Rare Disease Database, Machine Learning at Heart of New Collaboration

Can a cache of data combat the effects of rare diseases? Qiagen and Centogene AG think so. That idea helped fuel a partnership, announced yesterday, between the 2 entities.

The Netherlands-based Qiagen provides sample-to-insight solutions, analyzes DNA, RNA, and proteins, and uses bioinformatics software and knowledge bases to interpret data, according to the company. Centogene, meanwhile, leans on whole genome sequencing and other methods to reach diagnoses of rare diseases, relying on a test portfolio it claims is the largest in the world.

Together, the operations intend to integrate Centogene’s CentoMD rare disease database into Qiagen’s bioinformatics program to beef up test interpretations, according to the announcement. CentMD, a phenotype and genotype databse, contains more than 4.5 million variants from 135,000 cases from more than 115 countries.

Qiagen will now become the “exclusive global commercial distribution partner” of this database, and Centogene will license its collaborator’s solutions to improve diagnostic testing services. Beyond that, the companies said, they plan to advance machine learning to improve clinical prediction.

“With so many rare diseases, we see an underserved population of patients from the testing, diagnosis, counseling, and treatment perspectives,” Laura Furmanski, PhD, senior vice president and head of Qiagen’s Bioinformatics Business Area, said in a statement. “By combining deep, expertly curated resources from Qiagen and Centogene, we will deliver powerful insights for researchers and clinicians and ultimately help patients and families deal with rare and hereditary disorders.”

Centogene’s CEO and founder, Arndt Rolfs, MD, added that his company’s “extensive test portfolio” turns up new takeaways regarding the epidemiological basis of hereditary disorders and its links to data. The new partnership, he said, will grow Centogene’s market reach and help streamline its reporting.

“These are exciting expansion opportunities for us,” Rolfs said.

Qiagen’s bioinformatics portfolio includes solutions related to the analysis, interpretation, and reporting of biological data. It also spans proprietary software and several databases.