Learn how Pharming is using Genomenon’s Genetic Disease Sponsorship program to improve diagnostic rates for an ultra-rare genetic disorder
Joenja® (Lenolisib) is the first FDA-approved therapy for Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) and was developed by Pharming. APDS is an ultra-rare primary immunodeficiency caused by variants in the PIK3CD and PIK3R1 genes.
As a result of its rarity and overlap with other immunodeficiencies, diagnosis of APDS remains a challenge, and misdiagnoses are common. Definitive diagnosis of APDS relies on genetic testing but is made difficult by a high rate of Variants of Uncertain Significance (VUSs) and a lack of training for clinicians on how to translate genetic test reports into clinically actionable information. These challenges combined can delay or prevent diagnosis, negatively affecting patient outcomes.
Objective
Pharming was motivated to enable earlier diagnosis and treatment of APDS to improve patient outcomes. They recognized an unmet need for a comprehensive, freely available resource of variant data for PIK3CD and PIK3R1 to facilitate the resolution of VUSs and provide ready access to trusted evidence.
Challenges
- Minimizing time and resource investment – Creating a comprehensive database of variants would require a significant investment, on the order of years, in the initial data curation as well as building a network and website for dissemination.
- Maintaining data currency and accessibility – The database would need to be kept up to date and continually supported from a technical standpoint in order to ensure ongoing value, which would cause continued interruptions to high-priority work.
- Preserving trust and compliance – Given Pharming’s commercial interests in the treatment of APDS, the database would need to be completed by an independent party with specific expertise in both genetics and data curation to ensure trust in the quality of the data.
The Solution
Pharming partnered with Genomenon to overcome these challenges and rapidly develop and disseminate comprehensive variant data to a global audience.
- Variant Landscape for PIK3CD and PIK3R1 - Genomenon used a unique combination of AI-driven indexing and expert curation to rapidly deliver a Variant Landscape for PIK3CD and PIK3R1. This included all published variants interpreted according to clinical guidelines with reference-cited evidence from the literature and other databases.
- Genetic Disease Sponsorship for APDS - Genomenon disseminated the Variant Landscape and additional APDS information to over 25,000+ users of the Mastermind® Genomic Intelligence Platform across 2,000+ clinical labs in 140+ countries.
Results
- Time Savings – The Variant Landscape was developed and disseminated worldwide within only 4 weeks and is supported and kept up to date by Genomenon.
- Enhanced Engagement – Since the start of the program, there has been a 129% and 174% increase in engagement with the data for PIK3CD and PIK3R1, respectively.
The partnership between Pharming and Genomenon has been a significant step forward in providing better outcomes for APDS patients. By leveraging Genomenon’s AI technology and expertise in genetic data curation, Pharming has provided a vital resource for clinical laboratories and clinicians to enable earlier and more accurate diagnoses.
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