CENTOGENE revolutionizes the clinical interpretation of rare disease genetic variants


CENTOGENE AG (“CENTOGENE”) announces the launch of the world’s largest genetic mutation database for rare diseases, CentoMD®.

CentoMD® is a comprehensive and unique repository of genetic variants, including a huge number of unpublished pathogenic variants gathered from patients worldwide. By analyzing over 2,300 genes across a multi-cultural and ethnically diverse population, this extensive database enables physicians, researchers and geneticists to search, select and filter through variations in genes, genetic transcripts and mutations, tailoring their search to specific medical needs.

CentoMD® fills an important gap currently existing in the clinical interpretation of novel genetic variants. Previously, it was a monumental task sifting through an enormous amount of medical data for detecting the right genotype/phenotype correlation when diagnosing rare disease cases. By combining precise clinical genetic information from more than 90 countries with the actual clinical patient case corresponding to that data, CentoMD® greatly standardizes and expedites the medical interpretation of these variants.

Diagnosing a patient with a rare disease is a complex task. The majority of detectable genetic variations and mutations have up to now not been properly described. This of course adversely effects the quality of care medical professionals can offer their patients.

With CentoMD®, physicians now have a virtual encyclopedia of genetic information at their fingertips, allowing them to diagnose and treat these rare diseases in a much more efficient, speedy and targeted manner.

CentoMD® will be continuously updated with actual information on identified genetic variants. This will further help provide doctors and medical researchers alike with detailed, nearly real-time analysis on the overall frequency and clinical significance of the most recently observed genetic variants and mutations.

Professor Arndt Rolfs, CEO of CENTOGENE, explains:

“When examining genetic variants, the decisions you have to make about proper treatment massively affects your patient health and medical outcome. Having all the data and all the information available for making these crucial diagnoses in a comprehensive up to date database is what CentoMD® is all about.”

Professor Peter Bauer, University of Tübingen, states:

“CentoMD® is the world’s largest repository of unique genetic variants associated with rare diseases, with each disease carefully selected and organized by individual cases. This guarantees the highest possible quality in genetic diagnostics.”


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