Arm yourself with the data and resources to advance your cause
March 10, 2025 • 4 min read
This data is for illustrative purposes only, showcasing the type of insights a partner can expect to receive with GeneDx Discover Snapshot.
Advocating for people with rare diseases is challenging when you don’t have access to the right data. Without clear insights into patient prevalence, demographics or geographic distribution, patient advocacy organizations face an uphill battle in driving awareness, securing funding and engaging key stakeholders.
That’s where GeneDx Discover Snapshot comes in—a unique visualization tool for gene-specific disorders. Powered by our unmatched database of patients with reported results collected over a decade, it provides de-identified, aggregated genetic and real-world data to help gain a deeper understanding of your patient populations.
With Discover Snapshot, you can gain deeper insights of your gene of interest, identify patient counts and geographic distribution, and access visualized real-world data that can be used to help grow your communities, strengthen advocacy efforts, and start conversations with potential biopharma partners.
Patient counts
The number of patients with variation in a specific gene for our US patient testing database.*
Patient demographics
Insights into age ranges (patient’s age at testing and current age), reported ethnicity, and sex assigned at birth.
Geographic distribution
Heat map showing states where patients received their genetic testing results.
*Note that only patients who consented to data sharing will be included in the cases we report on Discover Snapshot
GeneDx Discover Snapshot can help you take your advocacy goals to the next level:
Grow your community: Discover where your target patient population receives care. Use this data to 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. With Discover Snapshot, patient advocacy organizations can present the size and characteristics of their patient community, making a stronger case for new treatments, research funding, and industry partnerships.
Strengthen fundraising efforts: Use disease prevalence data to justify the need for funding and demonstrate the real-world impact of donations. Show potential donors and sponsors that your community is larger and more in need than they may realize.
Optimize event planning: Leverage geographic insights to plan family meetings, fundraisers, and awareness campaigns in the most impactful locations. Optimize in-person and virtual event strategies based on where your community is concentrated.
Take your advocacy further with data-driven insights: With GeneDx Discover Snapshot, you now have access to data that can help you amplify your impact, complement your efforts for funding, and advocate more effectively for your community.
Our proprietary database is one of the most comprehensive resources for genomic insights, built on decades of experience in genetic sequencing and clinical interpretation. Our data is not only vast but also deeply informative and representative of global populations, making it a critical asset for advancing precision medicine.
Deep: GeneDx has sequenced >750,000 exomes and genomes. Genomic sequencing dives deeper into a person’s DNA than more narrow testing such as chromosomal microarray (CMA), allowing for more comprehensive genetic insights.
Diverse: Approximately 50% of patients tested at GeneDx identify as having non-European heritage, making our dataset one of the most representative in genomic medicine. This diverse representation allows for more accurate variant classification across populations. It can also enable the development of more inclusive therapies, improve drug target identification, and support clinical trials that reflect real-world populations.
Vast: With more than 1,500,000 unique samples interpreted, we have built one of the largest genetic databases.
By combining depth, diversity, and scale, GeneDx is committed to ensuring every patient has access to the most advanced and equitable genetic insights available.
Note: The GeneDx Discover Snapshot includes patients identified by GeneDx in the US who are eligible for data sharing. It does not include data from other clinical or research laboratories. All data has been de-identified.
