Centogene's Rare Disease Database Hits One Billion Collected Alleles

Kaitlynn Ely

Centogene’s global mutation database for rare genetic disorders, CentoMD, has reached a milestone of more than one billion collected alleles from over 200,000 patient samples.

“CentoMD provides a virtual encyclopedia of genetic information, allowing healthcare professionals to diagnose and treat rare diseases in a much more efficient, speedy and targeted manner,” Arndt Rolfs, MD, CEO of Centogene, explained.

The company believes that the research available within the database can assist healthcare professionals in diagnosing their patients efficiently, resulting in more effective treatments.

“While any given rare disease affects only a small percentage of people, more than 350 million people worldwide are suffering from rare diseases. Diagnosing a patient with a rare disease can be exceedingly complex and challenging as our ability to discover a genetic variation in a patient genome is ahead of our ability to interpret that variation,” said Prof Rolfs in a press release.

“Reaching over one billion alleles in our database CentoMD is a tremendous milestone and will significantly improve the quality of any genetic data set, being the basis for further medical care.”

The data within CentoMD are based on clinically diagnosed individuals worldwide, and include information on rare diseases regarding genetic location, protein changes, types of variation, and biochemical analyses.

Healthcare professionals have access to standardized annotated genetic mutations and 57% of unpublished clinical variants with CentoMD. Subscribers can export relevant data to an excel file for their own personal records.

The most updated CentoMD database gives clinicians access to over 5.2 million variants, with many variants detected by whole exome sequencing.

Clinicians are also able to perform symptoms-based queries based on Human Phenotype Ontology (HPO), and in return CentoMD provides potential candidate genes and variants that can possibly define the symptoms of interest.

CentoMD is updated on a quarterly basis while a constant reevaluation of variants is carried out by Centogene. Approximately 18,000 cases are diagnosed each month and are added to the database. Healthcare professionals subscribed to the database are always notified of these changes to ensure they are giving the most accurate diagnosis for their patients.

Centogene believes that the motivation for researchers who research rare genetic diseases is based on a patient-centric attitude.

“Supported with this information, healthcare providers and pharmaceutical partners will be able to determine the most accurate diagnosis and ultimately, help close the gap between diagnosis and therapy,” Rolfs concluded.
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