Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der Pädiatrie – Ergebnisse aus dem Projekt TRANSLATE-NAMSE
Research output: Contribution to journal › Research article › Contributed › peer-review
Contributors
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 contribution | The clinical pathway for multidisciplinary treatment of rare diseases in pediatrics—Results from the TRANSLATE-NAMSE project |
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Details
Original language | German |
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Pages (from-to) | 52-60 |
Number of pages | 9 |
Journal | Monatsschrift Kinderheilkunde |
Volume | 170 (2022) |
Issue number | 1 |
Publication status | Published - 3 Dec 2021 |
Peer-reviewed | Yes |
Keywords
ASJC Scopus subject areas
Keywords
- Confirmatory diagnostics, Five groups of defined rare diseases, Innovative genetic testing, Presumptive diagnoses