Šajā tīmekļa vietnē tiek izmantotas sīkdatnes. Turpinot lietot šo vietni, jūs piekrītat sīkdatņu izmantošanai. Uzzināt vairāk.
Teksta versija
LEGAL ACTS OF THE REPUBLIC OF LATVIA
home
 

Republic of Latvia

Cabinet
Order No. 602

Adopted 23 October 2017

On the Plan in the Field of Rare Diseases 2017-2020

1. To approve the Plan in the Field of Rare Diseases for 2017-2020 (hereinafter - the Plan).

2. To determine that the responsible authority for the management, co-ordination and supervision of the implementation of the Plan is the Ministry of Health.

3. The authorities involved in the fulfilment of the Plan shall prepare the information regarding the course of the implementation of the Plan in 2018 and 2019, and submit it to the Ministry of Health by 30 March of the following year accordingly.

4. The Ministry of Health shall ensure the implementation of the measures provided for in the Plan in 2017 and 2018 within the framework of the allocated State budget resources. The issue of allocating additional State budget resources to the Ministry of Health for the implementation of the Plan in 2019-2020 shall be examined by the Cabinet together with the requests for additional financing submitted by all ministries and central State institutions within the process of preparing and examining the draft annual State budget and draft medium term budget framework law.

5. The Ministry of Health shall draw up and the Minister for Health shall, by 1 June 2021, submit to the Cabinet an informative report on the fulfilment of the Plan in accordance with the laid down procedures.

Prime Minister Māris Kučinskis

Minister for Health Anda Čakša

 

(Cabinet
Order No. 602
23 October 2017)

Plan in the Field of Rare Diseases 2017-2020

Riga 2017

Content

I. Summary

II. Background

2.1. Early and Timely Diagnostics of Rare Diseases

Problems to be Addressed

2.2. Timely Treatment and Health Care Co-ordination Oriented to a Rare Disease Patient

Problems to be Addressed

2.3. Improvement of the Circulation of Information Regarding Rare Diseases

Problems to be Addressed

III Targets and Tasks to be Performed

IV Assessment of the Impact on the State and Local Government Budget

Abbreviations

BKUS VSIA "Bērnu klīniskā universitātes slimnīca" [State limited liability company Childrenʼs Clinical University Hospital]
BMC Latvian Biomedical Research and Study Centre
CF Cystic fibrosis
COMP Committee for Orphan Medicinal Products
DNA Deoxyribonucleic acid
EC European Commission
EMA European Medicines Agency
EU European Union
ESF European Social Fund
EHIC European Health Insurance Card
IT Information technologies
CUH Clinical university hospitals
ALRP Association of Latvian Rehabilitation Physicians
ALFP Association of Latvian Family Physicians
ALRFP Association of Latvian Rural Family Physicians
MoW Ministry of Welfare
UL University of Latvia
ARPOL Association of Rehabilitation Professional Organisations of Latvia
Cabinet Cabinet
LR Law or regulation
Regulation No. 1529 Cabinet Regulation No. 1529 of 17 December 2013, Procedures for the Organisation and Financing of Health Care
Regulation No. 746 Cabinet Regulation No. 746 of 2 September 2008, Procedures for the Establishment, Enlargement and Maintenance of the Register for Patients Suffering from Certain Diseases
NHS National Health Service
NGO Non-governmental organisations
ORPHA code System for codification of the RD
PAH Pulmonary arterial hypertension
Plan Plan in the Field of Rare Diseases 2017-2020
PREDA System of the register of patients suffering from certain diseases
PSKUS VSIA "Paula Stradiņa klīniskā universitātes slimnīca" [State limited liability company Pauls Stradins Clinical University Hospital]
WHO World Health Organisation
RAKUS Sabiedrība ar ierobežotu atbildību "Rīgas Austrumu klīniskā universitātes slimnīca" [limited liability company Riga East Clinical University Hospital]
RD Rare diseases
RSU Rīga Stradiņš University
S2 form S2 form "Confirmation of the right to planned medical treatment"
CDPC Centre for Disease Prevention and Control
ICD International Statistical Classification of Diseases and Related Health Problems
GDoLP Genome Database of Latvian Population
MoH Ministry of Health
CSPMP Compensation system for the purchase of medicinal products

I. Summary

The objective of the Public Health Policy Guidelines 2014-20201 (hereinafter - the Guidelines) is to increase the number of healthy life years of inhabitants of Latvia and to prevent premature death by preserving, improving and restoring health. To achieve this, two of the sub-objectives defined in the Guidelines provide for the following - to prevent inequality in the field of health by taking measures to ensure equal health care opportunities for inhabitants of Latvia, and reduce premature mortality from non-communicable diseases by reducing the negative impact of risk factors on health.

