Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey

Author:

Faye Fatoumata,Crocione ClaudiaORCID,Anido de Peña Roberta,Bellagambi Simona,Escati Peñaloza Luciana,Hunter Amy,Jensen Lene,Oosterwijk CorORCID,Schoeters Eva,de Vicente Daniel,Faivre Laurence,Wilbur Michael,Le Cam Yann,Dubief JessieORCID

Abstract

AbstractTimely diagnosis is one of the most serious challenges faced by people living with a rare disease (PLWRD), and this study estimates that in Europe, the average total diagnosis time (TDT) is close to 5 years. We investigated the duration of the TDT for PLWRD in Europe, the difficulties associated with their diagnosis odyssey and the main determinants of diagnosis delays for all rare diseases (RD). We conducted a survey of PLWRD and their families using Rare Barometer, the survey initiative of EURORDIS-Rare Diseases Europe. In geographical Europe, we surveyed 6507 people living with 1675 RD in 41 countries. We then performed a descriptive analysis and ordinal logistic regressions to identify the main determinants of diagnosis delays. Average TDT is 4.7 years. 56% of respondents were diagnosed more than 6 months after a first medical contact. The main determinants of diagnosis delays are symptom onset before 30 years of age, especially during childhood (OR = 3.11; 95% CI: 2.4–4.0) and adolescence (OR = 4.79; 95% CI: 3.7–6.2), being a woman (OR = 1.22; 95% CI:1.1–1.4), living in Northern Europe (OR = 2.15; 95% CI:1.8–2.6) or Western Europe (OR = 1.96; 95% CI:1.6–2.3), the number of healthcare professionals consulted (OR = 5.15; 95% CI:4.1–6.4), misdiagnosis (OR = 2.48; 95% CI:2.1–2.9), referral to a centre of expertise (OR = 1.17; 95% CI:1.0–1.3), unmet needs for psychological support (OR = 1.34; 95% CI:1.2–1.5) and financial support (OR = 1.16; 95% CI:1.0–1.3), having a genetic disease (OR = 1.33; 95% CI:1.1–1.5) and a family history of an RD (OR = 1.36; 95% CI:1.1–1.6). These determinants can inform policies and actions to improve access to diagnosis for all PLWRD.

Publisher

Springer Science and Business Media LLC

Reference34 articles.

1. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Guydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–73.

2. Kole A, Hedley V, et al. Recommendations from the Rare 2030 Foresight Study: the future of rare diseases starts today. 2021. Available from: https://download2.eurordis.org/rare2030/Rare2030_recommendations.pdf. Accessed 20 Mar 2024.

3. Austin CP, Cutillo CM, Lau LPL, Jonker AH, Rath A, Julkowska D.on behalf of the International Rare Disease Research Consortium (IRDiRC) et al. Future of rare disease research 2017-2027: an IRDiRC perspective. Clin Transl Sci. 2018;11:21–27.

4. Kole A, Faurisson F, The voice of 12,000 patients. Experiences and expectation of rare disease patients on diagnosis and care in Europe. EURORDIS. 2009. Available from: https://www.eurordis.org/publications/the-voice-of-12000-patients/. Accessed 20 Mar 2024.

5. Benito-Lozano J, López-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.

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