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Reactions to the new mapping of rare disease diagnoses in Spain since 1960

A team of researchers from the Health Institute Carlos III has published an article quantifying the diagnostic delay of rare diseases in Spain with data from the period 1960-2021. The study reveals that more than half of the patients experienced a delay in diagnosis, that the average delay exceeds six years, and that both the percentage of those affected by the delay and the average time have decreased over the years.

13/12/2022 - 11:02 CET

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Expert reactions

Lluís Montoliu - mapa enfermedades raras EN

Lluís Montoliu

Research professor at the National Biotechnology Centre (CNB-CSIC) and at the CIBERER-ISCIII


Science Media Centre Spain

It is an interesting and unique study, in that it uses data from around 3,300 patients with a rare disease from the Spanish registry of patients with rare diseases between 1960 and 2021. The aim is to assess the delay in obtaining genetic diagnosis. A delay of just over six years on average is still far from the objectives of the International Rare Diseases Research Consortium (IRDiRC), which aims to achieve a diagnosis in less than a year from the time the patient requests medical care.  

Logically, the delay has been decreasing over the years, as technology has evolved. The conclusions of this study are on the other hand quite similar to previous studies, such as the three EnSerio studies (Study on the Situation of Social and Health Care Needs of People with Rare Diseases in Spain) carried out by the Spanish Federation for Rare Diseases (FEDER) in 2009, 2013 and 2017, based on interviews with patients (between 700 and 1600), the latest edition of which the authors cite.  

The delay in genetic diagnosis obtained in the EnSerio studies, on average, is also between four and six years. There are also comparable analyses carried out by the health departments of some autonomous communities. Hence, many researchers in this field have been indicating for some time now that the average delay in the genetic diagnosis of rare diseases in Spain is about five years. However, we should not forget that the number of people affected by a rare disease in Spain is around 3 million people. Therefore, it would be opportune to obtain data from larger cohorts of patients than any of the studies carried out so far. In short, a new confirmation that we need to make a greater effort in our country, to invest in personnel, resources and technologies, in order to meet the IRDiRC objectives that we have committed to achieve.

"I cite FEDER, the Spanish Federation for Rare Diseases, as a national reference institution in the field of rare diseases. FEDER is a member of the External Scientific Advisory Committee and of the Patient Advisory Council of the Centre for Biomedical Research on Rare Diseases Network (CIBERER) to which I belong and of which I am part of the Steering Committee".


Eva Bermejo - mapa enfermedades raras EN

Eva Bermejo

Coordinator of the ECEMC (Spanish Collaborative Study of Congenital Malformations) and director of the Rare Diseases Research Institute (IIER)

Science Media Centre Spain

The team from the Institute for Rare Diseases Research (IIER) of the Carlos III Institute of Health has worked with the utmost rigour, in close collaboration with patients, within a project in which the Spanish Federation of Rare Diseases and the State Reference Centre for Rare Diseases (CREER) also participate. Furthermore, the work is aligned with the objectives of IRDiRC, the International Rare Diseases Research Consortium. To do so, they have taken as a basis the Rare Disease Patient Registry (RePER), a national registry that includes all rare diseases. The authors performed a multivariate analysis with logistic regression, and the work is unprecedented in Spain. This work has generated evidence on the basis of which it is possible to try to correct the identified determinants of diagnostic delay in rare diseases and, therefore, to contribute to shortening it, which is a very relevant implication for the real world of patients with these pathologies and their families.

"This is a study carried out by researchers on my team".

Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
  • Research article
  • Peer reviewed
  • Observational study
  • People
Orphanet Journal of Rare Diseases

Benito-Lozano, J., López-Villalba, B., Arias-Merino, G. et al.

Study types:
  • Research article
  • Peer reviewed
  • Observational study
  • People
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