The Decision No 1295/1999/EC of the European Parliament and of the Council of 29 April 1999 laid down the a Programme of Community Action on Rare Diseases (hereinafter - the RD), including genetic diseases. This programme defines that the RD affects less than 5 per 10 000 persons in the EU. For the time being, the number of RD established in the EU is five to eight thousand, and 6 to 8 % of the inhabitants fall ill during their life. Although the spread of each individual rare disease is low, in total 27 to 36 million of the EU inhabitants suffer from them. Most of them suffer from such rare diseases which affect one per 100 000 persons or even less. Thus these persons are especially isolated and vulnerable. The RD should be viewed within the context of the health and social care, because falling ill with them changes the life quality of patients significantly by causing severe and chronic health disorders in the most of the cases. First symptoms of the illness may appear at any stage of human life from the birth to old-age.

On 8 June 2009 the EU Council Recommendation (hereinafter - the Council Recommendation) for the Members States on an action in the field of the RD2, including the RD definition, was approved. The Recommendation mainly focuses on the definition, codification and accounting, research of rare diseases, European reference networks, compilation of special knowledge on the EU level, participation and sustainability of patient organisations. According to the Recommendation each Member State had to, as soon as possible, but preferably by the end of 2013, elaborate and adopt a plan or strategy in the field of RD that would become part of the health and social care system.

In its turn, the Implementation report on the Commission Communication on Rare Diseases of 2014 and Council Recommendation of 8 June 2009 on an action in the field of rare diseases3 provides an overview of the implementation of the rare diseases strategy is presented, and looks at the achievements and lessons learned. The report has been prepared to establish the extent to which the measures referred to in the Council Recommendation4 have been introduced and to bring forward proposals for measures that should be implemented in the future.

In order to implement the EU Council Recommendation on an action in the field of the RD and make a uniform State policy, and also to ensure work co-ordination, the Ministry of Health approved the Plan in the Field of Rare Diseases 2013-2015 by Order No. 110 (20 June 2013) which included the action plan with laid down priorities and activities the implementation of which was planned and performed within the framework of the present budget.

The informative report On the Fulfilment of the Plan in the Field of Rare Diseases 2013-20155 (hereinafter - the report) concluded that although there is a possibility to carry out genetic testing in Latvia, in the most cases they are not within the range of the State paid services and patients may carry out them outside Latvia by receiving S2 form in the cases laid down in the laws and regulations, or for their private funds. Taking into account the costs of examinations to be carried out abroad and based on the cost-effectiveness consideration it is necessary to create the procedures that would give patients the possibility to carry out State paid examinations in Latvia and use the S2 form only in specific cases. Initially, it will require additional financial means, but in medium-term it could be more cost-effective and ensure availability of better genetic testing for patients.

In respect of drugs, within the period of previous Plan the National Health Service analysed the reimbursement of medicinal products for patients suffering from RD and concluded that the information acquired from the databases at the disposal of the institution does not permit clear identification of all the RD (syndromes) in the ICD-10 and the orphan number due to different use of the classification. Furthermore, the financing is not provided within the framework of one specific programme. When evaluating the possibilities for inclusion in the List of Reimbursable Medicinal Products, the same clinical and economical evaluation principles are applied to orphan medicinal products (the limit for the incremental cost-effectiveness ratio - EUR 41 000 for additionally acquired year of life or year of life without progression of the disease - equal for all medicinal products), and also the evaluation of the effect on the budget of the reimbursement system for the purchase of medicinal products is the same as for other medicinal products. Thus the issue on the access to drugs by the RD patients in conformity with their diagnosis and severity level of the disease has not been solved and is current for the time being.

In order to plan the budget funds in the long-term, the information on the spread of the RD in the country and the number of patients of the respective diagnosis is significant. The report indicates that the amount of information included in the Register of Patients who are Ill with Certain Diseases6 in respect of the rare diseases does not reflect the actual number of patients because the information is not entered therein on regular basis. Therefore it is necessary to seek for a solution which would ensure that the acquired statistical data are credible and usable for the planning of health budget.

