Scoping study published on the current state of European Reference Networks and future implications
There is an ongoing effort on part of the European Commission (EC) to promote quality health care for the citizens of the European Union. However, this can be especially challenging in specialised and complex areas such as rare disease. Establishing reference networks are essential for sharing knowledge as well as facilitating the mobility for expertise. It also helps Member States to provide highly specialised services for patients (especially in rare diseases). However, establishing networks can be complicated, requiring the use of agreed-upon terminologies and maintenance of common standards. In fact, The Directive on patients’ rights in cross-border healthcare (2011/24/EU) Article 12 foresees a common set of criteria that the networks should follow.
To analyse the current situation of reference networks and highly specialised centres in the different European Union countries and to possibly establish a logical, feasible and robust model, a scoping study was performed. The EC and The European Observatory on Health Systems and Policies (World health Organisation) have provided the details of this study in a document entitled Building European Reference Networks in Health Care: Exploring concepts and national practices in the European Union. Although this study was performed within a short time and only provides a rough estimation of the existing networks in Member States, it is still a valuable analysis and provides ample help for building future models of European Reference Networks.
This study assesses the historical context of how certain reference networks have been established in the European Member States. The document provides an examination of the medical conditions or interventions for which reference networks have been developed and the driving force for their establishment. The study also discusses the regulatory processes and the financial implications of establishing these networks. From the analysis, the study also proposes a roadmap for developing and synthesising reference networks in Europe, keeping in mind the heterogeneity and the needs of the Member States. Additionally, the European Committee of Experts for Rare Diseases (EUCERD) has provided, in January 2013, a set of recommendations for setting up reference networks
Read the EUCERD Recommendations on European Reference Networks for Rare Diseases
Read the Cross-Border Directive
Microarray methodologies provide genomic data which are correlated with in situ hybridization data to doubly verify genomic aberrations of neoplastic disorders. To aid the laboratories in the consistent and methodical use of these technicyes in diagnostics, the American College of Medical Genetics and Genomics has developed professional standard and guidelines. An article published in the European Journal of Human Genetics, describe these. The authors first describe the advantages and disadvantages of DNA microarrays and then detail provide guidelines and recommendations for “Verification and validation of hardware, software, reagents and processes, means of collecting reference DNA, Quality control and assurance, analysis of data including analytical software” and finally on evaluating and interpreting results. The authors stress that “medical laboratory professionals must be prepared to identify, interpret, and report results with clinical relevance while being mindful of the social, ethical, and legal responsibilities of reporting genetic information”. 
In an open letter published in Journal of the American College of Cardiology, Pierre Garçonnat and Blandine Subra- Executive Vice President and President of the Association of Brugada syndrome France respectively- have expressed concern over the fact that Quinidine may soon be impossible to obtain in France. Quinidine is an important drug to stabilise arrhythmic storms in patients with Brugada syndrome. According to the authors, even Sanofi, manufacturer of the anti-arrhythmic drug: sérécor (active ingredient: hydroquinidine), admit to the direness of the situation. This lack of quinidine has been a matter of international disquiet as multiple articles have been published since 2007 involving this topic (
