Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der Pädiatrie – Ergebnisse aus dem Projekt TRANSLATE-NAMSE

Translated title of the contribution: The clinical pathway for multidisciplinary treatment of rare diseases in pediatrics—Results from the TRANSLATE-NAMSE project

Daniela Choukair*, Min Ae Lee-Kirsch, Reinhard Berner, Corinna Grasemann, Olaf Hiort, Fabian Hauck, Christoph Klein, Diana Druschke, Georg F. Hoffmann, Peter Burgard

*Corresponding author for this work

Abstract

Background: Rare diseases (RD) often manifest with heterogeneous, multisystemic phenotypes in childhood and evolve as chronic conditions. The RD pose a challenge for all affected and involved people. Funded by the German Federal Joint Committee (G-BA) the Innovation Fund project TRANSLATE-NAMSE had the goal to develop and test patient pathways to improve care for people with RD. Objective: To develop a generic clinical pathway for patients with a presumptive diagnosis of one of five groups of RD that coordinates interdisciplinary care workflows from confirmatory diagnostics to long-term care of these patients. Methods: The clinical pathway was designed as a general flowchart and process steps were transferred into an itemized checklist. The pathway was field-tested in 587 cases with a presumptive diagnosis of defined rare diseases in six university medical centers. Results: A diagnosis was made in 369 (62,9%) cases with defined presumptive diagnoses and of those in 25,2% by innovative genetic testing. In 104 (17.7%) cases the presumptive diagnosis was discarded as false positive and 114 (19,4%) cases remaining unsolved. The median number of specialists attending case conferences was four. The median time between diagnosis and start of care (diagnosis, training, counselling, and information) was 0 days. Satisfaction of caregivers with the clinical pathway was high as shown by external evaluation. Conclusion: In the German TRANSLATE-NAMSE project a clinical pathway for children with a suspected rare disease was successfully developed and tested. Implementation of this pathway into standard care requires adequate financing.

Translated title of the contributionThe clinical pathway for multidisciplinary treatment of rare diseases in pediatrics—Results from the TRANSLATE-NAMSE project
Original languageGerman
JournalMonatsschrift fur Kinderheilkunde
Volume170
Issue number1
Pages (from-to)52-60
Number of pages9
ISSN0026-9298
DOIs
Publication statusPublished - 01.2022

DFG Research Classification Scheme

  • 205-02 Public Health, Health Services Research and Social Medicine
  • 205-20 Pediatric and Adolescent Medicine
  • 205-17 Endocrinology, Diabetology, Metabolism

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