Living with a rare disease (RD) often involves navigating a complex and lengthy healthcare process, especially when it comes to receiving a proper diagnosis. For many people, the road to identifying their condition feels like an odyssey—filled with misdiagnoses, numerous healthcare visits, and the frustration of waiting for answers. A recent study, "Time to Diagnosis and Determinants of Diagnostic Delays of People Living with a Rare Disease," by Faye et al., sheds light on this journey, focusing on the time taken to diagnose rare diseases in Europe and the factors contributing to these delays.
Rare Diseases and the Diagnostic Challenge
Rare diseases, by definition, affect fewer than five people per 10,000 individuals in a population. Although individually rare, collectively these diseases affect around 30 million people in Europe alone, and 300 million globally. Approximately 72% of rare diseases have a genetic origin, and 70% begin in childhood. Early diagnosis is crucial to providing timely care, managing symptoms, and preventing complications. However, diagnosing these diseases often takes years.
In this study, researchers aimed to determine the average time to diagnosis (TDT) for people living with a rare disease (PLWRD) in Europe and to explore the factors contributing to delays in this process. They surveyed 6,507 people from 41 European countries, representing over 1,600 rare diseases.
Key Findings: The Time to Diagnosis
The study revealed that the average time to diagnosis (TDT) for people with rare diseases in Europe is around 4.7 years, with 56% of patients receiving a diagnosis more than six months after their first medical contact. Shockingly, 25% of patients waited more than five years for a confirmed diagnosis.
The delay in diagnosis is divided into two key phases:
Patient Delay (PD): The time between the onset of symptoms and the first medical consultation.
Healthcare System Delay (HSD): The time from the first medical consultation to a confirmed diagnosis.
Of these two phases, HSD contributed to the majority of the delay. The average time from symptom onset to the first medical contact was around five months, while the time from the first medical contact to diagnosis stretched to an average of 4.3 years.
Determinants of Diagnostic Delays
Several factors were found to influence the length of diagnostic delays:
Age of Symptom Onset: The study found that the age at which symptoms first appeared was one of the strongest predictors of diagnostic delays. Children and adolescents were more likely to face longer diagnostic delays compared to adults. Adolescents had the longest average delay, with an odds ratio (OR) of 4.74, followed by children with an OR of 3.10. This suggests that younger patients are more prone to experiencing a diagnostic odyssey.
Number of Healthcare Professionals Consulted: Patients who saw more than eight healthcare professionals as part of their diagnostic journey were five times more likely to experience longer delays compared to those who consulted fewer doctors.
Misdiagnosis: A striking 73% of respondents reported being misdiagnosed at least once during their diagnostic journey. Misdiagnosis not only delayed the right treatment but also led to inappropriate care, surgeries, or the worsening of symptoms. Patients who were misdiagnosed had a 2.42 times higher likelihood of experiencing diagnostic delays.
Geographical Region: Living in Western or Northern Europe was associated with longer diagnostic delays compared to Eastern, Central, and Southern Europe. This finding contradicts the assumption that wealthier healthcare systems with more resources would lead to faster diagnoses. Patients in Western Europe had an OR of 1.95 for delays, while those in Northern Europe had an OR of 2.11.
Gender: Women were more likely than men to experience delays, particularly after their first contact with the healthcare system. Women had an OR of 1.22 for diagnostic delays, highlighting the potential for gender disparities in healthcare for rare diseases.
Genetic Testing: While genetic tests are essential for diagnosing many rare diseases, the study found that access to these tests remains inconsistent. Patients who eventually underwent genetic tests were more likely to experience diagnostic delays, possibly due to the time taken to obtain the tests and results.
The Diagnostic Odyssey and Its Consequences
For patients, the journey to diagnosis is often emotionally and physically exhausting. Many respondents shared that the process of being misdiagnosed or not taken seriously by healthcare professionals had profound effects on their well-being and access to appropriate care. The study highlighted several consequences of these delays, including:
Inappropriate Treatment: Patients received the wrong care, surgeries, or treatments, which sometimes worsened their condition. In fact, 44% of patients who were misdiagnosed reported that their symptoms worsened as a result.
Psychosocial Impact: More than half of the respondents said their social lives worsened after receiving their diagnosis. This may be due to the long periods spent navigating healthcare systems, which impacted daily life and mental health.
Financial Strain: Despite receiving a diagnosis, many patients reported no improvement in their access to financial or social support. Around 50% of respondents said their access to financial support and products remained unchanged post-diagnosis, showing a gap in the broader support system for people with rare diseases.
Improving the Diagnosis of Rare Diseases
The study’s findings suggest that the path to diagnosing rare diseases needs significant improvement. Here are some proposed solutions based on the study’s results:
Raising Awareness Among Healthcare Professionals: One of the most significant barriers to faster diagnosis is the lack of awareness among healthcare professionals about rare diseases. Increasing education on rare diseases during medical training and providing continuous professional development in this area could help reduce diagnostic delays.
Better Access to Genetic Testing: Although advances in next-generation sequencing are helping to identify genetic diseases, there is still inconsistency in access to these tests. The study emphasizes the need for policies to improve the availability and affordability of genetic testing for rare disease patients. Faster and more widespread use of genetic testing could shorten diagnostic times and prevent misdiagnoses.
Referral to Specialized Centers: Referring patients to Centres of Expertise, which specialize in rare diseases, was associated with shorter diagnostic delays. However, many patients are not referred to these centers promptly. Strengthening the referral system and ensuring that healthcare professionals are aware of these centers could help improve diagnosis rates.
Addressing Gender Disparities: The study’s finding that women face longer diagnostic delays than men calls for a closer look at gender disparities in healthcare. Improving adherence to clinical guidelines and providing gender-sensitive care are crucial steps to closing this gap.
Providing Holistic Support: Receiving a diagnosis is just one step in the journey for patients with rare diseases. There needs to be better integration of social, psychological, and financial support for these patients and their families. Holistic care models that consider the broader impacts of living with a rare disease should be prioritized.
References:
Faye, F., Crocione, C., Anido de Peña, R. et al. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. Eur J Hum Genet 32, 1116–1126 (2024). https://doi.org/10.1038/s41431-024-01604-z
-Written by Sohni Tagore
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