National rare disease plans: Slovenia adopts a strategy, while the Netherlands move forward its development process, and a UK proposal opens for comments
In Slovenia, a national plan for rare diseases was officially adopted in early 2012. The Work Plan for Rare Diseases in Slovenia, which is designed to serve as a roadmap until 2020, is qualified as “… an opportunity for better coordination of efforts of all partners involved, establishing health care that will be comprehensive, accessible, timely and patient-focused”. The major objectives of the plan centre around the Identification and monitoring of rare diseases; Improving early diagnosis and access to appropriate medical treatments; Mechanisms to improve an integrated approach to rare diseases; and Improving access to information for patients, the general public, and professionals. Amongst identified actions include the establishment of a national registry for rare diseases; establishment of national reference centers integrated with international networks; examining cross-border cooperation for genetic testing and other services; introducing a system of evidence-based clinical guidelines; defining orphan drug policy and developing decision guidelines for competent authorities; identifying additional funding sources for orphan drugs; establishing an umbrella organisation of patient groups; and establishing a national centre for rare diseases in the country. The next identified steps include the development of an action plan for the implementation of the measures and identifying funds.
Consult the plan (in Slovenian)
The Nationaal Plan Zeldzame Ziekten (NPZZ) is a new website (available in Dutch language) developed as an initiative of the Dutch Steering Committee on Orphan Drugs. The goal of the NPZZ website is to collect input from various stakeholders in order to build a Dutch National Plan for Rare Diseases. The website is open to all individuals and/or organisations who wish to have a say in the Netherlands’ rare disease strategy. The Dutch national plan will consist of four main chapters comprising information, care, research and knowledge (education), and therapy. Each of these four central topics will have their own space on the NPZZ website. The same inquiries are made for each of the topics: What resources/structures already exist? What is (still) missing? What should be done to improve the situation? Who is responsible for proposed actions and under what terms? For all aspects of the plan, three cross cutting issues have been distinguished: the patient's voice, the centres of expertise, and awareness.
The NPZZ website makes publicly available all preparatory documents for the National Plan along with other relevant documents and anyone who wishes to can leave a comment on the website. Thus, the building of a national plan for rare diseases is to be a transparent process. The NPZZ website is coordinated by the Netherlands Organisation for Health Research and Development (ZonMw), which has been commissioned by the Ministry of Health, Welfare and Sport to coordinate the input on this website in 2012, following up on the initial work of the Dutch Steering Committee on Orphan Drugs. In November-December 2011 four multidisciplinary expert groups investigated the first two questions for each of the rare disease plan chapters. In January-March 2012, stakeholders started collecting possible solutions for the issues raised and discussing these on the website and in a public hearing. In April 2012, the first concept of the Dutch National Plan as a whole was developed on the basis of the input on the website, from meetings and from the four experts groups. It is scheduled to be presented at a meeting in mid-June. In the autumn of 2012, the focus will be on implementation issues and exploration of the feasibility of the proposed actions in the national plan with appropriate stakeholders. Suggestions for integrating the three interrelated issues (the patient's voice, centres of expertise and awareness) will be addressed in this phase, together with financial aspects and sustainability. The goal is to deliver the final plan by the end of 2012. Stakeholders (especially the patients) will play a crucial role to keep the plan on the agenda and to work on the implementation.
Visit the NPZZ website
Meanwhile, in the UK, response to the Consultation for a Rare Disease Plan, including an Editorial article in the BMJ, seems to indicate that the proposed strategy leaves out several key elements and that some of what is suggested may not be feasible. Criticisms include the absence of a concrete proposal for funding as well as a lack of emphasis on research. The BMJ article finds fault with the assignment of responsibility for commissioning (to provide networks of care for rare disease patients) to the National Health Service. Geographically, the scheme set out in the consultation would be difficult to engineer. At the present time, nationally commissioned services only extend to 60 rare diseases. The authors of the BMJ article suggest that a strategy developed by the Renal Association for rare kidney disorders could be more readily implemented. It calls upon expert groups of clinicians, researchers and patients to work on specific diseases or groups of diseases. The UK Consultation for a Rare Disease Plan is open for comments until 25 May.
View the UK Consultation for a Rare Disease Plan
According to a news article on China.org, a government portal published under the auspices of the State Council Information Office and the China International Publishing Group, rare diseases will qualify for benefits under the country’s charity aid scheme. The Ministry of Civil Affairs in China will include rare diseases eligible for benefits beginning this year. Many of China’s local medical institutions lack diagnostic and treatment resources for rare disease patients and the country has not yet established an official definition for rare diseases or determined the numbers of people affected. 
