National programme for the development of the care of patients with rare diseases in the Slovak Republic for the period 2016 - 2020

National programme for the development of care for patients with rare diseases in the Slovak Republic, for the period 2016 – 2020 (hereinafter referred to as "the national') the programme (s) was prepared by the Commission of the Ministry of Health of the Slovak Republic Republics for Rare Diseases (Rare Diseases, RD) (hereinafter referred to as "the Commission') on the basis of the task No C.1 of the Government of the Slovak Republic Resolution No 578 of 24. On 1 October 2012, the Slovak Government approved the National Strategy the development of healthcare for patients with rare diseases; the years 2012 and 2013.

The national programme follows the National Strategy with its content focus the development of healthcare for patients with rare diseases; the years 2012 and 2013. The practical implementation of the national programme shall be submitted to: the period from 2016 to 2020. The national programme also includes an action plan; developed into health sector conditions according to 9th basic priorities (See. Annex 1 The Resort Action Plan will be at two-year intervals updated, in particular in relation to the current volume released funding for the practical implementation of the national programme in the relevant two-year period. It will then be submitted to the Government of Slovakia the Republics for approval.

Introduction

European initiatives so far have identified a number of major problems in the areas of rare diseases (hereinafter referred to as "GARs'):

• insufficient identification of the extent of the problem of highly heterogeneous diseases,

• insufficient identification of HS within the International Classification of Diseases Version 10 (hereinafter referred to as "MKCH-10'),

• serious deficiencies in diagnosis and treatment due to extreme rarity, defective or delayed diagnosis often leads to irreversible damage to the health or death of the patient,

• unevenness and poor quality of services provided (specific support, nursing and specialised care requirements social services),

• very limited choice of medications for ZCH treatment,

• the complexity of ZCH research, in particular in the field of drug research for ZCH,

• gaps in data collection at national and regional level,

• insufficient awareness of the ZCH, both for professional and for the general public,

• frequent gaps in social care and legal assistance because of the chronic and often progressive course of these diseases.

The establishment of the national programme is intended to contribute to a substantial improvement general care for patients with ZCH.

Priority No. 1
To develop public awareness of the issues of CSR:

Awareness about ZCH issues, both with professional and with the general public is generally insufficient. The dissemination of knowledge and information on CSR is a prerequisite for the development of care for patients with ZCH.

An important contribution to the development of care for patients with ZCH is also the work of the Slovak Alliance of Rare Diseases (hereinafter referred to as 'SAZCH'); and cooperation with professional companies of the Slovak Medical Company. The practical steps of support consist in a range of mass media communication: conferences, seminars, workshops, media campaigns, print materials, Information materials, websites, foreign Internet sources (e.g. Oranget, OMIM, EUCERD, CEGRD, EURORDIS, EUROPLAN), significant annual activities (e.g.: Rare Disease Day, National Conference on Rare Diseases disease).

Priority No. 2
Expand the training of the professional public on CSC:

• Further training
  Further training of healthcare professionals, especially in specialization fields: medical genetics, paediatrics, clinical oncology, neurology, Ophthalmology, Haematology and Transfusiology, Endocrinology, Clinical Immunology and allergology and rheumatology should draw more attention to ZCH issues, providing sufficient information and motivating activities in the benefit of patients with ZCH.

• Conferences on ZCH issues
  Conferences, seminars, workshops and international educational materials are basic tool for updating knowledge, activities and knowledge ZCH issues. It is also appropriate to use extensive international activities. Support for the organisation of a nationwide programme conference with ZCH issues.

Priority No. 3
Expand and improve diagnosis, treatment and care of patients with ZCH:

• Dissemination of laboratory diagnostics
  Supporting the application of the latest diagnostic methods, including the latest Laboratory methods in diagnostics ZCH, with an extension of the information option sources on availability of laboratory diagnostics of ZCH in the Slovak Republic. V medical genetics is the current extension of molecular genetic options diagnosis of genetic and hereditary diseases.

• ZCH in DRG and e-Health
  Support for enshrinement of ZCH in the development and use of DRG and the environment e-Health to take into account the objectives of the national programme.

• Centralisation, hierarchy of care and support for development specialized workplaces for ZCH
  For the development of healthcare for patients with ZCH Effectiveness - centralisation, hierarchy and national support specialized expertise for ZCH in the Slovak Republic (so-called. ZCH expertise centres as recommended by EUCERD). When setting up national specialized expertise for ZCH in the Slovak Republic will be quality criteria applied, based on European qualitative criteria. Network of national specialised expertise Offices for ZCH in the Slovak Republic should be connected to the European reference network in accordance with Directive of the European Parliament and of the Council 2011/24/EU of 9 March 2011 on the application of patients' rights in cross-border cases health care (hereinafter referred to as "EU Directive').

