GeneDx Showcases GeneDx Infinity™ Expansion and New Research Tools at ISPOR 2026
Today, we’re excited to announced new GeneDx Infinity™ data and tools to be featured at the ISPOR 2026 Conference to fuel biopharma drug discovery, accelerate clinical trials, and advance health economics outcomes research (HEOR).
At ISPOR, GeneDx will showcase the continued expansion of GeneDx Infinity – one of the world’s largest genomic datasets – alongside new tools designed to help biopharma partners and researchers explore the intersection of genomic and longitudinal health data.
GeneDx Infinity is growing rapidly – adding 30% more genomic tests in 2025 than the prior 24 years combined – and each patient tested contributes more data to Infinity, which now includes:
- More than 2.5 million genetic tests, including over 1 million exomes and genomes
- More than 1.4 billion clinical datapoints, including clinical notes
- More than 8 million mapped phenotypic datapoints
- Integrated longitudinal claims data from Komodo Health’s Research Dataset, spanning 7 years on average and 92% overlap
- More than 1.5 million contactable patients, representative of the US
GeneDx Infinity data includes genetically confirmed patients at superior scale and diversity – with broad representation across pediatric and adult conditions spanning rare disease, neurology, neurodevelopmental disorders, epilepsy, cardiovascular disease, metabolic disease, oncology, and additional therapeutic areas, including cardiomyopathy.
“More than 90% of therapeutic programs fail today – often after years of development and billions of dollars invested. The difference between success and failure can be access to high-quality genetic evidence that can increase the probability of clinical and commercial success,” said Lisa Gurry, Chief Business Officer at GeneDx. “GeneDx Infinity delivers real-world evidence generation at scale. By integrating deeply phenotypic genomic data with longitudinal clinical and claims data, GeneDx Infinity helps biopharma partners validate targets, better understand disease progression, identify high-value patient populations, accelerate clinical trials, and uncover insights that can shorten the path to treatment.”
New tools for biopharma enable data visualization and exploration
GeneDx will also introduce GeneDx Infinity Vista™ a new tool that integrates genomic and longitudinal claims insights to provide dynamic visibility into diagnoses, treatments, healthcare utilization, and patient pathways across therapeutic areas. GeneDx Infinity Vista helps people visualize the possibilities within GeneDx Infinity across a broad range of individual conditions down to specific gene variants.
In addition, GeneDx will showcase major enhancements to GeneDx Discover™, its interactive genomic cohort exploration tool. New capabilities include expanded search and filtering functionality for Human Phenotype Ontology (HPO) and International Classification of Diseases (ICD)-10 and copy number variant filtering, enhanced variant annotation visibility, and improved patient, provider, and test-level insights. Backend infrastructure upgrades and Sigma dashboard integration also significantly improve platform speed and performance.
Fit-for-Purpose data, now with SOC2 Type 1 certification
These advancements build on GeneDx’s continued investment in fit-for-purpose data infrastructure and operational excellence, including recently achieving System and Organization Controls (SOC)2 Type 1 certification. The company’s capabilities are supported by more than 25 years of genomic diagnostics leadership, including CLIA and CAP-certified laboratory operations and FDA Breakthrough Device designation for ExomeDx® and GenomeDx®.
GeneDx has invested heavily in data integrity, clinical accuracy, and variant validation. All variants originate from clinical diagnostic testing, with full source traceability and layered quality controls spanning the lab and analytical workflow. GeneDx Infinity is built with rigorous de-identification standards and validated controls to support high data quality and reliability.
New HEOR research to be shared at ISPOR
At ISPOR, GeneDx will also present new HEOR research, powered by GeneDx Infinity and conducted in collaboration with Citizen Health, examining the impact of prolonged diagnostic odysseys in children with neurodevelopmental disorders [LG1] [CF2]. The mixed-methods study combined parent interviews with real-world medical record data from children who ultimately received a genetic diagnosis through GeneDx exome sequencing after years of inconclusive evaluations.
Key findings included:
- Diagnostic odysseys lasting 4.5 to 8 years before genetic diagnosis
- Patients averaging 4 ER visits, 9 clinic visits, and 10 diagnostic tests annually prior to exome sequencing
- One family traveling more than 9,400 miles over eight years seeking specialist care
- First-line exome sequencing potentially reducing diagnostic delays by approximately 4.5 years per patient
- Annual healthcare utilization declining by 77–85% following diagnosis
The findings reinforce the importance of earlier genomic testing and more streamlined diagnostic pathways for patients with suspected genetic conditions.
Poster Session 2
Poster Code: PCR62
Monday, May 18, 2026 | 4:00 PM – 7:00 PM
Discussion Period: 6:00 PM – 7:00 PM
