Abstract
BackgroundRare disease diagnosis is often delayed by years. A primary factor for this delay is a lack of knowledge and awareness regarding rare diseases. Probabilistic diagnostic decision support systems (DDSSs) have the potential to accelerate rare disease diagnosis by suggesting differential diagnoses for physicians based on case input and incorporated medical knowledge. We examine the DDSS prototype Ada DX and assess its potential to provide accurate rare disease suggestions early in the course of rare disease cases.ResultsAda DX suggested the correct disease earlier than the time of clinical diagnosis among the top five fit disease suggestions in 53.8% of cases (50 of 93), and as the top fit disease suggestion in 37.6% of cases (35 of 93). The median advantage of correct disease suggestions compared to the time of clinical diagnosis was 3 months or 50% for top five fit and 1 month or 21% for top fit. The correct diagnosis was suggested at the first documented patient visit in 33.3% (top 5 fit), and 16.1% of cases (top fit), respectively. Wilcoxon signed-rank test shows a significant difference between the time to clinical diagnosis and the time to correct disease suggestion for both top five fit and top fit (z-score -6.68, respective -5.71, α=0.05, p-value <0.001).ConclusionAda DX provided accurate rare disease suggestions in most rare disease cases. In many cases, Ada DX provided correct rare disease suggestions early in the course of the disease, sometimes at the very beginning of a patient journey. The interpretation of these results indicates that Ada DX has the potential to suggest rare diseases to physicians early in the course of a case. Limitations of this study derive from its retrospective and unblinded design, data input by a single user, and the optimization of the knowledge base during the course of the study. Results pertaining to the system’s accuracy should be interpreted cautiously. Whether the use of Ada DX reduces the time to diagnosis in rare diseases in a clinical setting should be validated in prospective studies.
Highlights
Rare disease diagnosis is often delayed by years
Rare disease diagnosis remains a challenge for patients, doctors, and healthcare systems
This study aims to evaluate the potential accuracy of Ada DX as a diagnostic decision support systems (DDSSs) in rare disease cases and its potential impact on to diagnosis (TD)
Summary
Rare disease diagnosis is often delayed by years. Probabilistic diagnostic decision support systems (DDSSs) have the potential to accelerate rare disease diagnosis by suggesting differential diagnoses for physicians based on case input and incorporated medical knowledge. One in 17 people will be affected by a rare disease in their lifetime [2]. Rare disease diagnosis remains a challenge for patients, doctors, and healthcare systems. Rare disease patients often have diagnostic odysseys, waiting an average of 6 years from onset of symptoms for an accurate diagnosis [3]. During the diagnostic odyssey patients suffer from loss of quality of life, disease progression, incorrect treatment and complications that are sometimes irreversible [5]. There is an urgent need to improve rare disease diagnosis [3]
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