Rare diseases are notoriously difficult to diagnose. According to the FDA, one-third of people with a rare disease will wait one to five years before receiving a correct diagnosis. A new search engine created by researchers at the Technical University of Denmark, FindZebra, is aiming to change that.
"Zebra" is a medical slang term for a surprising diagnosis. The term derives from the aphorism "When you hear hoofbeats behind you, don't expect to see a zebra", which was coined by a professor at the University of Maryland School of Medicine to describe unexpected diagnoses. This term is widely used in medical communities, and refers to diseases occurring in less than 1 in 2000 of the population.
The FindZebra website states that it aims to "[address] the task of searching for relevant rare diseases given a query of patient data. The patient data is given as free text, which means that the queries do not have to use a controlled vocabulary or specific query language restrictions as in conventional diagnostic assistance systems. The patient data submitted as a query to the information retrieval (IR) system could consist of patient age, gender, demographic information, symptoms, evidence of diseases, test results, previous diagnoses, and other information that a clinician might find relevant in the differential diagnosis."
FindZebra has indexed approximately 30,000 medical articles (which are freely available on the internet) focused on rare and genetic diseases. Those working on the project have examined the search results on FindZebra as well as those on Google. Comparisons show that results attained on Google, using the same variables, are significantly less relevant than those found with FindZebra.
Although this project is still under development, the researchers have made their rare disease search engine publicly available. They have advised that the search engine only be used by medical professionals. Although the articles indexed by the system have been written by medical professionals, or reviewed by medical associations, patients should always consult with their health care providers.
For more information, please visit www.findzebra.com.