RARE Daily

European Study Identifies Sources of Delayed Diagnosis

May 15, 2024

Rare Daily Staff

People with a rare disease in Europe saw an average of eight physicians and 4.7 years to get a diagnosis, according to a new study.

A preprint of the study, led by the rare disease patient organization Eurodis-Rare Diseases Europe, is expected to be published in the European Journal of Human Genetics. The study used Eurodis’ Rare Barometer survey for the study.

The study is based on the responses from 6,507 people living with 1,684 rare diseases in 41 countries. It found that a little more than half of those surveyed (56 percent) received a diagnosis within six months.

The study identified a variety of factors associated with diagnostic delays. This included symptom onset in childhood or adolescence and whether a patient was a woman. People in Western and Northern Europe faced greater delays than patients in Eastern, Central, and Southern Europe. Being referred to a center of expertise limited the risk of a diagnostic delay.

The study found a positive association between having a genetic test or a genetic disorder and experiencing diagnostic delays, but the authors said that reflects the difficulties in accessing genetic tests and the long lag time before obtaining results.

Like other studies, our survey confirms the difficulties associated with the diagnosis search of [people living with rare a disease] including visiting multiple healthcare professionals or experiencing numerous misdiagnoses, which ultimately lead to inappropriate care, treatments or surgeries, or to lack of specialized care,” the authors write. “It also shows that diagnosis often improved access to care, treatment or surgery for [people living with rare a disease].”

Among the recommendations for reducing delays is improving awareness of all rare diseases among primary care professionals, improving referral to Centers of Expertise, and reducing gender disparities in primary care and specialized care.

The authors also said improved public awareness of rare diseases could contribute to lowering the risks of delays encountered by children and adolescents in getting a diagnosis.

Finally, they said improving access to new diagnostic technologies using the most recent advances in genetics and omics for people living with a genetic rare disease including as part of newborn screening programs, could improve the time it takes to diagnose rare diseases.

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