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

Timely 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 wit...

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Vydané v:European journal of human genetics : EJHG Ročník 32; číslo 9; s. 1116 - 1126
Hlavní autori: Faye, Fatoumata, Crocione, Claudia, Anido de Peña, Roberta, Bellagambi, Simona, Escati Peñaloza, Luciana, Hunter, Amy, Jensen, Lene, Oosterwijk, Cor, Schoeters, Eva, de Vicente, Daniel, Faivre, Laurence, Wilbur, Michael, Le Cam, Yann, Dubief, Jessie
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: England Nature Publishing Group 01.09.2024
Predmet:
Adolescent
Adult
Aged
Child
Child, Preschool
Children
Delayed Diagnosis - statistics & numerical data
Diagnosis
DNA nucleotidylexotransferase
Europe - epidemiology
Female
Genetic disorders
Humans
Infant
Male
Middle Aged
Rare diseases
Rare Diseases - diagnosis
Rare Diseases - epidemiology
Rare Diseases - genetics
Retrospective Studies
Surveys
Surveys and Questionnaires
Europe
ISSN:1018-4813, 1476-5438, 1476-5438
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Shrnutí:Timely 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.
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ISSN:1018-4813
1476-5438
1476-5438
DOI:10.1038/s41431-024-01604-z