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Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay

Author

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  • Juan Benito-Lozano

    (Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029 Madrid, Spain
    Universidad Nacional de Educación a Distancia (UNED), 28015 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
    These authors contributed equally to this work.)

  • Verónica Alonso-Ferreira

    (Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029 Madrid, Spain
    Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain
    These authors contributed equally to this work.)

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.

Suggested Citation

  • Juan Benito-Lozano & Greta Arias-Merino & Mario Gómez-Martínez & Alba Ancochea-Díaz & Aitor Aparicio-García & Manuel Posada de la Paz & Verónica Alonso-Ferreira, 2022. "Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay," IJERPH, MDPI, vol. 19(11), pages 1-14, May.
    • Handle: RePEc:gam:jijerp:v:19:y:2022:i:11:p:6456-:d:824461
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    References listed on IDEAS

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    1. Roll, Kathrin, 2012. "The influence of regional health care structures on delay in diagnosis of rare diseases: The case of Marfan Syndrome," Health Policy, Elsevier, vol. 105(2), pages 119-127.
    2. Blankart, Carl Rudolf, 2012. "Does healthcare infrastructure have an impact on delay in diagnosis and survival?," Health Policy, Elsevier, vol. 105(2), pages 128-137.
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    Cited by:

    1. Manuela Priolo & Marco Tartaglia, 2023. "The Right to Ask, the Need to Answer—When Patients Meet Research: How to Cope with Time," IJERPH, MDPI, vol. 20(5), pages 1-10, March.

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