ROSEMONT, Ill., Feb. 25, 2026 /PRNewswire/ — In recognition of Rare Disease Day, IMO Health today announced the operationalization of Mondo rare disease knowledge within everyday clinical workflows, expanding access to research-grade rare disease definitions directly at the point of care. This advancement enables health systems to capture precise, structured rare disease data where it matters most, during clinical decision-making, addressing one of the primary drivers of underdiagnosis and delayed care.Through this expansion, IMO Health enables clinicians to document rare diseases using familiar clinical terms while seamlessly linking that documentation to the Mondo ontology behind the scenes. The result is clearer disease definition, improved data continuity, and greater confidence in diagnosis. These advances enable better care delivery and precision medicine for patients today while accelerating research into unmet needs and treatment efficacy to better serve patients in the future.Developed in collaboration with Dr. Melissa Haendel and the Monarch Initiative, creators and curators of the Mondo ontology, this work translates research-grade rare disease knowledge into clinician-friendly terms embedded directly within care workflows. Nearly 5,000 new rare disease diagnoses and more than 25,000 updated IMO Health terms are now mapped to Mondo, enabling consistent disease definition across clinical care, research, and analytics.This expanded terminology is now available for integration into EHRs, marking a significant step forward in operationalizing research-grade rare disease knowledge in real-world care environments. Broader deployment represents a meaningful step toward normalizing rare disease capture across routine care, enabling earlier identification, improved continuity, and the creation of high-fidelity, more complete longitudinal datasets that can support improving clinical outcomes and advancing research.“Rare disease patients often experience years of uncertainty before receiving an accurate diagnosis,” said Dr. Melissa Haendel, PhD, Director of Precision Health and Translational Informatics at the University of North Carolina School of Medicine and co-founder of the Monarch Initiative. “By bringing standardized, high-quality rare disease definitions into clinical workflows, IMO Health is helping ensure that patients, clinicians, and researchers are working from the same shared understanding – an essential foundation for effective diagnostics and care.”“By integrating Mondo into IMO Health’s extensive clinical vocabulary, we’re giving clinicians the tools they need to document rare diseases with greater specificity and confidence – helping patients reach answers faster and enabling health systems to fully leverage the power of high-quality, structured data,” said Kerri Grizer, VP of Product Management, Terminology Foundation Platform, IMO Health.For clinicians and health systems, embedding Mondo within everyday documentation supports meaningful improvements across the care continuum, including:
- Shorter time to diagnosis, driven by precise terminology aligned to a harmonized ontology that reflects current scientific and genetic understanding.
- Improved patient identification and cohorting, reducing false positives and minimizing manual chart review – benefits already demonstrated through early research collaborations using IMO Health’s rare disease lexicals mapped to Mondo.
- Stronger support for treatment planning and trial matching, as clinicians document using familiar IMO Health terms while Mondo IDs work behind the scenes to unify and clarify rare disease definitions.
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