Keywords Kúcové slová: INTRODUCTION Rare disease registries and data collections aim to speed up the acquisition of knowledge and the development of clinical research. Nevertheless, the registries as well as data collections should be adaptable to serve regulatory purposes, when required. For these reasons, rare disease registries and data collections are one of the priorities of the European Commission in the field of rare diseases. * email@example.com © Acta Facultatis Pharmaceuticae Universitatis Comenianae Thanks to the European Union Committee of Experts on Rare Diseases, Recommendations on Rare Disease Patient Registration and Data Collection were elaborated (Recommendations on Rare Disease Patient Registration and Data Collection, 2013). It supports the idea of rare disease registries and data collections as valuable instruments for increasing knowledge on rare diseases. Besides increasing knowledge, rare disease registries could serve as a support for fundamental, clinical and epidemiological research, as well as for post-marketing surveillance of orphan medicinal products and medicines used off-label. From the point of view of healthcare policy, this is crucial for the planning of healthcare services and expenditure allocations. The Recommendations call for the international operability of registries and databases and use of appropriate coding systems to enable the necessary data pooling for public health and research purposes. The Recommendations also give advice concerning the establishment of registries and data collection and highlight the various uses of patient data as well as the best way to share this information. A similar situation is in the Slovak Republic. The targets of the initiatives to improve care for patients with rare diseases in EU include the creation of a specific national registry of rare diseases. The resolution no. 578 of the Government of the SR from 24 October 2012 approved the National Strategy for the Development of Health Care for Patients with Rare Diseases and the preparation of the National Plan of Health Care for Patients with Rare Diseases is currently underway (National Strategy for the Development of Health Care for Patients with Rare Diseases for the Years 20122013. The creation of the Registry of Rare Diseases comprises a priority part of these activities. Generally, a patient registry is an organised system that uses observational study methods to collect uniform data (demographical, clinical and/or other). It serves for the evaluation of specified outcomes in a population defined by a particular disease, condition or exposure. In this case, the common characteristic is the low prevalence of the disease rare disease (not more than 5 in 10,000) (Regulation (EC) No. 141/2000 of the European parliament and of the council. The purposes of the registry are different. The registry might serve one or more predetermined scientific, clinical or policy purposes. A registry database is a file (or files) derived from the registry (Gliklich RE et al., 2010). to National Health Registries, their characteristics, details on the content of national health registries, procedures, methods, coverage of reporting units and time limits of reporting to national health registries. The currently prepared Slovak registry is a population-based registry as it refers to a geographically defined population people who live in Slovakia. It aims to register all cases of rare disease patients in the Slovak population (rare diseases of genetic origin as well as rare diseases from the category of congenital anomalies). It will serve mainly the policy purposes. The advantage of the registry is that it takes into account the European Union Committee of Experts on Rare Diseases (EUCERD) recommendation from June 2013, which recommends adaptation of the existing registries according to the changing environment in the European and international context. It takes into account the six core recommendations on the rare disease patient registration produced by EUCERD in June 2013: · International interoperability in the collection as well as the exchangeability of data, thus allowing sufficient statistically significant numbers for clinical research and public health purposes. · Applicability as information source, thus speeding up the knowledge and development of clinical research. · Utilisability for health and research purposes. · Adherence to good practice guidelines in the field. · Adaptability for regulatory purposes. · Sustainability. RESULTS AND DISCUSSION As 85% of rare diseases are genetic and a lot of congenital anomalies are genetically conditioned, we were looking for the possibilities of using the existing registries run by the National Centre of Health Information to create a virtual registry of rare diseases. In fact, the existing National Registry of Congenital Anomalies appears to be the closest in its nature. This registry has had a long and successful history in Slovakia. The data have been published since 1965. This is to be credited to the diligent work of neonatologists and to their good cooperation with NCHI. Over these years, the registry has undergone more changes in the system of reporting as significant changes in discovering aetiological connection with congenital anomalies took place. Congenital anomalies entered into the registry by paediatricians as well as neonatologists. Over these 2 years, the system has gradually become established. According to Act No. 153/2013 on the National Health Information System and on Amendments and Additions to Certain Laws, since 2014, the National Registry of Patients with Congenital Anomalies consists of: 1. Registry of Congenital Anomalies (all congenital anomalies including inherited and genetic disorders and rare diseases). 2. Registry of Congenital Heart Defects (specific reporting). METHODS AND RESULTS The National Centre of Health Care Information prepared the ground for the collection of data on patients with rare diseases. The preparation of the National Registry of Rare Diseases requires that these legislative standards be taken into account: · European Union Committee of Experts on Rare Diseases: Recommendations on Rare Disease Patient Registration and Data Collection. 