Why our work matters
Diagnostic delay is a measurable economic loss, not only a human one
The case for working on rare disease diagnosis is usually made in human terms, and it should be. But it is also one of the few places in healthcare where reducing suffering and reducing cost point in the same direction, because almost everything spent during a diagnostic odyssey is spent looking for the answer rather than treating the condition.
References:
Nguengang Wakap S. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journal of Human Genetics, 2020.
Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: Rare Barometer retrospective patient survey. European Journal of Human Genetics, 2024.
The cost of the diagnostic odyssey of patients with suspected rare diseases. Orphanet Journal of Rare Diseases, 2025.
The economic burden of diagnostic uncertainty on rare disease patients. BMC Health Services Research, 2024.
EURORDIS, Putting rare diseases at the heart of the EU Life Sciences Strategy; European Parliament briefing on the EU rare disease action plan.
What the evidence shows
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Patients wait an average of 4.7 years from first symptom to confirmed diagnosis, and more than five years in the slowest quarter of cases. (EURORDIS Rare Barometer, EJHG 2024, n=6,507 across 41 countries)
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Around 90% of that time falls after the first medical contact. The delay is in the diagnostic process, not in patients presenting late. (Same study)
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73% of patients receive at least one misdiagnosis — symptoms attributed to another condition, dismissed, or treated as psychological. (Same study)
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In German claims data, patients on a diagnostic odyssey incurred 7.6× the direct healthcare costs of matched controls — €26,999 against €3,561 — with 3.1 hospital admissions against 0.5, 14.7 genetic test billing codes against 0.3, and 7.3 specialists consulted against 4.3. (Orphanet Journal of Rare Diseases 2025, n=1,243)
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Costs continue after diagnosis in the form of lost economic participation. Studies of rare disease cohorts report substantial rates of reduced working capacity and early retirement, at ages well below the statutory threshold.
What a shorter odyssey would be worth
We have modelled what a systematic reduction in time-to-diagnosis would mean for a single national health system. Taking Germany as the case, and combining published prevalence estimates with the cost and healthcare-utilisation figures above, a reduction of one to two years in average time-to-diagnosis across the rare disease population corresponds to an annual economic and fiscal effect in the order of billions of euros — through avoided diagnostic healthcare utilisation, retained workforce participation, and reduced pressure on disability systems.
The assumptions behind that figure
We state these because a number of this size is only useful if it can be checked. The estimate rests on published prevalence and cost-per-patient data applied across the national rare disease population; it assumes benefits accrue proportionally to time saved; and the workforce-participation component is extrapolated from cohort studies of limited size. It is a scenario for the scale of the opportunity, not a forecast, and not a projection of any particular company's results.
The narrower and more defensible claim is the one we would rather be held to: the delay is concentrated in the health system, after patients have already presented, and it is expensive. That is a solvable problem, and it is where we work.
Vivarus Diagnostics is in development. It is not CE-marked, is not currently a medical device, and is not available for clinical use. Nothing on this site is a claim of diagnostic performance.