RARE Daily

RD-CODE Project Issues Recommendation for Coding Undiagnosed Rare Disease Patients in EHRs

January 29, 2024

Rare Daily Staff

In Europe, while efforts have been made to include a means in electronic health records and registries to provide so-called ORPHAcodes, rare diseases specific nomenclature, no such coding exists for people with an undiagnosed rare disease.

The lack of a code for these patients not only makes it more difficult for them to access the care they need, but it also prevents healthcare systems from gathering critical epidemiological data to understand the scope of the diagnostic odyssey and improve care.

In 2017, the European Commission Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases selected the codification of rare diseases using ORPHAcodes as a priority area. In 2019, the RD-CODE project, supported by a grant in the framework of the Third EU Health Programme and coordinated by INSERM, was launched to support four Member States (Czech Republic, Malta, Romania, and Spain) to improve the gathering of information on rare diseases by implementing ORPHAcodes into routine code systems.

A new study from the RD-CODE project published in the Orphanet Journal of Rare Diseases provides recommendations to address challenges faced by rare disease patients who are undiagnosed by supporting the implementation of ORPHA nomenclature for them.

The RD-CODE project defined undiagnosed patients as patients for whom no clinically known disorder could be confirmed by a rare disease expert center after all reasonable efforts to obtain a diagnosis according to the state of the art and diagnostic capabilities available.

Three recommendations emerged from the study:

The first was that whenever possible, all rare disease patients’ diagnostic status should be captured, either as “suspected rare disease,” “confirmed rare disease,” or “undetermined rare disease.” The authors note this might be difficult to implement in existing hospital electronic health records or registries. The working group said it would be valid to use generic medical terminology, such as “rare epilepsy” or “neurodevelopmental disorder.”

Second, the group recommended the use of a new ORPHAcode dedicated to undiagnosed cases specifying a patient’s status as “undiagnosed.”

Finally, the group recommends that registries should also provide a phenotype and a genotype description of undiagnosed patients in addition to the undiagnosed code.

The absence of codes for patients with rare diseases can complicate their access to care and payment for treatment, but it also helps keep these patients invisible to the healthcare system and makes it difficult to gain a fuller picture of the rare disease landscape.

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