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Verbesserung der Versorgung vonĀ­ Menschen mit seltenen Erkrankungen


TNAMSE as a blueprint for Genome Diagnostics in Germany

The national action plan for people with rare diseases was established with the aim to shorten the patient odyssey by implementing advanced genetic testing in the German Healthcare system (TNAMSE). Over a period of three years nine centers for rare diseases (ZSE) enrolled 1539 patients in TNAMSE and conducted exome analysis. A molecular diagnosis could be established in 461 cases. Disease-causing mutations could be found for 35% of patients with mental, behavioral and neurodevelopmental features, representing the disease group with the highest diagnostic yield. In total, we reported pathogenic mutations in 364 diagnostic grade genes (DDGs). For 79 of these DDGs, the phenotype association has been published in the recent five years. This increase in medical knowledge accounts for an improvement of the DQ by roughly 1% per year due to exome reanalysis. Likely pathogenic variants in an additional number 11 candidate genes could be identified in two ore more patients and are currently under functional evaluation. This underlines the power of a decentralized framework for variant analysis which enables queries for variants of unknown clinical significance (VUCS).


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