Case Study: Alexion Expands Hypophosphatasia Diagnosis with Genomenon

Alexion boosts actionable ALPL variants 158% with Genomenon

Alexion, a pharmaceutical company, faced challenges in diagnosing the rare genetic disease Hypophosphatasia (HPP) due to missing and inconsistently classified variants in the ALPL gene. This led to diagnostic delays and a high rate of uncertain findings. Alexion partnered with the vendor Genomenon to address this and expand disease awareness.

Genomenon applied its AI-powered platform and expert curation to comprehensively identify and classify ALPL variants from the scientific literature. This solution resulted in a 158% increase in actionable diagnostic yield compared to public databases alone. Genomenon publicly shared this evidence, leading to more accurate and consistent diagnoses globally and enabling more patients to be identified for treatment.

Alexion