The 2013 edition of the report on the State of the Art of Rare Disease Activities in Europe is now online, offering a wealth of information on EU and Member State initiatives
The annual report on the State of the Art of Rare Disease Activities in Europe is now available online. This extensive report, elaborated by the Scientific Secretariat of the European Union Committee of Experts on Rare Diseases (EUCERD) under the framework of the EJA (EUCERD Joint Action) and with the cooperation and input of all members of the EUCERD, provides a comprehensive overview of rare disease and orphan drug activities at both the European Union (EU) and Member State (MS) levels up to the end of 2012 - including the progress of EU Member States in meeting the Council Recommendation, notably in terms of developing a national plan/strategy for rare diseases.
The report is composed of six volumes, the first of which provides an overview of activities in the field in Europe and the last of which is made up of individual reports by country for easier dissemination of up-to-date information at national level concerning national activities For readers who have read previous years’ reports and are familiar with the activities in the field, a synthesis of all the activities taking place in 2012 is proposed in Part II, Key developments in the field of rare diseases in Europe in 2012.
Amongst the topics covered by the report at the MS and EU levels are : the development of centres of expertise; registries; genetic testing resources and activities; patient organisation activities; information resources; guidelines and recommendations; educational initiatives; research and funding mechanisms and participation in EU-level projects; rare disease conferences and events; orphan medicinal product incentives, availability, reimbursement and pricing policies; and specialised social services.
Each section of the report includes a bibliography of sources used, including a list of any European Commission documents referred to and a list of web addresses organised by country listing national sources of information on rare diseases and links to documents concerning national plans or strategies for rare diseases when appropriate. Many stakeholders at national level have contributed once again to the update of this valuable report : they are listed by country and with mention of the validating authority for each country.
All the volumes of the report, useful to stakeholders from all rare disease and orphan drug areas, are freely accessible via the EUCERD website.
In April 2013, two policy opinion papers on the regulation of genetic services in Germany have been issued. These documents were prepared by the German Ethics Council and the Genetic Diagnostics Commission (GEKO). The paper released by the German Ethics Council is a compilation of an Opinion on the future of genetic diagnosis, focussing on the enhancement of information dissemination and counselling. They also provided recommendations on prenatal genetic diagnosis, informed consent, quality of genetic tests and reimbursement mechanisms. Topics of current interest such as direct-to-consumer testing and future debates on genetics were also examined. The German Ethics Council recommends establishing an information platform for available genetic tests, advocating the use of EuroGentest Clinical Utility Gene Cards in conjunction with the Orphanet directories as a basis for this platform. 
A recent article in Health Policy describes the strategic plan on genomics and predictive medicine within the 2010–2012 National Prevention Plan by the Italian Ministry of Health. This plan is supported by the Italian Network for Public Health Genomics (GENISAP) and may lead to the “integration of public health genomics into health care in the country”. The 2010–2012 National Prevention Plan (NPP, published every 2 years) and the 2011–2013 Technical Document for the reduction of the burden of cancer diseases define the governmental plan for genomics based predictive medicine. The NPP, published collaboratively by Ministry of Health and Regions, has addressed the preventive actions within the public health system and implementation of the policy of public health genomics through dedicated projects in Italy. 
The U.K. government is moving toward permitting an in vitro fertilization procedure that would enable patients with mitochondrial diseases to avoid passing the condition onto their children. Mitochondrial mutations - passed from mother to child as they share mitochondrial DNA - can cause diseases which are debilitating often with no available treatment. The procedure in question involves transferring the nuclear DNA from the sperm and egg of the potential parents into a second egg, provided by a donor with healthy mitochondria, from which the nuclear DNA has been removed. Although controversial, this technique found ample support during public consultations. The technique is still under development and has not been tried in humans yet, but is considered to have enormous potential. The Department of Health announced that they will be drafting guidelines for fertility clinics to offer the procedure. The proposed guidelines are due to be released for public consultation later this year, and Parliament could vote on a final version next year. 
Epidermolysis bullosa (EB) is a group of inherited diseases in which the skin breaks and blisters following minor trauma and have been recently divided into 4 main groups: EB simplex (EBS),junctional EB, dystrophic EB (DEB), and Kindler syndrome. A study published in Actas Dermo-Sifiliográficas has determined the prevalence of DEB in Spain. The authors used data from population-based sources such as the dermatology departments of hospitals, diagnostic laboratories performing antigenic mapping and/or genetic testing, and the Spanish Association of Epidermolysis Bullosa Patients (DEBRA) to identify 152 DEB patients living in Spain. The report showed that the prevalence of DEB in Spain is 6.0 patients per million, a figure higher than previous estimates in many areas, but similar to those found in other southern Europe countries. The report also showed that many more problems associated with the DEB patients where “77% of the patients were not being followed up in specialized centers of reference; 65% had not had a genetic diagnosis, and 76% were not members of DEBRA”.
The Europlan conference in Bucharest, Romania on 24-25 May 2013 was held to facilitate an open dialogue between all stakeholders (patients, professionals, authorities, politicians, industry, media). This event was organised by ANBRaRo under the patronage of the Ministry of Health. The conference rendered support from the Ministry of Health of Romania, who are motivated to carry forth the National Plan for Rare Diseases in the near future. In addition, to updating the national plan for Romania, the conference also discussed establishing relevant procedures for assessing the Centers of Expertise as well as finalising the procedure for appointing the National Committee for Rare Diseases & working groups. The process of reimbursement of orphan drugs in Romania was also analysed and alternative strategies to facilitate access to orphan medication were examined. A push towards rare disease research and the identification of possible sources of funding were considered. In conclusion, the outlook for adoption of the long-awaited National Plan for Rare Diseases in Romania looks promising. 
The most convenient and widely employed method for surveillance of rare diseases is by utilising patient registries, which may be a limiting source at times. An innovative method of surveillance identified by the authors of an article published in Genetics in Medicine, was of studying employer-sponsored insurance in U.S. The authors searched the health insurance database for patients with characteristics for hereditary hemorrhagic telangiectasia (HHT, 
A National Newborn Screening Programme (NNSP) for congenital hypothyroidism assessment was finally performed in Turkey. Retrospective study based on the data from NNSP has been published in the Journal of Clinical Research in Pediatric Endocrinology
An interesting social question is presented in an article published in Social Science and Medicine where the views of Norwegian doctors on prioritisation of treatment for rare disease patients were compared to the general population. By utilising a random sample survey method the respondents chose whether to prioritise treatment of patients with rare versus common diseases and then decided on how to allocate funds between the two groups. The results showed that the doctors displayed no general preference for prioritising treatment of rare diseases, but they favoured reserving a small share of funds for rare disease patients. However, when confronted with the idea of allocating funds for a more expensive rare disease, the doctors’ responses were significantly different from those of the general population. They were much less likely than the general population to divide funds equally between the groups, prioritising treatment for largest number of patients with common diseases rather than specific patients with rare diseases. The general population preferred equal or even higher allocation of funds among rare disease patients. Although preliminary, these results raise a possible ethical dilemma about whose values should be consulted in determining priorities in the health sector. 
GlaxoSmithKline (GSK) is joining hands with the French firm Kurma Life Sciences Partners as well as other investors CDC Entreprises, Idinvest Partners and New Enterprise Associates to invest venture capital that will fund the development of drugs for rare diseases. GSK is investing 17.5 million euros for partnerships that will lead to effective orphan medicincal products to the market. In light of a recent report on the promise of orphan drugs to be profitable to drug companies, GSK is a step ahead of its rival in trying to tap into effective partnerships that are involved in developing orphan medicinal products. 
