Episode 5

CentoCloud® – Biodatabank

The CENTOGENE Biodatabank is believed to be the world’s largest real-world data repository for rare and neurodegenerative diseases, bridging the gap between genetic variants and clinical information.

CENTOGENE’s Biodatabank empowers CentoCloud through its over 650,000 analyzed cases and more than 31,000,000 unique variants from around the globe, including Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) data and Human Phenotype Ontology (HPO) terms from over 33,000 patients. Discover how you can take advantage of our Biodatabank with CentoCloud.

Listen to our Audio Guide for Episode 5 – Biodatabank

What Is the CENTOGENE Biodatabank?

Over the past 15 years, CENTOGENE has helped rare and neurodegenerative disease patients, their families, and a network of doctors establish rapid and reliable diagnoses.

Throughout this time, we have received samples from around the world – arriving daily from one of over 120 countries for centralized storage and analysis. To date, more than 400,000 of our CentoCards (our filter card solution) are stored in our biobank. In addition to samples collected via CentoCard, we also receive other types of materials, such as liquid blood, cells, and extracted DNA – making the CENTOGENE Biodatabank a unique biorepository.

But that’s not all. To truly be able to establish complete clinical pictures of our patients, we need more information. Therefore, we gather important, medically relevant information, including socio-demographic and clinical data.

We capture this patient data* in a standardized way, and via AI-enabled extraction of clinical data from various received sources. Once we obtain the biomaterial, we perform a multitude of analytical procedures, including DNA/RNA sequencing, biochemical analysis via mass spectrometry, enzymatic assays, and more. We do this in an integrated manner that allows us to comprehensively combine clinical and analytical test information for every patient, thus creating an expansive multiomic data set. Due to these collective efforts, CENTOGENE has aggregated one of the most comprehensive rare and neurodegenerative disease-centric Biodatabanks in the world.

Access Our Biodatabank With CentoCloud

  • Variant Annotation
  • Advanced Medical Insights
  • Variant Reclassification

CENTOGENE Biodatabank: the world’s largest real-world data repository for rare and neurodegenerative diseases

CENTOGENE Biodatabank Illustration

What Are Human Phenotype Ontology (HPO) Terms?

HPO was created to serve as a standardized vocabulary of phenotypic abnormalities that have been seen in human disease. It is a formal ontology of human phenotypes and contains over 13,000 terms and over 156,000 annotations to hereditary diseases…

To date, we have diagnosed over 2,500 rare diseases. Of these, we have identified more than 300 diseases with at least 20 diagnosed cases*** – a remarkable number considering that these diseases are rare.

Why Is It Essential to Combine Clinical and Genetic Data?

The challenge of variant interpretation remains at the forefront of diagnostic challenges, in part due to the missing gene-phenotype link. Unfortunately, this often means patients spend years on their diagnostic odyssey.

Recently, our R&D team completed a landmark study and provided solutions to patients who were desperately searching for answers. By combining our unique expertise with deep genetic analysis and information in the CENTOGENE Biodatabank, we were able to discover six new rare diseases and evidence supporting 31 candidate genes. As a result of these findings, over 90 patients were able to finally receive a diagnosis.

Beyond a diagnosis, they have now gained access to future treatment options and improved clinical management based on known-disease overlaps. On top of that, countless others could now potentially be diagnosed and treated based on these findings.

This is the result of expertise, innovation, and deep insights available at CENTOGENE. It is the commitment to go the extra mile to turn insights into answers. For patients, it’s also not simply a diagnosis. It’s finally knowing. It’s an opened door to potential treatment options. It’s hope, or even certainty, of a better future.

Landmark Study

"Our results demonstrate the value of data repositories which combine clinical and genetic data for discovering and confirming gene–disease associations. Genetic laboratories should be encouraged to pursue such analyses for the benefit of undiagnosed patients and their families" 

Read more

Biodatabank Annotation

Variant annotation based on our proprietary Biodatabank

  • > 650,000 individuals, > 400,000 biosamples from > 120 countries
  • > 2,500 rare diseases diagnosed
  • > 31,000,000 unique variants
  • > 3,500 associated phenotypes, 14,000 HPO terms, > 650,000 individual HPO associations
  • Other widely used databases are also referenced

Advanced Medical Insights

Our optional reporting offer enables any Next Generation Sequencing (NGS) laboratory to generate state-of-the-art comprehensive medical reports that include up-to-date scientific knowledge, our clinical expertise, and unique insights, which are all based on our rare and neurodegenerative disease-centric Biodatabank.

Variant Reclassification

At CENTOGENE, we have a life-long commitment to our patients. All diagnostic results from our analyses are automatically entered into our variant reclassification program. This program supports the identification of new genetic evidence. We notify physicians automatically and free of charge if a new classification has an impact on a previous diagnosis.

  • Proactive and free-of-charge notification for every patient affected by reclassification
  • Systematic updates based on identification of new genetic evidence
  • Stringent data curation and validation process
  • Most reclassified variants are Variants of Uncertain Significance (VUS)
CentoCloud® – Our New Bioinformatics SaaS Platform

High-Quality Reporting Is Key to Building a Partnership of Trust.

Episode 6: Medical Reporting

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References

* As the essential biodata life science partner for rare and neurodegenerative diseases, we use data-generated insights to provide diagnostics and accelerate improved treatment and health outcomes for patients globally. Carrying out both in-house research and collaborative studies with organizations around the world, we help to drive advanced research that accelerates the discovery and development of new biomarkers and treatment options.

Throughout the entire process, CENTOGENE has a lifelong commitment to protecting the privacy of patients’ data, which is secured and handled with the greatest level of care and in accordance with applicable regulations and laws, including but not limited to GDPR. All patient data is securely transmitted and stored in the EU subject to EU laws, using state-of-the-art technology.

If a patient does not select to give optional research consent, CENTOGENE is only permitted to use patients’ samples/data for analysis/testing and store it for up to 10 years in accordance with German regulations.

** https://pubmed.ncbi.nlm.nih.gov/27899602

*** Includes patients with and without optional research consent