New AAP Guidance: Exome and genome sequencing recommended as first-line tests. Learn more

Power your next breakthrough with the right data.

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Thousands of rare diseases. Endless variants.

Accelerate drug development with actionable insights from our in-depth database.

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.

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  • Build and explore genetically confirmed cohorts
  • Validate targets and discover biomarkers from 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
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  • 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
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  • 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
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  • Activate clinicians and patients for precision outreach
  • Rapidly identify patients who could be eligible for enrollment
  • Reconnect with previously tested individuals
  • Share trial opportunities with ordering providers
  • Target consenting healthcare providers who treat high-volume target patient populations
  • Drive awareness through targeted provider campaigns
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  • Study disease progression and treatment outcomes over time
  • Link genomic data to EMRs and claims for deeper analysis

Instant access with GeneDx Discover

Use the GeneDx Discover product–your personal genomic search engine–to explore genotypes, phenotypes, and variant-level insights that can drive early-stage strategy.

Data that drives discovery

Powered by one of the world’s largest rare disease databases

Includes 1.5M+ unique samples, including 850K+ sequenced exomes and genomes, and 7M+ expertly annotated phenotypes

Expansive diversity and representation

A richly diverse dataset—nearly 50% non-European ancestry—drives more accurate rare variant interpretation and inclusive discovery

Deeper insights beyond genetic sequencing data

In addition to genetic data, we provide phenotype data and enable longitudinal insights through tokenization—giving your drug development the clinical depth it needs

We make it easy to get started—and even easier to scale.

From day one, our cross-functional team of clinical, regulatory, and operational experts work closely with you.

Here’s how it works

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Share your goals

Define your target population, variant type, or outcome of interest

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Get curated data

Receive customized datasets, analytics, and partnership options aligned to your objectives

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Turn insights into action

Apply real-world data to accelerate discovery, inform development, and support launch with confidence

Proven success. Real impact.

Leading biopharma teams trust us to deliver the data and answers that drive results.

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