By taking into account that laid down in the Council Recommendation, and also to facilitate the achievement of the sub-objectives laid down in the Guidelines, the Ministry of Health has developed the short-term policy planning document Plan in the Field of Rare Diseases 2017-2020 (hereinafter - the Plan) which continues the activities commenced in the previous RD plan for 2013-2015 by concurrently providing for additional funds for the implementation of the activities included in the Plan.

The Plan has been developed in co-operation with the involved public administration authorities - the CDPC, the NHS, NGO - the Latvian Alliance for Rare Diseases, the Latvian Association of the Specialists of Rare Diseases, the Latvian Association for Human Medicinal Genetics and professionals of the sector (BKUS, PSKUS, RAKUS, BMC).

Considering the present situation in the field of the RD, the priority tasks and measures to be taken within the laid down time period (2017-2020) are included in the Plan in order to improve early and timely diagnostics of the RD, treatment thereof and circulation of information on the RD, and they are intended to be implemented in conformity with the laid down time schedule, and also by taking into account both the necessary human resources, work capacity, and allocated financing for the achievement of the laid down objective.

II. Background

2.1. Early and Timely Diagnostics of RD

The RD affect relatively small number of patients however they seriously burden the health care system in the EU. Most of the RD are genetic diseases, the rest of them are rare cancer diseases, auto-immune diseases, congenital defects, toxic diseases and infectious diseases. There is a lack of a specially adapted health policy and special knowledge, therefore diagnostics is late and health care is difficult to access. An erroneous or non-existing diagnosis mostly denies the possibility to improve life quality to thousands of RD patients.

Congenital anomalies are the cause of death for more than the fourth of the children who died during their first year of life. Within the last years, no significant changes have been observed in infant mortality due to congenital anomalies (1.1 per 1 000 live births in 2015 to 0.9 in 2014). However, by analysing the indicator in a longer time period, it can be seen that it has decreased from 2.3 per 1 000 live births in 2009 to 1.1 in 2015.

Main causes for infant mortality in Latvia in 20157
(share of all causes, %)

 

This could be partly explained by timely performance of genetic tests, as a result of which it was possible to diagnose congenital pathologies and to terminate a pregnancy by reducing the risk of birth of seriously ill children, however in several cases a pathology is diagnosed late, the pregnancy is aborted after week 22, and these cases are included in the perinatal mortality rates. Still, the number of congenital anomalies is high which indicates that it is essential to improve the diagnostics of perinatal congenital anomalies that would allow to detect congenital pathologies more precisely, prepare for them or end a pregnancy in cases of such pathologies where severe lasting consequences are expected after prevention of the pathology. Special attention also needs to be paid to the period before conception, therefore the possibility to broaden genetic testing that would allow to identify the possible risk factors in a timely manner for both the parents-to-be and newborns should be considered.

Most of the congenital malformations (birth defects) and inborn errors of metabolism are separate pathologies and cannot be diagnosed by carrying out only the external examination of newborns, without using medicinal-genetic testing. Often a child is discharged from the maternity ward too early, and the diagnosis is established only after irreversible changes have occurred in the organism and appropriate treatment cannot provide the desirable result anymore. Timely diagnostics and commencement of treatment have a determinative role in the issue of survival or further development of a child. All abovementioned indicates to the significant role of genetic prenatal and postnatal diagnostics in the improvement of the population health and reduction in the mortality rate. Latvia has an average of 20 000 newborns per year, and on average 40 children are born with inborn errors of metabolism every year.

In respect of genetic testing the situation is similar. Although genetic testing is available in the laboratory of the BKUS, many of the tests provided in the Scientific Laboratory of the Rīga Stradiņš University (hereinafter - the RSU) and the BMC are not covered from the State budget resources. In conformity with that laid down in the Plan in the Field of Rare Diseases 2013-2015 approved by Order of the Ministry of Health No. 110 (20 June 2013), representatives of genetic associations compiled information on the DNA diagnostic methods that have approved technologies and the commencement of the performance of which would be desirable for the patients of the risk group, and which could restrict the prevalence of congenital diseases in the population by using invasive diagnostic methods in the early stages of pregnancy, or to commence the necessary therapy in a timely manner which, in turn, would provide for the possibility to reduce the disability risk. Part of them was included as new policy initiatives, however the State budget financing was not allocated to them. For example, the Latvian Association of Human Genetics has repeatedly addressed proposals to broaden the list of the State paid tests with DNA diagnostic for several diseases (see Table 1).

