Rare disease patient pathway mapping: country-specific diagnostic journey analysis to reduce time to diagnosis
Average diagnostic delay means different things in different countries
For a rare condition with an average reported diagnostic delay of 5.4 years, the published statistic was clear — but it concealed significant variation. In some markets, the delay happened primarily at the GP level: patients were presenting to primary care physicians multiple times over years without being referred to a specialist. In other markets, specialist referral happened relatively quickly but confirmatory testing was delayed by laboratory capacity constraints or lack of access to specialist diagnostic centres.
A brand entering a priority market for an orphan treatment needed to address diagnostic delay — both as a genuine medical objective and as part of the unmet need argument for HTA submissions. A one-size-fits-all intervention could not work without first understanding precisely where the diagnostic system was failing.
Country-specific patient pathway mapping was the necessary foundation — not just to understand the problem, but to design targeted interventions that could actually move the needle on time to diagnosis in each individual market.
Diagnostic delay in rare disease is a systemic failure — but the system fails at different points in different countries. You cannot fix a problem you have not precisely located.
What we did
Measurable impact
Country-specific bottleneck profiles were delivered, documenting distinct patterns of diagnostic delay. Primary bottlenecks identified included GP recognition failure, specialist-to-diagnostic-centre access, and laboratory testing capacity. The Medical Affairs team integrated the recommendations into their annual engagement strategy. The pathway analysis was incorporated as supporting evidence in HTA submissions and cited by a national guideline committee as informing a recommendation on specialist referral pathways.
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From the field:
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