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Enhancing Precision in Rare Disease Diagnosis

In recognition of Rare Disease Day, IMO Health has taken a pioneering step by operationalizing Mondo rare disease knowledge within everyday clinical settings. This innovative integration enables healthcare professionals to incorporate precise, structured definitions of rare diseases directly into their workflows, thereby addressing significant gaps in diagnosis and patient care. By bridging clinical practice with research-grade knowledge, IMO Health aims to transform how rare diseases are documented and understood within health systems.

The Challenge of Rare Disease Diagnosis

Patients suffering from rare diseases often endure long periods of uncertainty before receiving accurate diagnoses. According to Dr. Melissa Haendel, who is a key figure in the development of this initiative, integrating Mondo’s standardized terminology into clinical workflows ensures that patients, clinicians, and researchers share a common framework. This is crucial for effective diagnostics and facilitating timely care.

A Collaborative Effort

The operationalization was achieved in collaboration with Dr. Haendel and the Monarch Initiative, which is responsible for curating the Mondo ontology. Nearly 5,000 new rare disease diagnoses and over 25,000 terms have been mapped to Mondo, providing clinicians with a tool that allows for more consistent documentation. This not only fosters clearer definitions of diseases but also enhances data continuity and instills greater confidence in diagnoses, a benefit for both clinicians and patients.

Real-World Implications of the Integration

This comprehensive terminology is now easily accessible for integration into electronic health records (EHRs), marking a pivotal progress in the normalization of rare disease documentation across routine care. The ability to collect this data consistently at the source enables health systems to improve clinical outcomes through better identification and management of rare diseases.

According to early research using IMO Health’s rare disease lexicons, the integration of Mondo has demonstrated significant implications for patient identification. For example, a study conducted at Cincinnati Children's Hospital found that using the IMO Health terminology allowed healthcare professionals to identify 5.5 times more diseases and 20% more patients than conventional ICD-10 coding systems. Such improvements highlight the power of incorporating advanced terminologies into everyday medical practice.

Enhancing Clinical Continuity

Embedding Mondo within clinical documentation supports several key outcomes:

• - Faster Time to Diagnosis: By utilizing precise terminologies aligned with a harmonized ontology, healthcare providers can reduce the time it takes to arrive at an accurate diagnosis.
• - Improved Patient Cohorting: Enhanced accuracy in documentation minimizes the incidents of false positives while alleviating the need for extensive manual chart reviews.
• - Strengthened Treatment Planning: Health systems can deliver better-informed treatment strategies and improve patient care through clearer documentation of rare disease cases.

Dr. Jing Chen, an associate professor of pediatrics and biomedical informatics, noted that the integration expands coverage of rare genetic diseases from 51% to 75% in the Mondo database. With over 99% precision still maintained, these findings indicate that a well-structured clinical vocabulary can significantly streamline rare disease identification.

A Vision for the Future

As rare disease data becomes more routinely captured, health systems and life sciences organizations stand to benefit from a coherent and computable understanding of diseases. Such advancements lay the groundwork for more precise clinical cohort identification, improved trial feasibility analysis, and comprehensive real-world evidence collection. This is pivotal for enhancing patient care experiences and outcomes.

By embedding this vital knowledge into medical workflows, IMO Health not only contributes to immediate improvements in clinical practice but also sets the stage for next-generation healthcare analytics and artificial intelligence solutions. In doing so, it brings much-needed visibility to a group of patients who face significant challenges in seeking appropriate care.

IMO Health's commitment to enhancing the understanding and management of rare diseases reflects a broader goal: to transform the healthcare landscape by leveraging the power of structured, research-grade data in clinical settings. To learn more about these advancements, visit IMO Health.