2013 Accessible at: http://www.eucerd.eu/wp-content/uploads/2013/06/EUCERD_Recommendations_RDRegistryDataCollection_adopted.pdf. · SR. Act no.153/2013 on the National Health Information System and on Amendments and Additions to Certain Laws. · SR. The Decree of the Ministry of Health Care of the Slovak Republic of 11 March 2014, which defines a list of reports Data for the ,,Registry of Rare Diseases" (diseases with incidence lower than 1:2000) will, in addition to the up-to-now used reporting form on congenital developmental disorders entitled ,,Report on Congenital Anomalies in Live Births and Stillbirths" (Figure 1), be obtained from two new reporting forms that will be filled in by clinical geneticists: 1. Report on Congenital Anomalies Inherited Diseases, Genetic Disorders and Rare Diseases (Figure 2). 2. Report on Congenital Anomalies of the Foetus Genetics (Figure 3). The content of the collected and processed data is thus constituted by the information on all prenatally and/or postnatal diagnosed congenital anomalies (in the broad sense of the congenital anomalies including inherited diseases, genetically conditioned developmental disorders and rare diseases with incidence lower than 1:2000). Out of these databases, diseases with the specification of rare diseases are selected by software means. As of the 1 January 2014, it is obligatory to report selected genetic diseases and disorders to clinical geneticists as a part of the National Registry of Patients with Congenital Anomalies. Clinical geneticists will report inherited and genetic disorders, i.e. rare diseases in a separate reporting form: Report on Congenital Anomalies Inherited Diseases, Genetic Disorders and Rare Diseases (Figure 2). Clinical geneticists will report the detected chromosome abnormalities, significant monogenic diseases and clinicalgenetic syndromes. They will thus build on the experience with the so-called "Genetic registry SR", which was run under the Slovak Society of Medical Genetics for more than 10 years. The extent of information as well as the obligations concerning reporting is summarized in Table 1. The information source for the virtual "Registry of Rare Diseases" was extended to include also prenatally identified genetic defects (Report on Congenital Anomalies of the Foetus genetics Figure 3). NCHI keeps a separate registry of congenital heart disorders within the National Registry of Patients with Congenital Anomalies. Other registries of rare diseases of NCHI include: · National Cancer Registry. · National Registry of Patients with Diabetes Mellitus. · National Neurological Disorders Registry. · National Chronic Lung Disease Registry. Out of these registries, we intend to select patients with rare diseases by software means and coding. This is only possible provided that correct rare disease coding is used, which means not only the use of ICD 10 codes but also the use of specific codes of genetic disorders OMIM (Online Mendelian Inheritance in Man) and codes of rare diseases according to ORPHANET (ORPHA codes of rare diseases). Table 1. The List of reports to the National Registry of Congenital Anomalies and their characteristics and other details according to the Decree no. 74/2014 Coll. (Decree of the Ministry of Health of the Slovak Republic no. 74/2014) DETAILS ON THE CONTENT ACCORDING TO ICD 10 1. Coagulation defects, purpura and other haemorrhagic conditions (D66D68.2) 2. Thyroid disorder (E03.0E03.1) 3. Congenital malformations of the nervous system (Q00.1Q07.9) 4. Congenital malformations of eye, ear, face and neck (Q10.0Q18.9) 5. Congenital malformations of the circulatory system (Q20.0Q28.9) 6. Congenital malformations of the respiratory system (Q30.0Q34.9) 7. Cleft lip and cleft palate (Q35.1Q37.9) 8. Other congenital malformations of the digestive system (Q38.0Q 45.9) 9. Congenital malformations of genital organs (Q50.0Q56.4) 10. Congenital malformations of the urinary system (Q60.0Q64.9) 11. Congenital malformations and deformations of the musculoskeletal system (Q65.0Q79.9) 12. Other congenital malformations (Q80.0Q89.9) 13. Chromosomal abnormalities, not elsewhere classified (Q90.0Q98.9) LIST OF REPORTS 1. Report on congenital developmental disorder in live births and stillbirths 2. Report on congenital developmental disorder in the foetus genetics 3. Report on congenital developmental disorder inherited, genetic disorders and rare diseases 4. Report on congenital heart defects THE OBLIGATION TO REPORT APPLIES TO A) Provider of constitutional health care the following departments: 1. Neonatology including the intensive care unit 2. Paediatric department including the intensive care unit 3. Neonatal resuscitation care unit B) Provider of outpatient health care operating a clinic: 1. General paediatric care 2. Paediatric cardiology 3. Medical genetics An important role in the process is assumed by paediatricians general paediatricians, as they are obliged to record and report everything pertaining to rare diseases. What represents a problem is the registration of adult patients with rare diseases who are not registered at medical genetics clinics but in specialised centres, e.g. the Centre for Hereditary Hematologic Disorders. Possibilities of categorization of information from clinical sources will have to be dealt with gradually. CONCLUSION The creation of the registry of patients with rare diseases at the European and national levels represents a great challenge to health care and information systems. Gradual expansion of the content of the existing registries is, however, one of the promising conceptual approaches. Gradual approach guarantees easier implementation as well as future sustainability.
Acta Facultatis Pharmaceuticae Universitatis Comenianae – de Gruyter
Published: Aug 30, 2014