Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project
Abstract Background In European Union countries, any disease affecting less than 5 people in 10,000 is considered rare. As expertise is scarce and rare diseases (RD) are complex, RD patients can remain undiagnosed for many years. The period of searching for a diagnosis, called diagnostic delay, some...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2024-01-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-024-03030-2 |
| _version_ | 1827328952357617664 |
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| author | Céline Angin Monica Mazzucato Stefanie Weber Kurt Kirch Waed Abdel Khalek Houda Ali Sylvie Maiella Annie Olry Anne-Sophie Jannot Ana Rath |
| author_facet | Céline Angin Monica Mazzucato Stefanie Weber Kurt Kirch Waed Abdel Khalek Houda Ali Sylvie Maiella Annie Olry Anne-Sophie Jannot Ana Rath |
| author_sort | Céline Angin |
| collection | DOAJ |
| description | Abstract Background In European Union countries, any disease affecting less than 5 people in 10,000 is considered rare. As expertise is scarce and rare diseases (RD) are complex, RD patients can remain undiagnosed for many years. The period of searching for a diagnosis, called diagnostic delay, sometimes leads to a diagnostic dead end when the patient’s disease is impossible to diagnose after undergoing all available investigations. In recent years, extensive efforts have been made to support the implementation of ORPHA nomenclature in health information systems (HIS) so as to allow RD coding. Until recently, the nomenclature only encompassed codes for specific RD. Persons suffering from a suspected RD who could not be diagnosed even after full investigation, could not be coded with ORPHAcodes. The recognition of the RD status is necessary for patients, even if they do not have a precise diagnosis. It can facilitate reimbursement of care, be socially and psychologically empowering, and grant them access to scientific advances. Results The RD-CODE project aimed at making those patients identifiable in HIS in order to produce crucial epidemiological data. Undiagnosed patients were defined as patients for whom no clinically-known disorder could be confirmed by an expert center after all reasonable efforts to obtain a diagnosis according to the state-of-the-art and diagnostic capabilities available. Three recommendations for the coding of undiagnosed RD patients were produced by a multi-stakeholder panel of experts: 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’ identification in Europe and beyond; 3/ Use additional descriptors in registries. Conclusions 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 RD 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. |
| first_indexed | 2024-03-07T15:25:51Z |
| format | Article |
| id | doaj.art-8779247dca114d259e89e33baec1d752 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-07T15:25:51Z |
| publishDate | 2024-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-8779247dca114d259e89e33baec1d7522024-03-05T16:43:03ZengBMCOrphanet Journal of Rare Diseases1750-11722024-01-011911910.1186/s13023-024-03030-2Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE projectCéline Angin0Monica Mazzucato1Stefanie Weber2Kurt Kirch3Waed Abdel Khalek4Houda Ali5Sylvie Maiella6Annie Olry7Anne-Sophie Jannot8Ana Rath9French National Rare Disease Registry (BNDMR), Greater Paris University Hospitals (AP-HP)RD Coordinating Centre, Veneto Region, Padua University HospitalBfArMBfArMInsermInsermInsermInsermFrench National Rare Disease Registry (BNDMR), Greater Paris University Hospitals (AP-HP)InsermAbstract Background In European Union countries, any disease affecting less than 5 people in 10,000 is considered rare. As expertise is scarce and rare diseases (RD) are complex, RD patients can remain undiagnosed for many years. The period of searching for a diagnosis, called diagnostic delay, sometimes leads to a diagnostic dead end when the patient’s disease is impossible to diagnose after undergoing all available investigations. In recent years, extensive efforts have been made to support the implementation of ORPHA nomenclature in health information systems (HIS) so as to allow RD coding. Until recently, the nomenclature only encompassed codes for specific RD. Persons suffering from a suspected RD who could not be diagnosed even after full investigation, could not be coded with ORPHAcodes. The recognition of the RD status is necessary for patients, even if they do not have a precise diagnosis. It can facilitate reimbursement of care, be socially and psychologically empowering, and grant them access to scientific advances. Results The RD-CODE project aimed at making those patients identifiable in HIS in order to produce crucial epidemiological data. Undiagnosed patients were defined as patients for whom no clinically-known disorder could be confirmed by an expert center after all reasonable efforts to obtain a diagnosis according to the state-of-the-art and diagnostic capabilities available. Three recommendations for the coding of undiagnosed RD patients were produced by a multi-stakeholder panel of experts: 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’ identification in Europe and beyond; 3/ Use additional descriptors in registries. Conclusions 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 RD 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.https://doi.org/10.1186/s13023-024-03030-2Rare diseasesUndiagnosed patientsCodingORPHAcodesHealth information systemsDiagnosis |
| spellingShingle | Céline Angin Monica Mazzucato Stefanie Weber Kurt Kirch Waed Abdel Khalek Houda Ali Sylvie Maiella Annie Olry Anne-Sophie Jannot Ana Rath Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project Orphanet Journal of Rare Diseases Rare diseases Undiagnosed patients Coding ORPHAcodes Health information systems Diagnosis |
| title | Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project |
| title_full | Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project |
| title_fullStr | Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project |
| title_full_unstemmed | Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project |
| title_short | Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project |
| title_sort | coding undiagnosed rare disease patients in health information systems recommendations from the rd code project |
| topic | Rare diseases Undiagnosed patients Coding ORPHAcodes Health information systems Diagnosis |
| url | https://doi.org/10.1186/s13023-024-03030-2 |
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