Ireland has launched an information campaign on the topic of Newborn Bloodspot Screening Cards. Ireland screens newborns for six conditions, all of which are rare. All cards from 1984 onwards have been archived, but the Office of the Data Protection Commissioner, following a review in 2009, indicated that newborn screening cards currently stored without explicit consent should be disposed. The Department of Health reviewed the issue further in 2011 and asked the Health Service Executive (HSE) to implement this position, indicating that continued storage of archived newborn screening cards “… breaches both EU and national data protection legislation”. The HSE has indicated that any parents, individuals or clinicians who wish to access their archived newborn screening cards prior to disposal may do so. Cards could be donated to medical research, should parents choose. Some experts lament the destruction of the cards, stating that they constitute a resource for both research and informational purposes. In July 2011, modifications to the programme were introduced nationwide, including the launch of an enhanced information and consent process for all parents and guardians. Pending consent, newly produced cards will be stored as part of the baby’s health record for ten years by the National Newborn Bloodspot Screening Laboratory, after which they will be disposed. 
The Centre for Biomedical Network Research on Rare Diseases (CIBERER) together with the ECCO group at the Almeria University and the GIDYC group at the University CEU Cardenal Herrera (Valencia) has co-published a guide for patient organisations in order to help them establish satisfactory relations with the media and journalists. The brochure contains ten recommendations explaining how the media function, the type of information that interest the media, and how this information should be produced, among other topics. The document is sponsored by the Spanish Foundation for Science and Technology (FECYT), and is available in Spanish language on the CIBERER 
The first meeting on Biochemistry and Molecular Genetics, organised by the Faculty of Medicine (University of Algiers I) in coordination with the Laboratory of Biochemistry and Molecular Genetics, took place in Algiers recently. Meeting participants evoked the lack of early diagnosis for rare diseases, resulting in large part from consanguineous marriages. The need to improve diagnostics and increase drug availability was discussed. Speakers emphasised supporting scientific research through the establishment of national programmes, promoting lifelong learning and knowledge sharing, and strengthening relationships between medical specialists and policy makers for patients. They also highlighted the importance of establishing a national strategy to support people with unidentified rare diseases. According to national statistics, an estimated 3% of newborns suffer from rare conditions in Algeria, a country of some 37 million people. Of the 7000-8000 rare diseases identified to date, there are some 1000 with a higher prevalence in the country. A call was made for a greater effort to identify and treat patients via networks of trained physicians throughout the country.
A Brief Report appearing in the Journal of Medical Ethics considers the situation of rare diseases in Colombia’s indigenous ethnic populations. Taking the high-cost disease mucopolysaccharidosis VI (MPS VI) as an example, the authors examine various ethical and economic points of care for rare disease patients amongst minority groups in developing countries. Geographical and cultural marginalisation coupled with a lack of financial resources can make access to diagnostics and treatment for rare diseases particularly challenging for indigenous populations, which, due to their isolation and consequent consanguinity, can have higher rates of autosomal recessive disorders. In Colombia, the authors have identified 27 cases of MPS VI, caused by a lack of arylsulfatase B and resulting in incomplete degradation and cellular accumulation of glycosaminoglycans, leading to cell injury, severe disability and premature death. Of these, 10 cases are in indigenous groups. The estimated prevalence is thus 1 in 1700000 for the general population and 1 in 140000 for the country’s indigenous population. Approved treatment for MPS VI (galsufase) is estimated to cost between €150000 and €450 000 per year. Interestingly, the authors assert that evidence of MPS-like disease has been found in clay figurines dating back to prehistoric times. An added complication arises from the role of traditional healers in indigenous groups, who can be openly opposed to orthodox medical intervention. The authors identify the prohibitively high cost of treatment, geographic demands required for obtaining regular treatment, cultural attitudes toward conventional medicine and administration, and delayed diagnoses amongst the particular and complex challenges for MPS VI patients in these populations. It is suggested that genetic counselling and screening in high-risk populations could reduce the burden of MPS VI and other inherited disorders. The Colombian Ministry of Health is considering introducing tandem mass spectrometry to screen newborns for metabolic disorders. 
A new genetic testing law came into effect in the Czech Republic on 1 April 2012. Act 373/2011 Sb regulates genetic testing for rare diseases and reflects the Council of Europe’s Additional Protocol to the Convention on Human Rights and Biomedicine concerning Genetic Testing for Health Purposes (CETS No 203) which regulates Direct to Consumer (DTC) testing via specific informed consent provisions. Policies toward DTC testing vary across the European Union. Some Member States have banned the practice completely while in other countries it goes largely unregulated. Within the Council of Europe Treaty Series, the Convention for the Protection of Human Rights and Dignity of the Human Being with Regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine (often referred to as the Oviedo Convention), signed by most of the European Member States, sets out the fundamental principles applicable in day-to-day medicine as well as those applicable to new technologies in human biology and medicine. The additional protocol to the Convention, concerning genetic testing for health purposes, was adopted by the Committee of Ministers in May 2008 and needs five ratifications, including four from Member States to enter into force. 
