GeneDx and Komodo Health partner to link genomic and real-world data for rare disease evidence generation 

A new collaboration between GeneDx and Komodo Health aims to combine large-scale genomic insights with longitudinal real-world data (RWD) to support health economics and outcomes research (HEOR), biopharma development, and evidence generation in rare diseases. 

The partnership is intended to create what the companies describe as the most comprehensive longitudinal dataset for rare disease. By linking GeneDx’s genomic and phenotypic data with Komodo Health’s real-world patient insights, the collaboration seeks to deliver a more complete picture of how rare diseases are diagnosed, managed, and treated across the patient journey. 

At the center of the partnership is GeneDx Infinity™, the company’s rare disease genomic dataset built on more than 25 years of clinical testing and interpretation. Infinity includes data from more than 2.5 million genetic tests, enriched for rare disease, and over 7 million phenotypic data points. More than half of the individuals represented are of non-European ancestry, expanding the diversity of populations reflected in the dataset for rare disease research and diagnosis. 

These genomic and phenotypic data will be linked with Komodo Health’s Healthcare Map®, a longitudinal, de-identified view of healthcare encounters covering more than 330 million patients. Through the Komodo Research Dataset, the integration draws on insights from open and closed claims across Medicare, Medicaid, and commercial insurance populations, including diagnoses, procedures, encounters, payer segments, and imputed allowed amounts. This linkage is intended to connect molecular-level insights with real-world care patterns at scale. 

By combining these sources, the collaboration aims to extend analysis beyond diagnosis to examine real-world care pathways, utilization patterns, outcomes, and unmet needs. The resulting dataset is positioned to support HEOR, biopharma research and development, and evidence generation grounded in routine clinical practice. Commenting on the collaboration, Lisa Gurry, Chief Business Officer at GeneDx, said: 

“GeneDx Infinity is redefining what’s possible in rare disease. By integrating patient insights from Komodo’s Healthcare Map with our unmatched genomic and phenotypic data, we are creating the most comprehensive longitudinal view of rare disease to date. This partnership accelerates HEOR, advances biopharma innovation, and brings us closer to a future where patients get answers – and access to effective therapies – faster than ever before.” 

From Komodo Health’s perspective, the partnership reflects a broader effort to connect genomics with RWE in ways that are actionable for healthcare stakeholders. Miles Ennis, Chief Operating Officer at Komodo Health, stated: 

“To meaningfully improve outcomes in rare disease, we must create a truly connected view of genomic data, clinical practice, and real‑world evidence.” 

The combined dataset is expected to support multiple use cases across the rare disease lifecycle. These include HEOR analyses to quantify disease burden, map diagnostic pathways, and assess real-world treatment impact. The dataset may also support research and development activities, such as natural history studies, target identification, and patient stratification through the linkage of genomic data with patterns of care. In addition, it is intended to inform clinical trial planning by enabling more precise cohort identification, feasibility assessments, and the development of external control arms. The integration is also intended to support market access and value demonstration by enabling engagement with payers and policymakers using evidence based on real-world utilization and outcomes, while enabling advanced analytics and AI applications through the responsible use of multimodal data. 

Both companies emphasize that all data integration and analysis will be conducted using de-identified, privacy-preserving methodologies, with safeguards in place to ensure regulatory compliance, data security, and ethical use.