Table 1

Examination

Expected number of examinations per year (cases)

Treatment options

Haemophilia A DNA diagnostics

10

Factor VIII

Haemophilia B DNA diagnostics

5

Factor IX

Based on the information provided by the association, the incidence of Haemophilia A is 1 per 5 000 boys which means that on average 2-3 Haemophilia A patients are born in Latvia every year. Whereas the incidence of Haemophilia B is 1 per 25 000 boys which means that on average 1-2 Haemophilia B patients are born in Latvia every other year.

dF508 and del394TT mutations of cystic fibrosis CFTR gene

100

30

Antibacterial, mucolytic, physiotherapy etc.

Full sequencing of the cystic fibrosis CFTR gene

5

The incidence of cystic fibrosis is 1 per 3 300 children which means that on average 7 cystic fibrosis patients are born in Latvia every year. Mutation del394TT must be determined only when dF508 is negative in 30 % of the cases.

C282Y and H63D mutations of hereditary hemochromatosis HFE gene

20

Blood flush ensures complete recovery of a patient (treatment with drugs is not necessary).

Patients do not require liver biopsy for the diagnostics of the disease by carrying out the venosection (by flushing the blood on regular basis, may be a blood donor) - complete recovery is guaranteed. Therapy with drugs or liver transplantation is not required.

If the RD are caused by genetic changes, prenatal and postnatal examinations that are paid from the State budget resources can be carried out, for example, cytogenetic analysis (chromosome analysis with a standard method and cytogenetic or FISH method); biochemical genetic analysis: biochemical screening of pregnant women of increased risk for genetic pathology of foetus, mass neonatal screening for phenylketonuria and congenital hypothyroidism, selective screening of inborn errors of metabolism (analysis of amino acid spectrum, organic acid spectrum, oligosaccharides, mucopolysaccharides and qualitative carbohydrates); DNA diagnostics for spinal muscle atrophy, hereditary motor sensory polyneuropathy, long-chain and medium long-chain fatty acid oxidation defects, Huntington's chorea, fragile X chromosome syndrome. Additionally, in Latvia the diagnostics for CF hereditary hemochromatosis, Wilson's disease, Gilbert's syndrome, alpha-1 antitrypsin deficiency, some types of hereditary tumours, thrombophilias can be carried out within the framework of scientific research projects or laboratories of scientific institutions (at the moment polymorphisms of Gilbert's syndrome and hemochromatosis are tested by private laboratories in Latvia, but with a referral of the physician-specialist such tests are covered from the State budget resources). It is not always sufficient. For example, the Latvia Hemophilia Society indicates that genotype analysis of the disease should be offered to all patients with haemophilia of severe form and the results obtained must be used in order to identify gene carrier in their family.8

Despite the achievements in diagnostics of genetic diseases, the number of patients with unspecified genetic pathology who need additional testing abroad increases. Thus there is an increasingly frequent co-operation with foreign laboratories and clinics. Depending on the type of pathology, either the patients themselves or only their biological material is sent for consultations in foreign clinics and laboratories, and the potential number of patients for whom the referral for the specification of a diagnosis and treatment abroad would be necessary is comparatively large and has the tendency to increase.9

If any specific health care service is not available in Latvia which, in turn, is available in other EU Member State, European Economic Area state or Switzerland and this service is covered from the State budget resources in Latvia, a person may request S2 form "Confirmation of the right to planned treatment" (hereinafter - the S2 form). The S2 form is a document of a unified sample in all EU Member States. The S2 form is as a guarantee that the country which has issued the S2 form to a person will settle accounts with the EU Member State in which the particular necessary planned health care service will be provided for the person. The treatment will be provided under the same care and payment conditions as are applied to the inhabitants of the relevant country. This form is issued by the NHS.

Table 2

Number of issued S2 forms10
(during the time period 2006-2015)11

Year

Number of issued S2 forms

2015

215

2014

231

2013

191

2012

173

2011

143

2010

104

2009

122

2008

127

2007

110

2006

26

205 administrative cases were examined in 2015. Of these, a favourable decision has been taken in 196 administrative cases12. In these 196 administrative cases, 70 decisions have been taken by recognising the right of the person to receive health care services in Lithuania, 58 decisions - by recognising the right of the person to receive health care services in Germany and 41 decisions - to receive health care services in Estonia. As in the previous years, the health care service for the receipt of which in another Member State the largest number of favourable decisions has been taken is genetic analyses for children (50 favourable decisions have been taken in 2015). Based on the comparison of statistical data on the increase of the number of administrative cases in long-term (in a period of 5 years), it can be concluded that the number of administrative cases has increased by 36.67 % (by comparing the data of 2015 with the data of 2011).13 It cannot be concluded from the abovementioned in how many cases of the RD the S2 form is issued because this group of diseases is not distinguished separately. It can be only indirectly considered by examining the purpose for the issue of the S2 form.

