Rare Daily Staff
Centogene, which uses real-world clinical and genetic data to accelerate diagnosis and improve treatments for patients with rare diseases, said its technology has identified six new gene-disease associations.
The findings, published in the journal Genetics in Medicine, are the result of in-depth analyses into the company’s rare disease Bio/Databank after standard genetic testing was unable to determine the exact cause of symptoms. As a result, more than 90 patients were able to finally receive a diagnosis—and the analyses created the potential to diagnose others following further research.
While the ability to sequence patients and interpret data have improved over the past ten years, more than half of patients with genetic diseases remain undiagnosed, even after applying genome-wide diagnostic approaches. Variant interpretation remains at the forefront of diagnostic challenges, in part due to the missing gene-phenotype link.
“Although technological advancements over the past decade have led to improved diagnostics, our study shows that simply applying a genetic test is not enough,” said Aida Bertoli-Avella, head of research data analysis for Centogene. “Especially when it comes to rare diseases, you have to look past the surface—using advanced tools to reveal the underlying cause of a disease and open up a new world of treatment options.”
For the study, the company carried out extensive exome sequencing and genome sequencing using its rare disease Bio/Databank to evaluate genes with no known disease association and patients suffering genetic diseases that had remained undiagnosed. The company performed analyses on its biobank using specific criteria, which enabled further identification of unrelated patients displaying similar phenotypes. Ultimately, this led to the discovery of six novel gene-disease associations based on 38 severely affected patients with variants in six genes: BLOC1S1, IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699. It also identified 31 additional candidate genes.
Photo: Aida Bertoli-Avella, head of research data analysis for Centogene