[se-atlas.de-Medical care atlas for people with rare diseases]. / se-atlas.de ­ Versorgungsatlas für Menschen mit Seltenen Erkrankungen.

In the European Union a disease is classified as rare if it affects no more than 5 out of 10,000 people. Currently, there are more than 6000 rare diseases, consisting of a large and heterogeneous number of different diseases that are complex in their symptomatology, multidimensional and therefore difficult to classify in everyday medical practice. This complicates the diagnosis and treatment as well as finding a suitable contact person, as there are only a few experts for each individual rare disease. The medical care atlas for rare diseases www.se-atlas.de enables the search for care facilities and patient organizations for specific rare diseases by disease name and presents the search results geographically. It also provides an overview of all German centers for rare diseases, which are a contact point for patients with an unclear diagnosis. The se-atlas serves as a compass through the heterogeneous amount of information on care facilities for rare diseases and provides low-threshold information for a broad user group, from affected persons to members of the medical care team.

Visualization of Similar Patients in a Clinical Decision Support System for Rare Diseases - A Focus Group Study.

The diagnosis of patients with rare diseases is often delayed. A Clinical Decision Support System using similarity analysis of patient-based data may have the potential to support the diagnosis of patients with rare diseases. This qualitative study has the objective to investigate how the result of a patient similarity analysis should be presented to a physician to enable diagnosis support. We conducted a focus group with physicians practicing in rare diseases as well as medical informatics researchers. To prepare the focus group, a literature search was performed to check the current state of research regarding visualization of similar patients. We then created software-mockups for the presentation of these visualization methods for the discussion within the focus group. Two persons took independently field notes for data collection of the focus group. A questionnaire was distributed to the participants to rate the visualization methods. The results show that four visualization methods are promising for the visualization of similar patients: "Patient on demand table", "Criteria selection", "Time-Series chart" and "Patient timeline. "Patient on demand table" shows a direct comparison of patient characteristics, whereas "Criteria selection" allows the selection of different patient criteria to get deeper insights into the data. The "Time-Series chart" shows the time course of clinical parameters (e.g. blood pressure) whereas a "Patient timeline" indicates which time events exist for a patient (e.g. several symptoms on different dates). In the future, we will develop a software-prototype of the Clinical Decision Support System to include the visualization methods and evaluate the clinical usage.

Mapping of Health Care Providers for People with Rare Diseases - From Vision to Implementation.

se-atlas - the health service information platform for rare diseases - is part of the German National Action Plan for People with Rare Diseases. The website www.se-atlas.de provides an overview of health care providers and support groups focusing on rare diseases in Germany. Since the start of se-atlas in 2013, several strategies are being developed and evaluated. This paper gives an overview about the expectations and visions for se-atlas at the beginning of the project, the challenges and lessons learned within the project period and how se-atlas is implemented today.

Vision and challenges of a cartographic representation of expert medical centres for rare diseases.

In Germany, many highly specialized facilities for the diagnosis and treatment of rare diseases exist. However it is quite difficult for patients to find the required specialists because of the fact that information on the internet is scattered and of variable quality. The German Federal Ministry of Health initiated several activities to address this issue. This paper describes the project se-atlas which aims at presenting the medical care options for people with rare diseases on an interactive map and in a list format. Potential users of this resource will be patients and their relatives, doctors, non-medical personnel and the general public. Most information derived from the data sets is already listed in ORPHANET. The project's primary goals are to steadily increase the data set and to ensure its quality. This paper presents the goals and measures taken in this project. It gives an overview of the challenges implementing such a new service and the visions behind.