Medical Informatics in Rare Disease – the bridge between two worlds

Rare diseases bring with them a multitude of challenges for those affected, their relatives and care providers. Modern technical solutions, based among other things on methods of medical informatics, offer great opportunities here.

Typically, the first major burden for those affected is getting the correct diagnosis. Unfortunately, this is often a lengthy and complex process accompanied by a range of corresponding challenges.

For example, in a survey conducted by EURORDIS of 12,000 patients with rare disease, over 40% of patients are initially misdiagnosed (fig 1). Moreover, results from the survey show that patients visit an average of 7.3 physicians before an accurate diagnosis is given, with an average time to diagnosis between 7.6 to 5.6 years in the US and UK, respectively.

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