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<p>With around 7% of the population affected, rare diseases (RD) altogether represent a&#xa0;relevant group of conditions in Europe. One of the central problems of RD care is delayed diagnosis (on average 6–8&#xa0;years), which has serious implications for the prognosis, treatment and quality of life of those affected. Primary caretakers play a&#xa0;crucial role in attempts to improve this situation, since they are the ones who identify suspected cases and take charge of their coordination. The implementation of a&#xa0;structured diagnostic pathway could considerably reduce the burden on primary caretakers, effectively shorten the time to diagnosis and lower costs for the healthcare system. Therefore, the following article maps out a&#xa0;concrete strategy. It contributes to strengthening primary caretakers in their role as central coordinators, as well as to improving cooperation between primary caretakers, patients affected by RD, specialists and centres for RD.</p>

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Seltene Erkrankungen – Konzept eines strukturierten Diagnosepfads

  • 期刊论文

  • 发表日期：

    2026年6月15日

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  • Laura Schmidt-Pennington

摘要

With around 7% of the population affected, rare diseases (RD) altogether represent a relevant group of conditions in Europe. One of the central problems of RD care is delayed diagnosis (on average 6–8 years), which has serious implications for the prognosis, treatment and quality of life of those affected. Primary caretakers play a crucial role in attempts to improve this situation, since they are the ones who identify suspected cases and take charge of their coordination. The implementation of a structured diagnostic pathway could considerably reduce the burden on primary caretakers, effectively shorten the time to diagnosis and lower costs for the healthcare system. Therefore, the following article maps out a concrete strategy. It contributes to strengthening primary caretakers in their role as central coordinators, as well as to improving cooperation between primary caretakers, patients affected by RD, specialists and centres for RD.