Unlock Diagnostic Awareness
Actionable Evidence Fuels Genetic Disease Recognition and Scientific Progress
Genetic Disease Sponsorship reduces barriers to genetic diagnosis by providing the global clinical and research communities with access to a publicly available, expertly curated knowledgebase of genetic variants and reference-cited evidence tailored to your disease of interest.
Streamlining Evidence, Strengthening Diagnostics, Supporting Patients
By taking on the complex task of creating, maintaining, and distributing this invaluable resource, we enable you to focus on your core priorities while ensuring critical genomic data is readily accessible.
Enhance Awareness and Diagnostic Rates
After we curate your genetic disease database, we submit it to ClinVar and include it on our Mastermind Platform ensuring the broadest possible visibility to drive disease awareness.
Ensure Consistent and Robust Lab Interpretation
By establishing a uniform, robust foundation for lab interpretations, we decrease the likelihood of diagnostic errors due to overlooked evidence.
Give Back to the Community and Reduce VUS
Effortlessly distribute critical, independently reviewed information to the research and clinical communities and strengthen existing efforts to reduce the rate of VUSs and improve patient outcomes.
“People living with TK2d and their families face extraordinary challenges due to the rarity and complexity of this disease.By partnering with Genomenon, we are helping to close critical knowledge gaps, accelerate accurate diagnosis, and support the global research community in their efforts to bring hope and new possibilities to those affected by TK2d. Making curated variant data accessible to all is a vital step toward improving patient outcomes and advancing the field of rare disease research.”
Sarah Chang, Ph.D., Medical Strategy Lead at UCB
What We Provide
Variant Evidence
Published SNVs and indels are interpreted by trained variant scientists according to the clinical standard ACMG/AMP guidelines. All resulting classifications are supported by reference-cited evidence and data from population databases/computational prediction algorithms. This evidence is delivered in a user-interface that allows for searching, filtering, and downloading of the data.
Submission of Variant Evidence to ClinVar
Variants, their classifications, and supporting evidence are submitted to ClinVar. Since an exact cDNA change is a requirement for submission to ClinVar, variants where this cannot be determined are excluded.
Yearly Updates
The Variant Evidence is updated on a yearly basis. Any changes to variant classifications and supporting evidence will be submitted to ClinVar and released into Mastermind.
Team Training
We will train your internal teams (and optionally, external KOLs) on the fundamentals of genetic diagnosis and variant interpretation and how to optimize the use of the Variant Evidence in both ClinVar and Mastermind.
Media Package (Optional)
This optional package may include a custom educational handout, social media posts, and/or a press-release.
“Pharming’s dedication to serving patients with rare diseases is the driving force behind forming partnerships with companies such as Genomenon. By providing laboratories and clinicians with comprehensive and clear variant interpretation data, we help ensure patients with APDS receive earlier, more accurate diagnoses and appropriate medical management. Pharming is unwavering in its commitment to rare disease patient populations and supporting the caregivers and doctors who serve these patients daily.”
Heather McLaughlin, Senior Director of Molecular Diagnostics at Pharming
Illuminating Rare Diseases Through Expert Curation and Global Access
Our Genetic Disease Sponsorship program delivers disease-specific variant knowledge that’s fully curated and widely accessible—empowering global clinicians and researchers to drive faster diagnoses and enhanced care.
Would your organization benefit by promoting awareness and increasing the diagnostic rates of your rare disease program?
Connect with us to discuss promoting your program and advancing genetic disease recognition in the scientific community.
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