DetERminants and impact of diagnostic delay in people living with a RD in Spain
Determinants and impact of diagnostic delay in people living with a rare disease in Spain
Juan Benito-Lozano1✉ORCID, Greta Arias-Merino1ORCID, Beatriz Arconada-López2, Mario Gómez-Martínez1ORCID, Begoña Ruiz García3, Verónica Alonso Ferreira1ORCID
- 1 Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII)
- 2 Spanish Federation of Rare Diseases (FEDER)
- 3 National Reference Center for care of People with Rare Diseases and their Families (Creer), belonging to Institute for Older Persons and Social Services (Imserso)
Received 27 October 2026 · Accepted 27 October 2026 · Published 27 October 2026
DOI: https://doi.org/10.5281/zenodo.23695402
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Key messages
- More than half of people with rare diseases in Spain experience diagnostic delay, especially women and those with mental and behavioural disorders
- Having to travel to see different specialists outside the home province and consulting many specialists increase the risk of diagnostic delay
- Diagnostic delay is associated with greater psychological and social impact, increasing the need for psychological care
Abstract
Introduction
According to the International Rare Diseases Research Consortium (IRDiRC), all known rare diseases (RD) should be diagnosable within a year. Therefore, to wait more than one year could be considered diagnosis delay. This project aims to know the overall figures of the diagnosis of people affected by a rare disease (RD) in Spain, the clinical determinants that increase the risk of having a delayed diagnosis and their psychological and social impact by comparing their situation with those in whom the diagnosis has arrived in one year or less.
Materials and methods
A purpose-designed form from the Spanish RD Patient Registry for data-collection purposes was used. Three institutions linked to the RD collective in Spain collaborated in the study: IIER-ISCIII (research centre), FEDER (patient advocacy groups) and CREER (public administration).
Results
Main results were published in three open access scientific articles: 56.4% of people had experienced delay in diagnosis of their RDs, being higher in women (OR 1.25; 95% CI 1.07-1.45); those with symptom onset at age 30-44 years (OR 1.48; 95% CI 1.19-1.84); and in mental and behavioural disorders (OR 4.21; 95% CI 2.26-7.85). Some determinants associated with experiencing DD were having to travel to see a specialist other than that usually consulted in the patient's home province (OR 2.1; 95% CI 1.6-2.9); or visiting more than 10 specialists (OR 2.6; 95% CI 1.7-4.0). People who underwent DD experienced greater psychological and social impact than those diagnosed within the first year of disease (36.2% vs 23.2% needed psychological care; p = 0.002).
Conclusion
These findings provide insight into the determinants that have the greatest influence on delayed diagnosis. It will also contribute to develop recommendations to reduce the time required to obtain a diagnosis, as well as correct social inequalities and improve the quality of life of people who live with a RD.
Original poster
References
- Benito-Lozano J, Lopez-Villalba B, Arias-Merino G, Posada de la Paz M, Alonso-Ferreira V. Diagnostic delay in Rare Diseases: data from the Spanish Rare Diseases Patient Registry. Orphanet J Rare Dis. 2022;17: 418.
- Benito-Lozano J, Arias-Merino G, Gómez-Martínez M, Ancochea-Díaz A, Aparicio-García A, Posada de la Paz M, Alonso-Ferreira V. Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay. Int J Environ Res Public Health. 2022;19(11): 6456.
- Benito-Lozano J, Arias-Merino G, Gómez-Martínez M, Arconada-López B, Ruiz-García B, Posada de la Paz M, Alonso-Ferreira, V. Psychosocial impact at the time of a rare disease diagnosis. PLoS ONE. 2023;18(7): e0288875.
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