Table 3

Planned health care services for the receipt of which in another Member State a favourable administrative act has been adopted and S2 form has been issued to a person14

Type of the health care service

Number of services

Genetic analyses (for children)

50

Hymerism analysis for a person after allogeneic stem cell transplantation

26

Eye surgery (brachytherapy of beta applicators, transplantation of cornea etc.)

22

Search of stem cell donor, allogeneic stem cell transplantation, in case of complications - donor lymphocyte infusion and treatment of complications

22

Monitoring and control of minimum residual disease (MRD) after PCR (polymerase chain reaction performed in actual time) in bone marrow aspirate for the person with indications for allogeneic stem cell transplantation

14

Physician consultation, where necessary, diagnostics

7

Care after transplantation

6

Extracorporeal photopheresis

5

Liver transplantation (for children)

4

Laser ablation of blood vessel anastomoses by performing the fetoscopy (for pregnant women)

3

Separation of primary spinal column tumour - neurofibroma - from spinal columns and mediastinum Where necessary - stabilisation of spinal column with implants from the front or back

2

It follows from the abovementioned that the number of the S2 form recipients is rather limited because in the case of the RD it is initially obvious that such examination method may not be available in the country, because such cases are few and covering from the State budget resources is to be evaluated additionally, especially in case of a limited State budget financing as it is in Latvia.

Upon evaluation of other possibilities for timely and early diagnostics, the previous contribution and future potential of the Genome Database of Latvian Population (hereinafter - the GDoLP), the RSU and BKUS in the field of the RD must be noted. Taking into account the significance of the RD diagnostics and the necessity to work on the discovery of new methods, the genome research has a significant role. The GDoLP creates and maintains the BMC, and the purpose of it is to establish the base for genetic material, and also other biologic material and information base in order to improve detection and treatment of different diseases (heart diseases, diabetes, cancer and many other), and also in order to promote prevention of many diseases. Until 2017, the GDoLP had accumulated samples of 31 504 inhabitants of Latvia , and it involves more than 2 000 new patients every year, but the information and genetic material is planned to be collected on 40 000-60 000 inhabitants of Latvia in order to study how the human health is affected by their genes in relation to the lifestyle and environment. The GDoLP is a national level project which intends to establish a system for surveying, maintaining and processing the health and genetic information of the inhabitants of Latvia, and this system shall serve for research, preventive and medical treatment purposes.15

The GDoLP provides the possibility to inform the health care organisers in Latvia of the number of ill persons or individuals subject to a disease the cause of which is changes in genome. Considering the abovementioned, at the national level the planning of the diagnostic, therapeutic and preventive measures for such diseases could be more efficient in the future. The DNA examinations carried out within the GDoLP projects allow to discover the mutations that are causing diseases not only after emerging of the disease, but also before setting in of the disease and also before the birth. As the DNA examination technology (simultaneous analysis of many genes for a large number of individuals and even finding out the individual genome code) and the knowledge level of the public in genetics increases, voluntarily DNA analysis of all individuals could become possible. This would allow to detect in timely manner those individuals who or offsprings of whom have a high risk of the emergence of a genetic (monogenic or multifactorial) disease, and also motivate to lead such lifestyle which would allow to avoid the illness. Thus it would be possible to commence treatment of the patient earlier, to prevent or limit manifestation of the symptoms of the disease by retaining the capacity for work of persons and saving the funds which would be necessary for treatment and social benefits. In turn, by establishing the relationship between persons genetic profile and response to various drugs, the most appropriate drug for each person can be selected, avoiding the side-effects thereof.

Since 2001, the Scientific Laboratory of Molecular Genetics of the RSU has, within the framework of different scientific projects, determined the most frequent genetic causes in the case of Wilson's disease, cystic fibrosis, alpha-1 antitrypsin deficiency and other monogenic pathologies. In the case of the abovementioned pathologies, genetic analyses of family members are also significant in order to carry out the DNA analysis while still in the pre-symptomatic period when other examinations cannot be carried out and, for example, in the case of Wilson's disease, giving the possibility to commence treatment before a liver damage has developed. As a result of the studies conducted by the Scientific Laboratory of Molecular Genetics of the RSU the most common genetic variations that are causing certain monogenic pathologies in the population of Latvia have been established, thus creating a DNA diagnostics algorithm that is suitable for the population of Latvia in the case of Wilson's disease and cystic fibrosis, and by continuing studies the DNA diagnostics algorithms are also being developed in cases of other diseases.

