An article published in the Journal of Community Genetics analysed the current status of genetic services and research funding throughout Europe as 80 % of rare diseases have a genetic origin. In this article, the authors aimed to determine, across the EU countries, the staffing levels of clinical genetic laboratories of EU countries as well as their preparedness to be a European Reference Centre, success in obtaining rare disease research funding and contribution of researchers in conferences.

In 2011, the cross-border patients’ rights directive recommended the creation of European Research Networks (ERNs) to improve patient care throughout EU. The process of designating EU centres of expertise in rare diseases, which involves assessing the staffing of clinical genetic centres, is being implemented to allow centres to enter ERNs. According to the authors a wide disparity of staffing levels in clinical genetic services, rare disease research funding and communication of research work is observed across the EU countries that they analysed. The authors observed a need to ensure that the inequity gap that already exists does not widen with the development of ERNs.

More information: PubMed article, Orphanews