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. 2025 Apr 5;184(5):281.
doi: 10.1007/s00431-025-06101-z.

Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions

D Gunes  1 , M Karaca  2 , A Durmus  2 , B Ak  2 , N Aktay Ayaz  3 , Z U Altınel  4 , A D Aslanger  5 , F Atalar  6 , M C Balci  2 , L Bilgin  7 , F Darendeliler  8 , D Demirkol  9 , O Durmaz  10 , A Gedikbasi  11 , E Inan Balci  8 , E Z Ince  7 , S G Karadag  3 , G Keskindemirci  12 , K Nisli  13 , M Ozcetin  14 , A Somer  15 , A Unuvar  16 , M Uysalol  17 , E Yildiz  18 , Z N Yuruk Yildirim  19 , M Demirkol  2 , G F Gokcay  2
Affiliations

Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions

D Gunes et al. Eur J Pediatr. .

Abstract

The diagnosis and treatment of rare diseases present significant global challenges. This study aimed to identify the difficulties faced by specialists in the diagnosis and management of rare diseases, as well as to gather their recommendations for potential solutions. An expert committee specializing in inborn metabolic disease and genetics developed a comprehensive survey, which was then distributed online to professionals working with rare diseases. A total of 21 specialists actively engaged in the management of rare diseases participated in the survey. All participants acknowledged the substanstial significant diagnostic challenges associated with rare diseases, with 86% indicating that these diagnostic challenges negatively affect their clinical practice. The primary obstacles encountered in the diagnosis and follow-up of rare diseases were low awareness, a lack of a multidisciplinary approach, insufficient numbers of specialists and inadequate infrastructure, limited newborn screening programs, challenges in accessing treatment, and insufficient psychosocial support. All participants emphasized the need for a multidisciplinary approach in the management of rare diseases. Proposed solutions included enhanced training for healthcare professionals, the establishment of multidisciplinary teams and diagnostic algorithms, the regular convening of councils and meetings, and the establishment of robust registries. While all participants rated their own clinical experience as proficient in diagnosing and treating rare diseases, the establishment of multidisciplinary teams was the most frequently suggested area for improvement.

Conclusion: Addressing the challenges in the diagnosis, treatment, and monitoring of rare diseases requires a multifaceted approach, including raising awareness, enhancing patient services, developing robust research and improving the infrastructure, establishing multidisciplinary care frameworks, and implementing preventive medicine and social policies.

What is known: • It is estimated that over 300 million people globally are living with one or more rare diseases. The process of diagnosis, treatment, and follow-up of rare diseases involves significant global challenges.

What is new: • In our study, the difficulties encountered by specialists in the diagnosis and treatment of rare diseases in Türkiye and solution suggestions are presented. This is the first study on this subject in Türkiye.

Keywords: Multidisciplinary approach; Rare diseases; Solution proposals; Specialist education; Türkiye.

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Conflict of interest statement

Declarations. Ethics approval: This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of Istanbul University Istanbul Faculty of Medicine (Ethics Committee number: 2024/1662). Informed consent: Informed consent was obtained from the participants in this study. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Prevalence rates of rare diseases encountered by participants in their clinical practice
Fig. 2
Fig. 2
Recommendations for a multidisciplinary approach to rare diseases
Fig. 3
Fig. 3
Challenges in diagnosing rare diseases in Türkiye
See this image and copyright information in PMC

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