Unlocking faster biopharma innovation and AI-driven discovery.
The largest genomic dataset for rare disease and beyond—integrated with longitudinal claims and phenotypic data to accelerate discovery, clinical development, and regulatory evidence generation.
GeneDx Infinity™
Genomically confirmed. Longitudinally connected.
Built for rare and beyond.
Rare disease drug development is too important to rely on inference. Infinity begins with genetically confirmed patients-then connects their real-world journeys over time. 60% of data includes parental data. More than 50% of data is from non-European ancestry.
Molecularly confirmed genomic data
- ~2.5M genetic tests performed
- 1M+ exomes and genomes sequenced
- Standardized, clinically interpreted variant data generated directly in GeneDx labs with 400K contactable patients and providers
Deep phenotypic data
- 8M+ structured phenotypic data points
- Clinically curated disease characterization
- Gene–phenotype associations at scale
Longitudinal Real-World data
- Integrated claims data
- 92% overlapping patient tokens with Komodo’s Research Dataset
- Open and closed claims-based events for patients with Medicare, Medicaid, and commercial insurance
Built from diagnosis. Strengthened with every patient.
GeneDx Infinity™ is built directly from GeneDx’s clinical diagnostic solutions-rooted in whole exome and genome testing and trusted by specialists nationwide.
As the #1 genomic test in rare disease from 75K healthcare providers and growing, we capture data at diagnosis across the U.S.-not through aggregation or fragmented sources.
With every new patient diagnosed, Infinity™ grows in depth and longitudinal insight.
#1
Genomic test in rare disease and the top choice among pediatric and genetic specialists.
Insights at every stage, from discovery to launch
The right data isn’t just comprehensive, it’s relevant to where you are in the development lifecycle. We give you the insights that best serve each step of the process.
Research and discovery
Unlock deeper insights with clinically rich genomic data
- Build and explore genetically confirmed cohorts
- Validate targets and discover biomarkers from a database of large affected populations
- Analyze prevalence, phenotypes, and geography
- Enable genotype/phenotype studies
- Build cohorts by gene, variant, or diagnosis
- Track longitudinal testing trends
- Inform trial and biomarker design with clinical insights
- Conduct variant reanalysis and reclassification
Market Strategy
Turn genomic data into actionable market intelligence
- Size genetically defined populations and forecast testing trends
- Map cohort distribution by region, age, ethnicity, and more
- Stratify patients by gene, variant, and clinical features
- Evaluate variant impact across populations
- Analyze ordering trends to guide go-to-market strategy
Clinical Development
Streamline your trial design and recruitment
- Design smarter trials with genotype–phenotype data
- Define inclusion/exclusion criteria with variant-level precision
- Identify ideal sites based on diagnosis and testing trends
- Match patients through linked genomic and clinical data
- Improve trial enrollment and feasibility with real-world data
- Recruit rare and hard-to-fill cohorts
Engagement
Targeted tactics to onboard clinicians and patients
- Activate clinicians and patients for precision outreach
- Rapidly identify patients who could be eligible for enrollment
- Reconnect with previously tested individuals, if the patient opts in
- Share trial opportunities with ordering providers
- Target consenting healthcare providers who treat high-volume target patient populations
- Drive awareness through targeted provider campaigns
Commercialization
Leverage genomic data for more impactful outcomes
- Study disease progression and treatment outcomes over time
- Link genomic data to EMRs and claims for deeper analysis
Data at the center.
Impact at every stage.
Partner at the level that moves your program forward — powered by the most comprehensive rare disease genomic dataset.
GeneDx Infinity™
The largest rare disease genomic dataset, longitudinally connected with phenotypic and claims data to illuminate the full patient journey.
Activation
Precision patient and provider outreach and engagement designed to accelerate trials and therapy adoption.
Evidence Generation
Regulatory-grade cohorts, natural history, and feasibility insights built directly from Infinity™.
Continuous Enrichment
Prospective genetic testing programs that continuously expand and strengthen the dataset.
Rare disease demands precision.
Patients deserve progress.
- Start with genetically confirmed insight.
- Design smarter trials.
- Accelerate development.
- Deliver meaningful impact.