Key Takeaways
- GeneDx Infinity™ contains one of the largest rare disease datasets available for research
- The dataset supports cardiomyopathy research with real-world genetic and phenotypic insights.
- GeneDx Infinity™ captures phenotype data at the point of genetic testing rather than relying on claims-based datasets.
- Researchers and biopharma organizations can use the data to better understand patient journeys and disease complexity.
Why Real-World Cardiomyopathy Data Is Critical for Research and Drug Development
Cardiomyopathy is among the most common inherited cardiac conditions — and among the most genetically underserved. Despite decades of guideline recommendations from every major cardiology society, less than 1% of eligible patients receive genetic testing. The vast majority of patients are managed without ever knowing the molecular cause of their disease.
That gap is exactly what makes large, genetically characterized cohorts so rare — and so valuable. For biopharma teams developing therapies in this space, finding patients who have undergone genetic testing is one of the hardest problems in clinical development. Most cardiomyopathy patients have never been genetically tested. Those who have represent a uniquely important population.
The urgency is real. Until recently, there were no FDA-approved treatments specific to genetic cardiomyopathy. There are now two, but both target a subset of HCM patients. For the majority of patients with genetic cardiomyopathy, no disease-modifying therapy is available — though many are in development.
GeneDx Infinity™ — one of the world's largest genomics datasets — includes one of the largest genetically tested cardiomyopathy cohorts available, capturing both the clinical phenotype and the underlying genetic findings, linked with claims data, for a comprehensive view of patient journeys with representative scale..
What GeneDx Infinity™ Reveals About Real-World Cardiomyopathy Data
GeneDx Infinity™ is built from more than 2.5 million genetic tests, including one million exomes and genomes sequenced, and more than 8 million mapped phenotypic data points. Clinical abstractors at GeneDx review test requisition forms, medical records, lab and imaging results, and family history submitted by providers to identify relevant clinical features, which are then mapped to standardized HPO terms. This phenotypic layer is supplemented by EHR data and linked to longitudinal claims data to illuminate the full patient journey.
Within this dataset, cardiomyopathy represents one of the most genetically complex and clinically significant disease categories.
Cardiomyopathy Types Captured in GeneDx Infinity™ Data
GeneDx Infinity™ captures clinical information from ordering clinicians and maps it to standardized HPO terms, enabling structured analysis across cardiomyopathy types. The dataset includes patients across the major cardiomyopathy types: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ACM), and other forms.
For researchers and biopharma teams, HCM, DCM, and ACM are distinct diseases with different genetic architectures, clinical trajectories, and therapeutic targets — not interchangeable types of one condition. GeneDx Infinity™ provides both the volume and the genetic characterization to support research across all three.
Why Real-World Cardiomyopathy Data Matters for Drug Development
Biopharma companies working in cardiomyopathy fall into two broad categories, each with distinct data needs. GeneDx Infinity™ serves both.
For companies developing gene-specific therapies
Companies developing gene therapies, RNA-based treatments, or allele-specific approaches need to find patients whose cardiomyopathy is caused by a specific gene. For example, companies developing gene therapy for BAG3-related dilated cardiomyopathy need to identify and characterize patients carrying pathogenic variants in that gene specifically. GeneDx Infinity™ captures variant-level data at the point of genetic testing — enabling researchers to build cohorts by gene, study natural history, inform trial eligibility criteria, and identify patients for clinical trials.
For companies developing diagnosis-focused therapies
Other companies are developing therapies for a given type of cardiomyopathy — for example, treatments for HCM regardless of the underlying genetic cause. For these organizations, genetic data serves a different purpose: characterizing the patient population, understanding how genetic background influences treatment response, and identifying which patients are most likely to benefit. GeneDx Infinity™ provides both the phenotypic depth to identify patients by cardiomyopathy type and the genetic data to enable these analyses.
