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Solving Undiagnosed Diseases with De-Centrealised Knowledge Sharing

Updated: Dec 14, 2023

Solving the Unsolvable: How De-Centralized Knowledge Sharing Helps Diagnose Children With Rare Diseases

by Georgia Hay and Florian Klonek

Despite scholars and practitioners alike praising the positive outcomes of interdisciplinary collaboration, especially in complex professional work, work design in healthcare has often remained siloed, rendering interdisciplinary collaboration difficult.

But in a deliberate attempt to remove silos, Gareth from Genetics Services of Western Australia and the WA Department of Health Office of Population Health Genomics (OPHG), introduced the Undiagnosed Diseases Program in Western Australia (UDP-WA)[1]  to improve the diagnosis of rare diseases in children. UDP-WA has redesigned the work of clinicians, who now come together in a monthly meeting to creatively synthesize the patient information and brainstorm new (or previously abandoned) possible diagnoses and next-steps for the patient.

Two years into its implementation, the initiative has been very successful (the success rate of definitive diagnoses is 55 %).

So how does UDP-WA work? Or, in the words of one of the clinicians in the program, “Why is it that these children have seen so many other specialists, but only here do they receive a diagnosis?”. Key to the success of this work redesign has been the introduction of the “Expert Panel Meeting”. About once a month, specialists from a range of medical fields come together to address a specific case. Specialists include, for instance, clinicians from clinical genetics, neurology, imaging, endocrinology, gastroenterology, cardiology, haematology, ophthalmology, respiratory medicine, and metabolic medicine.

The panel reviews the existing medical history of the patient and makes recommendations for further clinical assessment. All panel members receive patient summaries and can comment on these. Irrespective of the clinical domains identified in each patient, the specialists are encouraged to put forward their own view. A diverse range of perspectives encourages broad and lateral thinking, and “ultimately fosters triangulation on diagnostic possibilities.” (p. 4)[2] 

From an academic perspective, the team design can be described as fostering the decentralization of knowledge. Before the implementation of the UDP, the work design of the clinicians that diagnosed patients with rare diseases was characterized by a centralized critical knowledge structure

Centralized knowledge structures tend to be associated with poorer team performance because the critical knowledge that will unlock the puzzle is only shared with a small number of people[3]. Unshared information that is key is not circulated sufficiently in the team of clinicians and therefore an optimal solution cannot be discovered. The same research shows that the effect of centralized knowledge structures on team performance is even worse when teams are diverse (i.e., members with different functional backgrounds) and when some team members contribute a high amount of exploratory knowledge. Both of these aspects apply when diagnosing rare diseases: many different specialties are involved (so the team is diverse) and diagnosis often involves knowing about new and unique technologies such as genome sequencing and facial analysis (so the knowledge is often exploratory).

But when the knowledge is decentralized (Team B in Figure 1), this means that clinicians have better means to work cooperatively and interdependently – they can access better unique (and unshared) patient-related information and perform better at their job. Gareth observes that “everything that breaks down those silos” is helping him to be most effective in his work. He can collect and harness different perspectives. Crucially, specialists in the expert panel meetings often discuss hunches or intuitions, which can spark solutions. As Gareth notes, “there are so many things that are not captured in notes”. When specialists come together face to face, they share this informal knowledge.

Exactly what goes on in a successful Expert Panel meeting, and what makes one meeting more effective than another, is currently unknown. We, at the Centre for Transformative Work Design, are engaging in a research project with Gareth and the OPHG to investigate in greater depth what processes and structures best facilitate knowledge sharing and the greatest number of “aha” moments. It is these moments that help clinicians, and health systems more broadly, provide care that is better tailored to patient need; in this case the need for a diagnosis.

We hope the outcomes of this research can be applied to other areas where interdisciplinary work is needed, in healthcare and beyond. Stay tuned for more findings!


[1] UDP-WA is part of the Undiagnosed Diseases Network International (UDNI). For more information, see Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., ... & Schofield, L. (2017). Initiating an undiagnosed diseases program in the Western Australian public health system. Orphanet Journal of Rare Diseases, 12(1), 83.

[2] Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., ... & Schofield, L. (2017). Initiating an undiagnosed diseases program in the Western Australian public health system. Orphanet journal of rare diseases, 12(1), 83. 

[3] Huang, S., & Cummings, J. N. (2011). When critical knowledge is most critical: Centralization in knowledge-intensive teams. Small Group Research, 42(6), 669-699.

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