Report on the public consultation on the implementation of European Reference Network
The development of the European Reference Networks and of the Centres of Excellence will greatly facilitate access to diagnosis and delivery of high-quality and cost-effective healthcare especially, but not entirely, for patients suffering from rare diseases. Article 12 of the Directive on the application of patients' rights in cross-border healthcare, requires the Commission to adopt a list of criteria that the networks must satisfy, and the conditions and criteria, which providers wishing to join networks must meet. In addition, they have to develop and publish criteria required to establish and appraise European Reference Networks. Furthermore, the Commission must also facilitate the exchange of information and expertise on these.
In order to accomplish the goals of Article 12, DG Health & Consumers initiated a public consultation targeted to stakeholders on the implementation of European Reference Networks (ERN) and in particular on the criteria to be considered accordingly. The objective of the public consultation was to consult stakeholders to receive input of interested parties as to how the criteria for the scope and for European Reference Networks and the healthcare providers wishing to join the network could be addressed and facilitated.
A summary and all contributions received from stakeholders regarding the above mentioned public consultation is now published in a report entitled “Public consultation on the implementation of European Reference Networks (ERN)”. This document summarises the contributions made by stakeholders on the elements to be addressed in the implementation of Article 12 of the Directive 2011/24/EU on European Reference Networks (ERN), and in particular on the criteria to be considered in the process of identification and designation of healthcare providers as Centres of Expertise.
Based on 138 respondents from stakeholders across Europe, the respondents mostly agreed on the majority of the criteria set out by the Commission. Additional opinions of the respondents on changes or addition of criteria is also available in the Annex section of the document.
Go to the DG SANCO website
Read the EUCERD recommendations on European Reference Networks
A study published in Neurobiology of Aging describes how Next-generation sequencing (NGS) was used to investigate nine rare Chinese pedigrees with rare autosomal recessive neurologic Mendelian disorders. In this article the authors have demonstrated the advantages of using next-generation sequencing to diagnose rare autosomal recessive neurologic Mendelian disorders characterized by genetic and phenotypic heterogeneity. The authors identified a list of known and novel candidate variants for each causative gene, they were “genetically verified by Sanger sequencing or quantitative polymerase chain reaction with the strategy of disease segregation in related pedigrees and healthy controls”. 
The 195th ENMC International Workshop on newborn screening (NBS) for Duchenne muscular dystrophy (DMD) was held in Naarden, The Netherlands, on 14–16th December 2012. A report detailing the proceeds of this meeting is published in Neuromuscular Disorders. The average global DMD incidence is now closer to 1:5000 but immediate pharmacological interventions do not currently exist for infants with DMD. The lack of available treatment is viewed by NBS programme regulators worldwide as a significant obstacle to add DMD to the national screening programmes. This report emphasises that any delay in the diagnostic process will have resulted in late genetic counselling and possibly the birth of a second DMD child. The report maintains that although the diagnosis of DMD is never welcome, hearing it sooner rather than later allows for the appropriate planning of the needed financial, reproductive and social support. 
Many countries that belong to the Organisation for Economic Co-operation and Development (OECD) forum created or expanded cost sharing programs to reduce the demand for health care services between 2000 and 2010. In an article published in Health Policy, the authors focus on changes in cost sharing in three divisions of the healthcare industry — pharmaceutical, outpatient and inpatient services — during this period. The authors obtained data on three different types of cost sharing: deductibles, co-insurance and co-payments and compared the measures taken to protect vulnerable groups in France, Germany, Japan, the UK, and the US. The authors believe that this article provides vital information where "countries can learn from the experiences of other countries while still maintaining their own unique healthcare systems". 