For both segments, natural history data on patients of interest is valuable. GeneDx Infinity’s linkage with EHR and longitudinal claims data enables researchers to study disease progression, clinical endpoints, natural history variables, and outcomes over time — data that claims alone cannot provide, and that cardiomyopathy companies increasingly need for trial design and regulatory submissions.
A Cardiomyopathy Cohort Across Pediatric and Adult Populations
GeneDx’s cardiomyopathy cohort spans the full age spectrum. More than 9,100 patients were tested after age 45, reflecting the growing role of genetic testing in adult cardiology — particularly in cases of unexplained heart failure, family history of sudden cardiac death, or late-onset disease. The cohort also captures earlier presentations: approximately 2,500 patients were tested before age five, and ~1,200 in their first year of life. For researchers and biopharma teams designing trials that require adult or age-stratified cohorts, this breadth matters.
A Diverse Cardiomyopathy Dataset for Inclusive Research
Approximately 50% of the cardiomyopathy cohort is of European ancestry, with 20% admixed American and 18% of African descent, along with meaningful representation across East Asian, Middle Eastern, and South Asian populations. For biopharma companies striving to design increasingly inclusive trials — and for researchers studying how cardiomyopathy presents across different genetic backgrounds — this diversity is a practical asset.
Where Genetically Tested Cardiomyopathy Patients Receive Care
GeneDx Infinity™ captures both who is being tested and where. In cardiomyopathy, the clinical diagnosis is made by the cardiologist through imaging and clinical evaluation. The genetic test identifies the underlying cause.
Ordering clinician data across more than 5,000 providers who have tested cardiomyopathy patients — spanning cardiology, genetics, and other specialties — gives biopharma teams a direct view into the clinical landscape. Which health systems are actively pursuing genomic workups for cardiac patients? Which regions have high concentrations of genetically tested cardiomyopathy patients? Where are testing rates still low, suggesting underdiagnosis?
This geographic and site-of-care intelligence is directly actionable for biopharma teams designing clinical trials. It informs site selection, patient recruitment strategy, and engagement planning — reducing the time and cost of identifying where eligible patients actually receive care.
Research Applications of GeneDx Infinity™
GeneDx Discover gives researchers, biopharma, and biotech teams a way to evaluate cardiomyopathy patient populations using real-world genomic and phenotypic data. Key dimensions available through the platform include:
Gene-level counts. Counts of individuals with pathogenic or likely pathogenic findings in specific cardiomyopathy-associated genes within GeneDx's dataset.
Patient demographics. Age at testing, current age, reported ancestry, and sex — enabling analysis of how cardiomyopathy presents and is tested across different populations.
Geographic distribution. Visualization of where patients received care, supporting trial site selection, and regional engagement strategies.
Phenotypic and genotypic data. Both the clinical presentation and the underlying genetic findings, enabling research that connects clinical phenotype to molecular cause.
Why Genetic Testing Data Matters in Cardiomyopathy Research
Claims databases can identify cardiomyopathy patients. EHR systems can surface clinical detail. But neither starts from the genetic test — and for cardiomyopathy, that’s where the most actionable data lives.
GeneDx Infinity™ begins at the point of clinical genetic testing. When a clinician orders a test for a cardiomyopathy patient, the clinical phenotype — the type of cardiomyopathy, presenting features, and family history — are captured alongside variant-level genetic results. That genetic layer is what Infinity uniquely provides: which gene is responsible, which variant is driving disease, and whether the finding is pathogenic.
Infinity then layers claims and EHR data on top — connecting genetic findings to longitudinal clinical outcomes, healthcare utilization, and the broader patient journey. The result is a dataset that combines the strengths of each source: the genetic depth that only comes from diagnostic testing, the clinical context from EHR, and the longitudinal view from claims.
For cardiomyopathy — where genetic testing can change clinical management, risk stratification, and family screening — that combination matters.
Interested in exploring cardiomyopathy data for your research program? GeneDx Discover provides aggregated, de-identified genomic and phenotypic insights to help researchers and biopharma teams evaluate patient populations and inform early R&D decisions.
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