SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases Program.

The accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches. However, highly specialized clinicians operating within a historically-siloed healthcare system is antithetical to the multi-disciplinary, collaborative, and creative approach that facilitates the diagnosis of rare diseases. The Western Australian Undiagnosed Diseases Program (UDP-WA) successfully re-designed the work of the involved clinicians to facilitate teamworking across silos.

Diagnosing rare diseases: A sociotechnical approach to the design of complex work systems.

How do complex healthcare systems that are organised into distinct speciality areas achieve effective patient care transitions when patients present with a rare constellation of symptoms that affect multiple body systems? How do these patients challenge existing ways of organising tasks, clinical activities, and interdependent responsibilities? The current study applies a sociotechnical systems perspective to understand how these complex work design and care-related challenges were resolved by the Western Australian Undiagnosed Diseases Program. We conducted a two-year longitudinal, qualitative study of this program, conceived to improve the diagnosis and management of patients with rare, multi-system disorders by piloting a re-design of the local system of diagnostic work. Specifically, we (1) compared the configuration and effectiveness of the old system and the re-designed system; and (2) analysed the process of system re-design (i.