Study reveals long diagnostic delays for rare diseases in Europe

A recent European-wide patient survey has uncovered significant delays in diagnosing rare diseases across Europe. 

The average diagnosis time in Europe for a rare disease is almost five years and most patients have to wait nine months for a diagnosis after getting in contact with their general practitioner.

These are the results of a European-wide patient survey study, conducted by EURORDIS, a non-governmental alliance of rare disease patient organisations, and due to be published in the European Journal of Human Genetics on Tuesday (14 May). The study will be discussed at a conference organised by EURORDIS in Brussels on 15-16 May.

Understanding rare diseases

Rare diseases, affecting fewer than five people in 10,000 in Europe, collectively impact 30 million Europeans. EURORDIS’ study uncovers the underlying causes and profound consequences of prolonged rare-disease diagnosis in Europe.

Delays primarily stem from systemic inefficiencies within the healthcare system rather than patient hesitation.

Patients report promptly seeking medical attention upon experiencing the first symptoms, but then encounter multiple misdiagnoses and specialist referrals before a diagnosis is confirmed.

Better access to specialised rare disease centres and national and European networks could significantly accelerate diagnosis and 24 European Research Networks (ERNs) were set up in 2017 to facilitate this.

Determinants of late diagnosis

Age is a main factor contributing to diagnostic delays. Although 70% of rare diseases start at childhood, symptoms often only manifest in adulthood. However, many young adults delay medical consultations, possibly from embarrassment and fear of not being taken seriously by medical staff.

The complexity of the medical diagnosis is another determinant: Patients often consult multiple healthcare professionals and three quarters are misdiagnosed at least once. Lack of expertise of healthcare professionals has previously been reported as a cause.

Lack of patients’ familiarity with the disease is another determinant, with 90% of patients having no known family history of the disease.

Three quarters of patients also report lacking financial and psychological support. Women, who comprise 70% of patients, are at a higher risk of health system delays, indicating the need for gender-targeted policies.

Lack of access to diagnostic tools is a known barrier to diagnosis. On the flip side, genetic testing is well favoured by healthcare professionals, and the majority of rare diseases – 70% of which are genetic – receive genetic testing.

Screening at birth

Another recent EURORDIS survey study underscores overwhelming support – 90% patients and family members – for universal newborn screening across all rare diseases.

Early detection through newborn screening facilitates timely intervention, which is particularly crucial given that 70% of rare diseases are genetic and onset during childhood. However, disparities remain in the use of newborn screening programmes among European countries.

Consequences of delayed diagnosis

More than half of patients report symptom deterioration due to late diagnosis, highlighting the importance of early detection for accessing adapted care and enabling informed reproductive choices.

Contrary to expectations, many patients report that a formal diagnosis fails to enhance – or even hinders – financial support in the form of social security benefits, loans and insurance. Moreover, social and work integration can deteriorate post-diagnosis.

Policy options

EURORDIS recommendations for faster diagnosis include better referral to centres of expertise and European Reference Networks, awareness campaigns to shorten patient delays for children and adolescents and wider access to newborn screening.

Investment in earlier and faster diagnosis is one of eight key recommendations put forward by EURORDIS’ 2021 foresight study to improve the lives of people living with rare diseases in Europe.

Survey methodology

The Rare Barometer survey, a EURORDIS global survey initiative, gathered responses from 6,507 individuals across 41 European countries, representing 1,684 rare diseases.

The analysis focused on three key time points: patient delay, health system delay, and overall diagnosis delay, collectively defining the prolonged journey from symptom onset to confirmed diagnosis.

[Edited by Zoran Radosavljevic/]

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