In its turn, BKUS as one of the first providers of diagnostics of genetic diseases carries out molecular diagnostics of Huntington's chorea, mutation analysis in GJB2 gene and K329E mutation of medium-chain acyl-CoA dehydrogenase gene, molecular diagnostics of fragile X chromosome syndrome, molecular diagnostics of Charcot-Marie and hereditary compression neuropathies, quantitative detection of MLL/AF4 chimeric gene transcripts, quantitative detection of BCR/ABL chimeric gene transcripts, detection of SNRPN gene methylation status, and also detects SMA gene deletion, 1528G>C mutations of long-chain 3-hydroxyacyl-CoA dehydrogenase, mutations of phenylalanine hydroxylase, dystrophin gene deletion, micro-deletion of Y chromosome, MECP2 gene mutation, RYR1 gene mutation.

In relation to the RD health care the need to create data "collections" of the RD patient biological material and related clinical data, promoting the development of genetic tests and research of these diseases and improvement of the treatment thereof has been already confirmed. It provides the possibility to perform investigation quickly and to find out genetic causes of inheritance in the cases when the existing diagnostic tests are unable to clarify it. It is especially important to co-operate with similar bodies abroad to such aspect in order to ensure the necessary number of samples for researches. The availability of samples in biobank provides for the possibility to additionally carry out genetic and biochemical examinations for each patient if additional factors affecting the disease have been detected.

Therefore the GDoLP with an already created system for the processing of biological material and related data which includes both the infrastructure and standardisation system of the laboratory procedures is ready to create also the collection of the RD samples. Accumulation and creation of such resources is essential as due to rare incidence any biological sample obtained and related information are especially valuable. By accumulating material in a long-term a unified resource would be created for the development of the RD diagnostics and treatment therapies in the future. Concurrently, the participation of the GDoLP in the Biobanking and BioMolecular Resources Research Infrastructure - European Research Infrastructure Consortium (BBMRI-ERIC) which enables exchange of the resources between biocollections of other countries to the Consortium and would provide the possibility for Latvia in the case of necessity for both to obtain the samples of the RD patients and data from other countries and to participate with them in research projects that would promote the RD research and development of therapies in the world context.

Within the framework of research, one of the fields in which the GDoLP is operating is acquisition of the molecular diagnostics methods intended for the prognosis and selection of therapy for hereditary diseases, research of demand and cost-efficiency in Latvia. In co-operation with physicians-specialists, the relevant pathologies are selected, genome regions to be analysed or objectives of the examination are identified, and the amount of patients to be analysed and inclusion criteria are determined Based on the referrals by physicians-specialists the relevant molecular examinations are carried out, results of examinations are analysed by finding out their efficiency and potential impact on therapy, and also by accumulating the data on results and costs of the therapy in long-term. Approbation of molecular diagnostic for several pathologies has been carried out in the previous years, for example comparative genome hybridisation for the detection of large duplications or deletions of genetic material, development of diagnostics panel for muscular dystrophies, full sequencing of genes causing hypercholesterinemy, the method for determining gene mutations which helps to evaluate the efficiency of chemotherapy prognostically for the needs of onco-hematologists, and also other examinations.

The problems to be addressed:

1) by taking into account that 80 % of the RD are congenital and hereditary diseases which do not have specific preventive measures, it would be necessary to find the possibility to ensure genetic testing for the persons who are planning pregnancy, for both parents-to-be in the anamnesis of whom there is any of genetic diseases, or substantiated suspicions for the presence thereof;

2) the availability of genetic testing shall be ensured not only for children but also adult patients with relevant indications that would allow to detect illness in a timely manner, to commence treatment, that in turn would reduce the disability risk (it refers also to the indications for granting the S2 or E112 form for adult patients);

3) in order to improve the quality of RD diagnostics, it is necessary to commence the DNA diagnostics for the most common pathologies in Latvia by supplementing the list of the State paid DNA diagnostic tests with the most common diseases of the North European and East European populations for which the DNA diagnostics has impact on the course of treatment, prognosis or development;

4) based on the European experience, the research results and resources of the GDoLP should be used more actively in the prediction of diseases, planning of health care services and diagnostics of diseases;

5) a registry of the RD patient biological material and related clinical data should be created by involving the existing infrastructures (within the framework of the GDoLP) for research and genetic testing approbation purposes.

