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Article
The Team-Based Approach to Undiagnosed and Rare Diseases
Pediatr Clin North Am (2017)
  • Robert M Kliegman
  • Barbara E Ruggeri
  • Molly Marquardt Smith
Abstract
Patients with undiagnosed or rare diseases often remain without a diagnosis for many years. Many are misdiagnosed or treated symptomatically without having an identified underlying disease process. Health care providers in general practice and subspecialists are equipped to diagnose diseases commonly seen. Most practitioners are unlikely to be familiar with uncommon manifestations of a common disorder and have little or no experience with rare diseases. Multidisciplinary teams are effective in reviewing patients with undiagnosed and rare diseases and in developing a new diagnostic strategy for appropriate evaluation. A medical librarian and an access coordinating navigator are essential members of the team.
Keywords
  • Multidisciplinary,
  • Team approach,
  • Undiagnosed or rare diseases
Publication Date
February, 2017
DOI
10.1016/j.pcl.2016.08.003
Citation Information
Kliegman RM, Ruggeri BE, Smith MM. The Team-Based Approach to Undiagnosed and Rare Diseases. Pediatr Clin North Am. 2017;64(1):17-26. doi:10.1016/j.pcl.2016.08.003