Patient journey mapping for orphan drug: identifying undiagnosed rare disease patients in fragmented diagnostic systems
Undiagnosed patients cannot be treated — but finding them requires understanding exactly where the system fails
For a rare condition with an available orphan treatment, the primary barrier to market impact was not prescriber awareness or reimbursement access — it was undiagnosed patients. Epidemiological models suggested that the diagnosed population represented only 30–40% of the total disease burden. The majority were sitting in general practices, community neurology clinics, and district hospitals without a diagnosis.
The standard approach to this problem — raising specialist awareness — was insufficient because specialists were not seeing the undiagnosed patients. Those patients were being managed by non-specialists who did not recognise the condition, or were not even reaching the healthcare system due to the non-specific nature of early symptoms.
To find undiagnosed patients systematically, the brand needed to understand exactly where on the diagnostic pathway patients were dropping out — and design targeted interventions at those specific points.
In rare disease, undiagnosed patients are invisible to both the healthcare system and the brand. Making them visible requires understanding the journey they are supposed to take — and documenting every point where it breaks down.
What we did
Measurable impact
The patient-finding algorithm identified previously undiagnosed patients in all 3 pilot regions within 6 months of deployment. In one market, the pilot region showed a 45% increase in specialist referrals for suspected rare disease patients over the 6-month period. The algorithm was adopted by the affiliate Medical Affairs teams as a structured component of their medical education programme for primary care physicians. The patient journey map was also used as supporting evidence in two HTA submissions demonstrating unmet need.
qualitative research
bottlenecks mapped
increased
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From the field:
evidence & practice
AI-powered.
Expert-validated.
We built AI workflows into our daily practice — not as a marketing claim, but as the infrastructure that lets our medical experts deliver faster without cutting corners.