The work has verified that more than half of patients experienced a delay in diagnosis -more than a year of waiting-, that the average of this delay exceeds 6 years in the study period, and that both the percentage of patients affected by the delay, as well as the average time of this delay, have decreased significantly with the Over the years.
Despite the fact that the International Research Consortium for Rare Diseases (IRDiRC) indicates that by the year 2027 a known rare disease should be able to be diagnosed within a year, the waiting time is usually longer. In other words, the study concludes, despite the reduction achieved since the 1960s (the percentage of patients who waited more than 1 year for diagnosis was around 60-80% in the last century, a figure that dropped by around 40-60% in the first decade of this century, and which has decreased significantly in recent years), Spain is far from reaching the IRDiRC goal of obtaining a diagnosis in less than a year.
Therefore, the authors of the report add, it is essential to continue monitoring the time to diagnosis, at the same time as the in-depth studies to find out the factors associated with the delay and the implications that all this has in all areas of the lives of patients and their familiesfacing the social and health problems involved.
In Spain it is estimated that there are around 3 million people affected by a disease considered rare, that is, one that affects less than 1 in 2,000 people. In our country there are 296 Reference Centers, Services and Units in the National Health System distributed in 52 centers, including 70 pathologies and many of them are part of the European Reference Networks. However, these centers do not cover all RDs, as denounced by many patient organizations.
In Spain there are 296 Reference Centers, Services and Units, including 70 pathologies
As shown by the work published in the “International Journal of Environmental Research and Public Health”, 56.4% of people had experienced a delay in the diagnosis of the disease, and that the average time elapsed since the start of symptoms until diagnosis had been 6.18 years. Specifically, 19% of patients had to wait between 1 and 3 years for diagnosis; 16.7%, between 4 and 9 years, and 20.9%, more than 10 years.
Regarding the mean waiting time between symptoms and diagnosis, the improvements have also been progressive and very significant as the years have progressed: if 60-80 years ago patients waited an average of 15-25 years to have a diagnosis for their disease, the percentage fell to an average of 5-10 years in the final years of the last century, to continue declining in the first and second decades of this century, although the average delay still exceeds the year that the IRDiRC has set as goal not to exceed by 2027.
In addition, a higher percentage of diagnostic delays was observed in women compared to men; in people who first showed symptoms between the ages of 30 and 44 compared to other age groups, and in cases of rare disease associated with mental, behavioral, and nervous system disorders. In fact, there are differences depending on the decade of onset of symptoms: people who started symptoms before 1979 had up to five times the risk of delayed diagnosis than those who started the disease in the last decade.
Currently around 7,000 rare diseases are known, an estimated figure that varies because new pathologies continue to be discovered
Regarding the situation by CCAA, the report has not seen significant differences by area of residence of the patients or by Autonomous Community. The data confirmed that the more recent the date of onset of symptoms, the lower the percentage of patients affected by diagnostic delay.
With this information, in addition to defining the time it takes to obtain a diagnosis, it is expected to be able to address what this delay depends on based on the characteristics of each rare disease and the people who suffer from them.
Currently around 7,000 rare diseases are known in the world, an estimated figure that varies because new very rare pathologies continue to be discovered, and because those already known are sometimes grouped or broken down into different ones as biomedical knowledge advances.
The study, which analyzed detailed information on 3,304 people affected by a rare disease in Spain between 1960 and 2021, is part of a research project funded by the Ministry of Science and Innovation, in which the IIER-ISCIII, the Center for State Reference of Care for People with Rare Diseases and their Families (BELIEVE) of the IMSERSO and the Spanish Federation of Rare Diseases (FEDER).
Researchers are currently analyzing the impact of diagnostic delay on the lives of these people and their families at a social, psychological, educational or occupational level.