Qiagen and Centogene Collaborate on Rare Disease Testing

Rare Daily Staff

Bioinformatics company Qiagen and the rare disease diagnostics company Centogene said they have entered into a collaboration and co-marketing agreement to provide customers more comprehensive clinical testing solutions in rare genetic diseases.

“With so many rare diseases, we see an underserved population of patients from the testing, diagnosis, counseling and treatment perspectives,” said Laura Furmanski, senior vice president and head of Qiagen’s Bioinformatics Business Area. “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 provides insights into the complex interaction between genetics, biochemistry, and clinical phenotypes of patients with hereditary disorders. The agreement provides Qiagen with Centogene’s extensive data of genotypic and phenotypic information about rare diseases while extending the reach of Centogene by pairing it with Qiagen’s offerings and leveraging the bioinformatics giant’s relationships.

Under the collaboration Centogene’s CentoMD rare disease variant database will be integrated into Qiagen’s bioinformatics offering to enhance test interpretation. The CentoMD phenotype/genotype database includes more than 4.5 million clinically annotated variants from 135,000 cases from more than 115 countries of origin.

Qiagen will serve as the exclusive global commercial distribution partner of CentoMD. Centogene will license Qiagen’s bioinformatics solutions to support Centogene’s extensive rare disease diagnostic testing services. The companies, which have been sharing data through the Allele Frequency Community, will also work together to develop advanced machine-learning methods to improve clinical prediction.

October 11, 2017