In European Union countries, a disease affecting less than 5 people in 10,000 is considered rare. Due to the scarcity of expertise and the complexity of rare diseases, patients may go undiagnosed for years. Efforts are made to incorporate ORPHA nomenclature into health information systems, allowing coding for rare diseases. Previously, this nomenclature only covered specific rare diseases, leaving those with undiagnosed conditions without codes. Recognition of rare diseases status is crucial for patients, aiding in care reimbursement, providing social and psychological empowerment, and granting access to scientific advances, even without a precise diagnosis.
The RD-CODE project aimed to identify undiagnosed patients in Health Information Systems for the purpose of gathering crucial epidemiological data. Undiagnosed patients were defined as those for whom no clinically-known disorder could be confirmed by an expert center despite all efforts to obtain a diagnosis. A multi-stakeholder panel of experts produced three recommendations for coding undiagnosed rare disease rare disease patients: 1/ Capture the diagnostic ascertainment for all rare disease cases; 2/ Use the newly created ORPHAcode (ORPHA:616874 “Rare disorder without a determined diagnosis after full investigation”), available in the Orphanet nomenclature: as the code is new, guidelines are essential to ensure its correct and homogeneous use for undiagnosed patients; 3/ Use additional descriptors in registries.
The recommendations can now be implemented in HIS (electronic health records and/or registries) and could be a game-changer for patients, clinicians and researchers in the field, enabling assessment of the rare disease population, including undiagnosed patients, adaptation of policy measures including financing for care and research programs, and to improved access of undiagnosed patients to research programs. Read the full article here.