2.2. Timely Treatment and Health Care Co-ordination Oriented to the RD Patient

The EU has adopted Regulation on orphan medicinal products (Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products)16 the purpose of which is to facilitate to develop orphan medicinal products. The centralised procedure for the determination of orphan medicinal products is laid down therein, and also incentives for the research, placing on the market and improvement of orphan medicinal products (for example, market exclusivity of 10 years, aid in accordance with protocol, access to the centralised procedure for obtaining the marketing authorisation) by which it is intended to facilitate research, development and marketing of such medicinal products with which rare diseases may be treated, prevented or diagnosed. Since January 2014 the EC has recognised more than 90 orphan medicinal products. It is important that the EC has recognised more than 1 000 products as orphan medicinal products17. Financers who develop these products use these reliefs. They should such as to relieve both the improvement of innovative medicinal products and coming into the market of the medicinal products similar by essence and recognition thereof for patients. During the last years the number of denominations of medicinal products has increased, in turn the number of authorisations has not changed significantly (7 authorisations have been granted in 2013, in turn in 2012 - 10). Concurrently it must be indicated that in spite of different incentives the permitted orphan medicinal products are not available in all EU Member States, and all patients in all EU Member States do not have equal possibilities to receive such medicinal products. Moreover their availability is significantly delayed due to the lack of the financing. Although decisions on the price and reimbursement are within the competence of the countries, the Member States are facing significant joint difficulties to ensure affordable, in terms of costs, and sustainable access to medicinal products.18

As indicated in the draft Council Conclusions19 on strengthening the balance in the pharmaceutical systems in the EU and its Member States, the legislation promoting the development of orphan medicinal products, paediatric medicinal products and advanced therapy medicinal products and granting marketing authorisations, and also intending such reliefs for manufacturers as supplementary protection certificates, data exclusivity or market exclusivity, is in force for the time being. The draft conclusions highlight that these reliefs need to be proportionate to the goal of encouraging innovation development, improving patients' access to innovative medicinal products with therapeutic added value and budgetary impact. Creation of such circumstances which might hinder the emergence of new or generic medicinal products in the market and in this way limit patients' access to new medicinal products should be avoided.

The EU Council indicates with concerns that after putting the medicinal products on the market non-conformity with certain requirements among the marketing authorisation holders is observed which may cause the situation when the data of independent researches and information from the patient registers are not structured, compiled and made accessible to performers of researches on efficiency and safety of medicinal products. And also in several Member States the number of the cases when access of a patient to efficient medicinal products is restricted by high and non-permanent prices of medicinal products, taking out medicinal products from turnover or non-putting new medicinal products on the national market due to economic considerations. Some Member States may be not sufficiently strong in individual negotiations with pharmacy industry. Fragmentary granting of marketing authorisations for new medicinal products, for example for one medicinal product for small groups of patients or for one active substance for the treatment of several rare diseases promotes increase in prices of medicinal products. The abovementioned problems should be referred not only to medicinal products but also to medicinal devices. Besides, special attention must be paid to the access to medicinal products by patients in small Member States.

Data on the number of positive decisions taken by the COMP and the number of medicinal products registered centrally with the EMA indicate that during the first years of operation (2000-2010) 850 positive decision have been taken by the COMP, but the EMA has registered 65 medicinal products for the treatment of the RD during this period of time. 93 medicinal products for the treatment of the RD have been registered by the centralised registration procedures until 2016 of which 20 medicinal products have been distributed in the market of medicinal products of Latvia for EUR 2.5 million in total (the abovementioned medicinal products have been covered within the framework of the CSPMP, individual reimbursement and within the programme for the treatment of rare diseases for children). The fact that almost EUR 17 million have been used in total from the State budget in 2016, but EUR 2.5 million of them have been used for the payment of the medicinal products especially intended for the treatment of the RD, substantiates that parallels may not be drawn between the division of the RD and patient needs and development and approval of the medicinal products to which the status of the medicinal products intended for the treatment of the RD is granted.

