Services for Patients with Rare Genetic Diseases in Germany

TL;DR

This paper discusses how Germany is improving care for rare disease patients through specialized centers called Rare Disease Centers.

Contribution

The paper provides an overview of the structure and function of Rare Disease Centers in Germany, using the Berlin Center as an example.

Findings

Rare Disease Centers in Germany coordinate patient care and connect with experts for rare diseases.

The Berlin Center for Rare Diseases exemplifies how these centers operate and collaborate with national and international networks.

Abstract

It is estimated that there are currently around 4 million people with a diagnosed rare disease living in Germany, 300 million people worldwide. Rare Disease Centers (RDCs) were founded in Germany as part of the National Action Plan for People with Rare Diseases to improve patient care. Currently, more than 30 RDCs exist. With a focus on coordinating patient pathways and guiding people with a definite or a suspected diagnosis of a rare disease, RDCs organize interdisciplinary case conferences and form networks with dedicated local, national, and international experts for specific rare diseases. This article expounds on the current status and the function of RDCs in Germany. The Berlin Center for Rare Diseases will be discussed as an example. In addition to a description of the center’s workflow, its relationship to other organizations such as European Reference Networks and Patient Organizations as well as its role within the National Strategy for Genomic Medicine will be explained.