Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay

Juan Benito-Lozano, Greta Arias-Merino, Mario Gómez-Martínez, Alba Ancochea-Díaz, Aitor Aparicio-García, Manuel Posada de la Paz and Verónica Alonso-Ferreira
Additional contact information
Juan Benito-Lozano: Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029 Madrid, Spain
Greta Arias-Merino: Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029 Madrid, Spain
Mario Gómez-Martínez: Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029 Madrid, Spain
Alba Ancochea-Díaz: Spanish Federation of Rare Diseases (FEDER), 28009 Madrid, Spain
Aitor Aparicio-García: The State Reference Center for Assistance to People Living with Rare Diseases and Their Families (CREER), Centro de Referencia Estatal de Atención a Personas con Enfermedades Raras y sus Familias, Dependiente del IMSERSO, 09001 Burgos, Spain
Manuel Posada de la Paz: Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029 Madrid, Spain
Verónica Alonso-Ferreira: Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029 Madrid, Spain

IJERPH, 2022, vol. 19, issue 11, 1-14

Abstract: Many people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain the definitive diagnosis. The aim of this study was thus to ascertain the diagnostic process in RDs, and explore the determinants related with having to wait for more than one year in this process (defined as “diagnostic delay”). We conducted a case–control study, using a purpose-designed form from the Spanish Rare Diseases Patient Registry for data-collection purposes. A descriptive analysis was performed and multivariate backward logistic regression models fitted. Based on data on 1216 patients living with RDs, we identified a series of determinants associated with experiencing diagnostic delay. These included: 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); visiting more than 10 specialists (OR 2.6; 95%CI 1.7–4.0); being diagnosed in a region other than that of the patient’s residence at the date of symptom onset (OR 2.3; 95%CI 1.5–3.6); suffering from a RD of the nervous system (OR 1.4; 95%CI 1.0–1.8). In terms of time taken to see a specialist, waiting more than 6 months to be referred from the first medical visit was the period of time which most contributed to diagnostic delay (PAR 30.2%). In conclusion, this is the first paper to use a collaborative study based on a nationwide registry to address the diagnostic process of patients living with RDs. While the evidence shows that the diagnostic process experienced by these persons is complex, more studies are needed to determine the implications that this has for their lives and those of their families at a social, educational, occupational, psychological, and financial level.

Keywords: rare diseases; diagnostic odyssey; diagnostic delay; time to diagnosis; diagnostic process; Spain; public health (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
References: View references in EconPapers View complete reference list from CitEc
Citations: View citations in EconPapers (1)

Downloads: (external link)
https://www.mdpi.com/1660-4601/19/11/6456/pdf (application/pdf)
https://www.mdpi.com/1660-4601/19/11/6456/ (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:gam:jijerp:v:19:y:2022:i:11:p:6456-:d:824461

Access Statistics for this article

IJERPH is currently edited by Ms. Jenna Liu

More articles in IJERPH from MDPI
Bibliographic data for series maintained by MDPI Indexing Manager ().