMD update includes new and improved features, including:

  • Updated classification tool according to ACMG guideline evidences to classify each curated variant
  • Visualized branching structure for HPO parent and child terms to enhance searchability
  • Integrated module to display individuals who have undergone biochemical testing

To better support the rare disease community, the Company has also released the HPO-similarity source code as free open-source on the platform. CENTOGENE hopes that this will help scientists around the world and set the standard for clear universal HPO term usage – further enhancing collaboration between researchers.

Bettina Goerner, Chief Data Officer at CENTOGENE, said, “Currently, rare disease patients spend an average of over eight years to receive a diagnosis. At CENTOGENE, we are committed to significantly accelerating this process. To do that, we have created a unique database of the most detailed, evidence-based genetic, proteomic, and metabolic information. From here, we are able to help our physicians and partners translate data into real-life medical solutions.”

Krishna Kumar Kandaswamy, CENTOGENE’s Senior Director of R&D Bioinformatics, added, “We are convinced that to make a true impact in diagnosing patients, we also have to understand the rare diseases themselves. This requires the combination of rich data and advanced technology – allowing us to dig deep and establish advanced insights into rare diseases.”


CENTOGENE engages in diagnosis and research around rare diseases transforming real-world clinical and genetic data into actionable information for patients, physicians, and pharmaceutical companies. Our goal is to bring rationality to treatment decisions and to accelerate the development of new orphan drugs by using our extensive rare disease knowledge, including epidemiological and clinical data, as well as innovative biomarkers. CENTOGENE has developed a global proprietary rare disease platform based on our real-world data repository with over 3.9 billion weighted data points from approximately 600,000 patients representing over 120 different countries as of December 31, 2020.

The Company’s platform includes epidemiologic, phenotypic, and genetic data that reflects a global population, and also a biobank of these patients’ blood samples. CENTOGENE believes this represents the only platform that comprehensively analyzes multi-level data to improve the understanding of rare hereditary diseases, which can aid in the identification of patients and improve our pharmaceutical partners’ ability to bring orphan drugs to the market. As of December 31, 2020, the Company collaborated with over 30 pharmaceutical partners.

Important Notice and Disclaimer

This press release contains statements that constitute “forward-looking statements” as that term is defined in the United States Private Securities Litigation Reform Act of 1995, including statements that express the Company’s opinions, expectations, beliefs, plans, objectives, assumptions, or projections regarding future events or future results, in contrast with statements that reflect historical facts. Examples include discussion of our strategies, financing plans, growth opportunities, and market growth. In some cases, you can identify such forward-looking statements by terminology such as “anticipate,” “intend,” “believe,” “estimate,” “plan,” “seek,” “project” or “expect,” “may,” “will,” “would,” “could,” or “should,” the negative of these terms or similar expressions. Forward-looking statements are based on management’s current beliefs and assumptions and on information currently available to the Company. However, these forward- looking statements are not a guarantee of our performance, and you should not place undue reliance on such statements. Forward-looking statements are subject to many risks, uncertainties, and other variable circumstances, such as negative worldwide economic conditions and ongoing instability and volatility in the worldwide financial markets, the effects of the COVID-19 pandemic on our business and results of operations, possible changes in current and proposed legislation, regulations and governmental policies, pressures from increasing competition and consolidation in our industry, the expense and uncertainty of regulatory approval, including from the U.S. Food and Drug Administration, our reliance on third parties and collaboration partners, including our ability to manage growth and enter into new client relationships, our dependency on the rare disease industry, our ability to manage international expansion, our reliance on key personnel, our reliance on intellectual property protection, fluctuations of our operating results due to the effect of exchange rates, or other factors. Such risks and uncertainties may cause the statements to be inaccurate and readers are cautioned not to place undue reliance on such statements. Many of these risks are outside of the Company’s control and could cause its actual results to differ materially from those it thought would occur. The forward-looking statements included in this press release are made only as of the date hereof. The Company does not undertake, and specifically declines, any obligation to update any such statements or to publicly announce the results of any revisions to any such statements to reflect future events or developments, except as required by law.

For further information, please refer to the Risk Factors section in our Annual Report for the year ended December 31, 2020, on Form 20-F filed with the SEC on April 15, 2021, and other current reports and documents furnished to or filed with the U.S. Securities and Exchange Commission (SEC). You may get these documents by visiting EDGAR on the SEC website.

Media Contact:

Ben Legg
Corporate Communications

FTI Consulting
Bridie Lawlor O’Boyle