• Professional guidance on quality of healthcare
  Quality criteria in the provision of services are very important for the ZCH issue health care. Further professional development is necessary Guidelines for FCH and support the systematic use of European standard diagnostic and therapeutic procedures.

• Financing healthcare

• Funding needs to be provided in cooperation with health insurance companies health performances essential for the diagnosis and treatment of patients with ZCH, as well as medical devices, taking into account the prevalence of ZCH.

• EU directive and its impact on the area of ZCH, diagnosis and treatment of patients with ZCH
  Application of the EU Directive aims to remove barriers to accessibility diagnosis and treatment of patients with ZCH. Implementing the EU Directive Slovak legislation and its practical use will enable diagnostics and treatment of wide range of ZCHs provided in specialised workplaces in the EU.
  Availability of medicines for ZCH - Orphan drugs - is in the Slovak Republic provided in accordance with current legislation (e.g.: classification of medicinal products, Exceptional imports). Since 2010 there has been a significant decrease in categorization medicinal products with the status of orchan (r. 2002 - 2010:26 vs. 2011 - 2014:2). Direct availability of medicines is just one of the European indicators of availability of medicines Orphan for ZCH. The national programme should create scope for streamlining the process of access to orchan medicines. Alternative use should be considered. pharmaco-economic analyses, as in other European countries (e.g. budget impact analysis or managed entry agreements or market access agreements, i.e. possible agreements with the payer on sharing the cost and/or risk of introducing a new pharmacological intervention, or the separate budget of health insurance companies for these medicines.

• Supplementing workplace equipment with technology, financing development support workplaces
  In particular, the building of national specialised expertise workplaces for ZCH in the Slovak Republic and their connection with the European a reference network of specialised workplaces for the ZCH. Financial support for the introduction of new technologies and the necessary instrumentation.
  Support and development of selective screening of ZCH in Slovakia is also important Republic, promotion of science and research in the field of ZCH, development of international cooperation etc.

Priority No. 4
Screening and prevention of ZCH:

• Screening center of newborns in the Slovak Republic
  The screening center of newborns in the Slovak Republic reached in recent periods such a quality level and efficiency comparable to the most developed countries.

• Selective screening of hereditary metabolic disorders
  Extension and improvement of selective screening of hereditary metabolic failures is one of the priority activities of the national programme. Screening the newborn was enlarged by 9th metabolic diseases, but the diagnosis and subsequent healthcare is neither capacity nor instrumental relevantly secured. This adds additional quality requirements selective screening from: paediatrics, neurology, clinical genetics; and other medical disciplines. At the same time, this area is closely linked to indications of genetic testing. From a medical point of view, the complex diagnostics are developing extremely quickly and appropriate capacity needs to be given.

• Other bugs and diseases scrambled in newborns
  There is a developed neonatal screening of hearing disorders in the Slovak Republic, hip, CNS, kidney and heart. In developing this area of screening, and follow-up healthcare needs to be continued.

• Pre-design and pre-natal diagnostics (new genetic methods, new methods) diagnostic methods)
  Rapid development of high resolution genetic testing methods (e.g.: ArrayCGH, array karyotyping, massive parallel sequencing, non-invasive prenatal genetic diagnosis, next generation seqencing) finds its application in Slovak practice. Support for implementation of these methods as well as other new diagnostic methods; The whole wide range of issues ZCH. Need to find and allocate financial resources to use these methods in clinical practice. In this respect is very important permanent communication of professional companies with the Ministry Health of the Slovak Republic and with health insurance companies.

• Equipment finishing, personnel requirements, financing
  Requirements have been identified, in particular for the completion of national specialized expertise for ZCH in the Slovak Republic adequate techniques and qualified personnel (e.g. tandem mass spectrometry for selective screening in Slovakia, array karyotyping in cytogenetics and prenatal genetic diagnosis, next generation seqencing in the diagnosis of monogenic diseases, etc.).
  Funding for the organisation of the entire health system is also important care, follow-up to neonatal screening in Slovakia Republic (specialised clinics for clinical diagnosis of ZCH + paediatrics + Medical genetics + Centers for Diagnosis of hereditary metabolic disorders + clinical genetic laboratories).

Priority No 5
Support for ZCH science and research:

• Resort Research
  There is a great interest in supporting basic but also applied research under grant schemes at sectoral level.

• Extra-resort research
  There is a strong interest in linking basic research to applied research Research on issues ZCH.

• International cooperation in research
  International cooperation in the field of research is foreseen participation of the Slovak Republic in international projects, exchange experience, information (e.g. ORPHANET, EUROORDIS, ERNDIM, EUROCAT, etc.). Involvement of the Slovak Republic in international projects should facilitate easier access to national grant projects and guarantee conceptual approach to the issue.

