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Diagnosis of “mystery” conditions improves with advanced US network approach

BMJ 2018; 363 doi: https://doi.org/10.1136/bmj.k4271 (Published 10 October 2018) Cite this as: BMJ 2018;363:k4271
  1. Susan Mayor
  1. London

Just over one in three patients with undiagnosed conditions despite thorough medical evaluation had a diagnosis identified when referred to a US network coordinating genetic testing with multidisciplinary specialist assessment, a study has found.1

The study, reported in the New England Journal of Medicine,1 showed that this approach established a diagnosis in 35% of nearly 400 patients who were fully evaluated.

Diagnosing patients’ conditions led to changes in treatment in 21% of the cases diagnosed, further diagnostic testing in 37%, and variant specific genetic counselling in 36%. A total of 31 new syndromes were identified.

The patients were all referred to the Undiagnosed Diseases Network, a …

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