CENTOGENE Publishes Huge Dataset That Supports Genome Sequencing as a First-Line Diagnostic Test

  • Publication demonstrates genome sequencing as the optimal standard for genetic testing
  • Study presents the largest cohort of its kind with over 1,000 index cases
  • Genome sequencing minimizes stepwise testing, thereby accelerating diagnosis for rare disease patients

CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, Sept. 03, 2020 (GLOBE NEWSWIRE) -- Centogene N.V. (Nasdaq: CNTG), a commercial-stage diagnostics and genetic research company, today announced that its scientific publication ‘Successful application of genome sequencing in a diagnostic setting: 1,007 index cases from a clinically heterogeneous cohort’ has appeared in the European Journal of Human Genetics (The official journal of the European Society of Human Genetics) (https://www.nature.com/articles/s41431-020-00713-9) - one of the world's leading medical genetic journals. The study presents one of the largest cohorts of patients with genome sequencing (GS) performed in a clinical setting to date and suggests GS as a first-line test for diagnosing rare disease patients.

The paper finds that GS was especially valuable for patients who had received a negative diagnostic report from previous exome sequencing, and relates this observation to the technological superiority of GS. It concludes that the use of GS as a comprehensive first-line genetic test would avoid the diagnostic delay and potentially higher financial burden associated with stepwise testing.

Prof. Arndt Rolfs, CEO of CENTOGENE, said, “Over the past fifteen years, we have seen it as our responsibility to use the latest science-backed technologies to shorten patients’ diagnostic odysseys. Maintaining this commitment, we have looked into one of the largest cohorts of its kind, and the results underline the diagnostic power of genome sequencing. We are proud that we can now share these insights – characterizing genome sequencing as the preferred standard for genetic testing.”

“At CENTOGENE, we pride ourselves on providing rare disease patients with the most rapid and reliable diagnostics,” adds Dr. Aida Bertoli-Avella, Head of Research Data Analysis. “With this study, we have demonstrated the strong clinical utility of genome sequencing, and demonstrated how to avoid the drawbacks associated with stepwise testing.”

About CENTOGENE

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 approximately 3.0 billion weighted data points from over 530,000 patients representing over 120 different countries as of March 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 March 31, 2020, the Company collaborated with 39 pharmaceutical partners covering over 45 different rare diseases.

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 govern-mental 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, 2019 on Form 20-F filed with the SEC on April 23, 2020 and other current reports and documents filed with the U.S. Securities and Exchange Commission (SEC). You may get these documents by visiting EDGAR on the SEC website at www.sec.gov.

Media Contact: CENTOGENE Ben Legg Corporate Communications press@centogene.com FTI Consulting Bridie Lawlor +1.917.929.5684 bridie.lawlor@fticonsulting.com

Primary Logo

Back to news