Priority No. 6
Collection of patient data with ZCH and creation of a ZCH registry:

• Register ZCH, as data collection from all relevant National Health registers and their connection to the virtual national registry for ZCH s follow-up to the e-Health project
  There is no objective epidemiological data in the Slovak Republic on Prevalence of ZCH. This is mainly due to the complicated verification of the diagnosis of ZCH, and the availability of diagnostic procedures for diagnosis of ZCHs; and low representation of ZCH diagnosis in MKCH-10. In addition, coordination of activities and cooperation of relevant experts in the field of CSR at national level The level was limited by preference in particular for mass-occurring other chronic diseases to the detriment of ZCH.
  National Health Information Centre leads several national Health registries from which patients with ZCH can be identified. V There are also several specialised national Registers only for some ZCHs or groups of ZCHs that are kept at specialised workplaces. For knowing the occurrence of ZCH in Slovakia It is important to use current and new reports in national registers, which are mainly determined by the reporting level discipline. A key source of data is the National Registry of Congenital Patients Developmental error involving the reporting of hereditary diseases; genetic defects and ZCH.
  At the same time, the requirements for creating a European the ZCH registry. In this context, that register shall have an indispensable role, in particular in planning for the development of health care in the area of health care, in their research, in the development of medicines for ZCH, Orphan drugs, as well as in others Activities aimed at improving the quality of life of patients with ZCH (education, social inclusion, etc.) Last but not least in planning the cost of health insurance companies to the CSC according to the actual number of patients.

Priority No. 7
Caring for quality of life and social inclusion of patients with ZCH (support and strengthening of patient organizations for ZCH in Slovakia) Republic of:

• International Classification of Functional Skills, Diability and Health
  In health and social services (in terms of linking them and Suicide), there are many areas to develop a coordinated procedure. In this context, the current question of how to apply International Classification of Functional Competences, Diability and Health health care. Cooperation with WHO Office in Slovakia is beneficial; and Ministry of Labour, Social Affairs and Family of the Slovak Republic, which are active in this area. International Classification of Functional Competences Difficulty and health helps to improve assessment activity in classification of disability impacts, determining the level of functional malfunctions, when considering further application, particularly important for the inclusion of disabled people in active social life.

• Supporting the efforts of patient organisations in the field of CSR
  It is important to promote the practical work of patient organisations and systemically exploit and support the potential of SAZCH as a European good an established national alliance for interdepartmental and interdepartmental cooperation. A representative of SAZCH is a member of the Commission, through which he may co-ordinate cooperation across the broad spectrum of issues.
  It is particularly important to find financial resources for grant projects promoting cooperation between SAZCH and patient organisations with professional companies, national specialised expertise centres for ZCH in the Slovak Republic and clinical workplaces for ZCH.

Priority No 8
Inter-ministerial cooperation in ZCH and the Departmental Commission:

• Tasks of the Departmental Commission
  The main tasks of the Commission are to support the implementation of the National Strategy the development of healthcare for patients with rare diseases; the years 2012 and 2013; Commission also prepares documentation for updating the sectoral action plan.

• Inter-ministerial cooperation on issues ZCH
  The issue of ZCH is most relevant to the health sector. But it's a lot wider, therefore from the Ministry of Labour, Social Affairs and Family of Slovakia Republic and Ministry of Education, Science, Research and Sport of Slovakia The Republic expects participation in the practical implementation of the national programme.
  Funding and the way in which health care is paid are linked to the issue of CPD care, social security, research, statistics, social aspects, international cooperation.

Priority No 9
Foreign cooperation in the field ZCH:

• Implementation of the EU Directive
  Substantial extension and simplification of the practical use of international cooperation is provided by the EU Directive, which has been transposed into Slovakia legislation. The Commission will regularly monitor the implementation of the EU Directive and its use in practice.

• Implementation of European recommendations
  Foreign cooperation on issues ZCH is particularly necessary for small EU Member States. It is implemented by sharing experience, exchanging information and recommended procedures.
  EUCERD - currently CEGRD (Commission Expert Group on Rare Diseases) draw up recommendations for the three key activities of care development ZCH patients and all identified with the importance of international cooperation. Quality criteria for National specialist workplaces for CSR, recommendations for European reference networks and recommendations for TSG registers.

• International cooperation between patient organisations
  International cooperation with patient organisations will be particularly impeded through SAZCH and EURORDIS.

• Participation of the Slovak Republic in projects and programmes
  It is necessary to support the interest of Slovak workplaces to participate in foreign programmes and projects in the field of TSG within the framework of international cooperation (e.g. EUROPLAN, EUROCAT, ICBDSR, Eurogentest, Orphanet, ESHG, ESHRE, ERNDIM, ICBDSR, EK IrDirC project). Involvement of the Slovak Republic Foreign programmes should allow easier access to national a grant project.