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With an average of seven years to pinpoint a diagnosis, with less than 250 FDA approved treatments, patients with one of the over 7,000 different rare diseases are currently facing some of the highest unmet medical needs. CENTOGENE is a data-driven rare disease company that plans to rewrite this with their mission to enable the cure of 100 rare diseases in 10 years. Maximillian Schmid, M.D., CENTOGENE’s Chief Commercial Officer – diagnostics, recently sat down with Clinical OMICs to discuss how their multiomic approach to diagnostics is key to accelerating personalized treatment options.
Who is CENTOGENE, and what do you do?
Over the past 15 years, CENTOGENE has helped rare 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 in Rostock,Germany, for centralized storage and analysis. To date, more than 400,000 of our CentoCard® filter cards designed for easy sample collection are stored in our biobank. In addition to samples collected via CentoCard, we also receive other types of materials, like blood, cells, and extracted DNA—making the Bio/Databank a truly unique biorepository. As a result, we have aggregated one of the most comprehensive rare disease-centric Bio/Databanks in the world that goes beyond genetics and generates multiomic rare disease insights.
So, tell me about multiomics and why you think it is an improvement on the conventional diagnostic approach?
Well, multiomics represents the subsets of omics that are addressed when looking at a patient. This consists of genomics, transcriptomics, proteomics, metabolomics, and phenomics. By starting out with a complete clinical picture via such multi-omic data, the process and precision of treating rare diseases is being redefined. Working together with physicians and patients to collect this various data from the very beginning, we are now able to gain multilayer insights that help us provide the most accurate diagnosis, develop better disease models, and thus deliver more precise medicine.
What does it actually look like to apply a multiomic approach?
As you know, rare diseases are often complex and present intricate disease pathways. A genetic test alone may not be able to provide the information needed for a final diagnosis. Therefore, we have pioneered a combination of different omics with an optimized testing strategy. For example, CentoMetabolic®, one of the world’s first multiomic analyses for metabolic diseases, tests for a comprehensive range of genes via panel technology, followed by biochemical testing. This includes enzyme assays as well as a selection of proprietary biomarkers. The panel covers over 200 genes, and it has been developed specifically for patients suspected of having a metabolic disorder or presenting complex, overlapping symptoms, a metabolic crisis, or neurological conditions of unknown etiology. When genetic ariants relevant to a patient are then detected via CentoMetabolic, we automatically complement the analysis with biomarkers and/or enzyme testing if applicable, and include the results in the medical report. In addition, CentoMetabolic includes an evaluation of copy number variants (CNV) at no extra cost—making the highest quality diagnostic analyses more accessible. CentoMetabolic really gives the confidence of a complete clinical picture, while laying the roadmap to personalized treatment options.
What’s next for CENTOGENE?
Our mission is to enable the cure of 100 rare diseases in 10 years. In order to deliver on this, you first need a diagnosis that covers the depth and breadth of a patient’s biology—allowing you to truly understand the cause of a disease. In continuously bringing advanced multiomic diagnostic products to market, we are building unparalleled insights and the know-how to find therapeutic approaches faster and positively impact patients’ lives.