The orphans have been adopted! The EU rare disease recommendation passes under Czech EU Council Presidency
For a while it seemed touch-and-go. The latter stages of the process leading toward the adoption of a Council Recommendation on an Action in the Field of Rare Diseases were besieged by challenges. Stakeholders were already holding their breath through the complex and time-consuming Parliamentary elections, and before they could relax again, the sudden and unexpected outbreak of the A/H1N1 virus occurred - a phenomenon that could easily have toppled the Council Recommendation from the European Council agenda. Would the final adoption by the Council of Ministers have to be postponed until the Swedish term of the EU presidency?
In fact, perserverance of the committed Czech team which was behind all negotiations ensured that the adoption procedure stuck the course and appeared on the Council of Ministers agenda on its scheduled date of 9 June 2009. At the 2947th Council session of the European Union (Employment, Social Policy, Health and Consumer Affairs) taking place under the Presidency of Mr Petr imerka, Minister of Labour and Social Affairs, Mr Michael Kocab, Minister for Human Rights and National Minorities, and Ms Dana Juraskova, Minister of Health of the Czech Republic, the final adoption of the Council Recommendation on an Action in the Field of Rare Diseases took place.
Of the many players who contributed to the passage of the precious text that delineates a strategy of action for the EU Member States (MS), one person in particular worked hard in the final stages to ensure that adoption of the Recommendation went through on schedule during the term of the Czech Republic EU presidency. Professor Milan Macek Jr., Chairman of the Institute of Biology and Medical Genetics, Charles University-2, School of Medicine Prague, and the key advisor the Sector Agenda for Rare Diseases under the Czech EU Presidency, toiled incessantly to ensure that the momentum did not get derailed.
Up to the final moment of adoption, the possibility of discord amongst the Council Ministers threatened to hinder the process. The challenge, commented Prof. Macek, lay in “…trying to reconcile the conflicting views on the role of government in regulating healthcare, together with balancing the principle of national “subsidiarity” with EU-wide principles in this area .” These differences, he explained, are a “reflection of the rich cultural diversity across Europe.” He defined one principal challenge of the Council Ministers meeting as “keeping the focus on the crucial elements of the Recommendation”. Despite different perspectives, the final document was adopted unanimously. The Recommendation sets out twenty specific recommendations gathered into seven main strategic areas:
The adoption of the Council Recommendation on rare diseases is being celebrated as the final hurdle successfully cleared toward a cohesive harmonised approach to rare diseases across Europe. The original Communication on European Action in the Field of Rare Diseases, entitled Rare Diseases: Europe’s Challenges, was drafted by the European Commission in close collaboration with the Rare Disease Task Force between June and October 2007. The document opened for public consultation in mid-November. Readers may recall that the public consultation to the Communication garnered an unprecedented number of responses: Almost 600 contributions were received from 15 MS during the three-month consultation period, outdistancing the previous contender for most responses by over 400 comments. (The average number of responses to a consultation is 60). This overwhelming reaction was taken as a sign of proof of the pertinence of the Communication on Rare Diseases and the desire across Europe to see its provisions implemented in the near future. The comments received were consulted and the document was adapted accordingly. Next, the Communication was subject to an impact assessment that studied the political and financial consequences, amongst other considerations, between March and June 2008. It then went for an inter-service consultation from July 2008 through October 2008 involving DG Enterprise, DG Research, DG Information and Society, DG Budget, DG Employment, DG Relex, DG Market and the legal service of the European Commission. Finally, on 11 November 2008, the Communication on rare diseases was adopted via oral procedure, by the college of Commissioners, along with a proposal for a European Council Recommendation on a European action in the field of rare diseases. Then, earlier this year, the European Parliament and the European Social and Economic Committee issued opinions on the Proposal for a Council Recommendation, overwhelmingly supporting the contents of the crucial document. The amendments issued during this process were incorporated into the final text adopted on 9 June by the European Council of Ministers - a body that serves to define the general political guidelines of the European Union and is the main decision-making agent. Every Council meeting is attended by one minister from each EU country. For the meeting on the rare disease Recommendation, it was typically the ministers of health who attended.
Some countries already have national rare disease plans in place. France was the first country to implement a national plan specifically for rare diseases; Bulgaria and Portugal have since followed suit. Other MS are in the midst of defining strategies for rare disease research, diagnostics, treatments, and care. And still other countries are gathering momentum and expertise to launch the process. The Irish Times, for example, ran a news article in response to the adoption of the Council Recommendation, calling for a national plan for the country. OrphaNews Europe intends to follow very closely the actions of each EU Member State on fulfilling specifications of the Council Recommendation.
View the Council Recommendation (available in 22 EU languages)
In late April, the American College of Medical Genetics (ACMG) issued a Position Statement on the Importance of Residual Newborn Screening Dried Blood Spots in response to a call to destroy the filter cards that are used in newborn screening once the initial screening process is terminated. In May 2006, it was recommended that all newborns in the United States be uniformly screened for 29 conditions, most of which are rare and have improved morbidity and mortality when early detection is achieved. To date, many states have followed this recommendation and implemented comprehensive newborn screening practices. A recent report found that at the end of 2008, all 50 states and the District of Columbia had regulation requiring newborn screening for at least 21 disorders. Some 4.2 million US newborns are screened annually in a process that utilises a dried blood spot filter card. The dried blood spots samples from this process can be used again both for follow-up testing and also toward developing improvements in existing newborn screening tests and for the development of new screening tests. Indeed, the dried blood spot is the “only source of material available” for pilot studies necessary before a new test can be introduced. However, a “very small but very vocal minority” is lobbying for the destruction of the residual newborn screening dried blood spot filter cards once the initial newborn screening process has been achieved. The principal concern of this group involves the issue of privacy. 
Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. Prevalence is 1 in 2500 girls. The disease is characterised by short stature and ovarian failure. Other manifestations may include bone anomalies, lymphoedema, deafness, and cardiovascular, thyroid and gastrointestinal involvement. Following death from acute aortic dissection of two patients with Turner syndrome who were pregnant via ovocyte donation, the French National College of Gynecologists and Obstetricians and the Biomedicine Agency have developed a set of recommendations for increasing the safety of clinical practices for women with Turner syndrome who wish to become pregnant. 
