Case Study: UCB Accelerates TK2D Diagnosis with Genomenon

UCB increases ClinVar TK2 variants by 46% with Genomenon

UCB, a biopharmaceutical company, faced the challenge of raising awareness and shortening the time-to-diagnosis for the ultra-rare genetic disease Thymidine Kinase 2 Deficiency (TK2d). The disease's overlapping symptoms and frequent variants of uncertain significance on genetic tests prolonged the diagnostic odyssey for patients. To address this, UCB partnered with Genomenon to ensure every literature-supported TK2 variant could be found and trusted by the global community.

Genomenon used its AI-powered Mastermind Genomic Intelligence Platform to scan biomedical literature and curate TK2 variants according to clinical guidelines. The solution involved building a comprehensive knowledgebase, submitting curated variants to public databases, and providing annual updates. As a result, Genomenon submitted 108 TK2 variants to ClinVar, increasing the number of pathogenic/likely pathogenic variants by 46%. This effort reclassified a variant to enable faster diagnosis and made all evidence freely accessible, improving diagnostic confidence and reducing interpretation variability for labs worldwide.

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