Key Takeaways
- Patient advocacy organizations often lack access to reliable patient prevalence and demographic data needed to support research and funding efforts.
- GeneDx Discover Snapshot provides gene-specific insights derived from GeneDx’s large genomic dataset.
- Advocacy groups can use these insights to grow communities, support fundraising, and engage biopharma partners.
- Real-world genomic data can accelerate rare disease research, awareness, and treatment development.
Without clear insights into patient prevalence, demographics, or geographic distribution, patient advocacy organizations face an uphill battle when trying to raise awareness, secure funding, and engage key stakeholders.
That’s where GeneDx Discover Snapshot comes in.
Discover Snapshot is a visualization tool designed for gene-specific disorders. Powered by GeneDx’s extensive database of patient results collected over more than a decade, it provides de-identified, aggregated genetic and real-world data to help advocacy organizations better understand their patient populations.
With Discover Snapshot, organizations can gain insights into their gene of interest, identify patient counts and geographic distribution, and access visualized data that can help strengthen advocacy efforts and support conversations with potential biopharma partners.
Unlock Key Insights with Discover Snapshot
Discover Snapshot provides advocacy organizations with several types of valuable insights.
Patient counts
The number of patients with variation in a specific gene within the GeneDx U.S. patient testing database.*
Patient demographics
Insights into age ranges (patient age at testing and current age), reported ethnicity, and sex assigned at birth.
Geographic distribution
A geographic heat map showing where patients received their genetic testing results across the United States.
Only patients who have consented to data sharing are included in the cases reported within Discover Snapshot.
How Advocacy Organizations Can Use This Data
Access to real-world genomic insights can help advocacy organizations strengthen their impact in several ways.
Grow your community
Discover where your target patient population receives care. These insights can help you connect with more patients and families, expand your reach, and strengthen your advocacy network.
Advocate to biopharma
Biopharma companies rely on real-world data to assess investment potential. Discover Snapshot enables advocacy organizations to demonstrate the size and characteristics of their patient community—helping make a stronger case for research investment, partnerships, and new treatments.
Strengthen fundraising efforts
Disease prevalence insights can support fundraising campaigns by demonstrating the real-world impact and need within your community.
Optimize event planning
Geographic insights help organizations plan family meetings, fundraisers, and awareness campaigns in the locations where their community is most concentrated.
Built on One of the Largest Rare Disease Genomic Datasets
The insights available through Discover Snapshot are powered by GeneDx’s proprietary genomic database—one of the most comprehensive resources for rare disease insights.
Deep
GeneDx has sequenced more than 750,000 exomes and genomes, enabling comprehensive analysis of genetic variation.
Diverse
Approximately 50% of patients tested at GeneDx identify as having non-European heritage, making the dataset one of the most representative in genomic medicine.
Vast
With more than 1.5 million unique samples interpreted, GeneDx has built one of the largest genetic databases in the world.
Together, this depth, diversity, and scale enable GeneDx to generate meaningful insights that help advance precision medicine and support rare disease communities.
Take Your Advocacy Further with Data-Driven Insights
Access to high-quality genomic data can empower advocacy organizations to strengthen their communities, support research, and accelerate the development of new treatments.
GeneDx Discover Snapshot provides a new way for advocacy organizations to leverage data and better understand the patients they serve.
Ready to see how Discover Snapshot can support your advocacy goals?
Contact us today to learn more.
Data Transparency Note
The GeneDx Discover Snapshot includes patients identified by GeneDx in the United States who are eligible for data sharing. It does not include data from other clinical or research laboratories. All data has been de-identified.
