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

CAMBRIDGE, Mass. and ROSTOCK and BERLIN, Germany, September 03, 2020 (Globe Newswire)

  • 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

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) - 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.”


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.

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