Abstract

BackgroundRare diseases are difficult to diagnose. Due to their rarity, heterogeneity, and variability, rare diseases often result not only in extensive diagnostic tests and imaging studies, but also in unnecessary repetitions of examinations, which places a greater overall burden on the healthcare system.Diagnostic decision support systems (DDSS) optimized by rare disease experts and used early by primary care physicians and specialists are able to significantly shorten diagnostic processes. The objective of this study was to evaluate reductions in diagnostic costs incurred in rare disease cases brought about by rapid referral to an expert and diagnostic decision support systems.MethodsRetrospectively, diagnostic costs from disease onset to diagnosis were analyzed in 78 patient cases from the outpatient clinic for rare inflammatory systemic diseases at Hannover Medical School. From the onset of the first symptoms, all diagnostic measures related to the disease were taken from the patient files and documented for each day.The basis for the health economic calculations was the Einheitlicher Bewertungsmaßstab (EBM) used in Germany for statutory health insurance, which assigns a fixed flat rate to the various medical services.For 76 cases we also calculated the cost savings that would have been achieved by the diagnosis support system Ada DX applied by an expert.ResultsThe expert was able to achieve significant savings for patients with long courses of disease. On average, the expert needed only 27 % of the total costs incurred in the individual treatment odysseys to make the correct diagnosis. The expert also needed significantly less time and avoided unnecessary examination repetitions.If a DDSS had been applied early in the 76 cases studied, only 51–68 % of the total costs would have incurred and the diagnosis would have been made earlier. Earlier diagnosis would have significantly reduced costs.ConclusionThe study showed that significant savings in the diagnostic process of rare diseases can be achieved through rapid referral to an expert and the use of DDSS. Faster diagnosis not only achieves savings, but also enables the right therapy and thus an increase in the quality of life for patients.

Highlights

  • In Europe diseases are considered rare when they affect fewer than 1 in 2.000 persons [1]

  • Complexity and the lacking knowledge about rare diseases it is very difficult for most physicians to quickly identify rare diseases [4]. 25 % of the patients with rare diseases wait between 5 and 30 years until they are diagnosed correctly [5]

  • Surveys conducted in the USA and Great Britain revealed that the average patient visits eight physicians, four outpatient departments and four specialists until the correct diagnosis is found while getting two to three false diagnoses on the way to it [6]

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Summary

Introduction

In Europe diseases are considered rare when they affect fewer than 1 in 2.000 persons [1]. It is estimated that 8.000 rare diseases are known worldwide today [3]. Because of their variability, complexity and the lacking knowledge about rare diseases it is very difficult for most physicians to quickly identify rare diseases [4]. 25 % of the patients with rare diseases wait between 5 and 30 years until they are diagnosed correctly [5]. Diagnostic decision support systems (DDSS) optimized by rare disease experts and used early by primary care physicians and specialists are able to significantly shorten diagnostic processes. The objective of this study was to evaluate reductions in diagnostic costs incurred in rare disease cases brought about by rapid referral to an expert and diagnostic decision support systems

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