In Latvia the compensation system for the purchase of medicinal products (hereinafter - the CSPMP) ensures the possibility for the patients to receive medicinal products and medicinal devices that are necessary for the treatment of certain diseases the purchase of which, fully or partly, is covered by the State. Diseases for the treatment of which expenses for the purchase of the medicinal products and medical devices are reimbursed are laid down in the list of diagnosis of the diseases which is the integral part of the compensation system for the medicinal products. For the time being the medicinal products for 38 diagnoses of rare diseases are ensured within the framework of the CSPMP. The medicinal products for the RD are included in the list of reimbursable medicinal products which belong to the group of the diseases of the blood and blood-forming organs and disorders involving the immune mechanism, diseases of the skin and subcutaneous, tumours, diseases of the respiratory system, endocrine, nutritional and metabolic diseases, diseases of the musculoskeletal system and connective tissue, congenital diseases, mental and behavioural disorders. In 2016 the treatment within the framework of the CSPMP was received by 5 100 unique patients with rare diseases by using EUR 13.8 million from the State budget. The largest financial means were used for the treatment of haemophilia, juvenile arthritis, multiple sclerosis, Turner syndrome and diseases related to changes in the production of growth hormone (acromegaly, hypopituitarism). If diagnosis is not included in the list or the necessary drug is not in the list of reimbursable drugs for the treatment of a particular diseases, patients may ask the State aid for the purchase of the medicinal product in accordance with individual procedure. It shall be used by patients with complications in the course of the disease, and also by patients for whom rare diseases have been diagnosed. In 2016 the medicinal products have been reimbursed individually for the following rare diagnoses or groups of diagnoses:

Diagnosis

Code of diagnosis

Unique patients

Financing, euro

Disorders of copper metabolism

E83.0

39

11 025

Systemic connective tissue disorders

M30-M35

5

26 516

Multiple sclerosis

G35

7

53 560

Epilepsy, rare form

G40

28

40 395

Diseases of the blood and blood-forming organs and disorders involving the immune mechanism

D35.2; D61; D69, D82-84

28

232 811

Pulmonary hypertension

I27

171

1 385 260

Carcinoid tumour/carcinoid syndrome

C16-C80, D13

34

333 358

Juvenile arthritis

M08

1

5 178

Congenital diseases

Q05; Q24; Q44; Q55; Q78

16

7 814

Total

 

186

1 182 939

Patients must often use drugs the expenses of which exceed the limits for individual reimbursement laid down by the State for several times - in the amount of EUR 14 228.72 for one patient during a period of 12 months. The abovementioned limit for reimbursement precludes part of the patients from purchasing the necessary drugs, it promotes inequality in the accessibility of medicinal products and may lead to early mortality from rare diseases among adult patients. Considering the abovementioned, the Public Health Policy Guidelines 2014-2020 identified that in order to reduce the cases of early death and disability of inhabitants as a result of rare diseases and to ensure accessibility of medicinal products to adult patients with rare diseases by increasing the amount of the funds in the State budget intended for the reimbursement of medicinal products, the system for the compensation of medicinal products needs to be reviewed:

1) by expanding the list of those diagnoses for which drugs are compensated by the State with rare diseases diagnosed in Latvia;

2) by expanding the list of reimbursable drugs with new drugs including with drugs for the treatment of the RD;

3) by gradually increasing the amount if individual reimbursement laid down in the State for the treatment of rare, difficult and complicated diseases.20

Taking into account that medicinal products of the new generation are expensive and costs thereof are not always commensurate with the funding granted for the reimbursement of medicinal products, the possibilities for inclusion of new medicinal products in the system for the compensation of medicinal products are limited. In order to promote improvement of availability of new medicinal products, the development of the CSPMP was intended in the Public Health Policy Guidelines 2014-2020, including enlargement of the system for reimbursement of medicinal products with existing and new medicinal products by indicating the financing necessary for it in 2015 in the amount of EUR 4 280 000 and in 2016 in the amount of EUR 17 117 000, in 2017 in the amount of EUR 74 407 000. However, within the framework of the law On the State Budget for 2015 the funds in the amount of only EUR 2 536 431 have been granted for the Ministry of Health for 2015 and following years for the improvement of the system for reimbursable drugs and materials and the system for the treatment of the RD with drugs for children, including the funds in the amount of EUR 2 000 010 for covering reimbursable medicinal products and materials which have been directed for covering the deficit of funds lacking in the compensation system of expenses for the purchase of medicinal products not inclusion of new medicinal products in the compensation system for the medicinal products. Unfortunately, the development of the CSPMP laid down in the Public Health Policy Guidelines 2014-2020 will be possible only if the appropriate financing will be included in the law on the State budget.

In respect of the availability of drugs for children the sub-programme of the health care budget "Treatment of Rare Diseases with Drugs for Children" ensures coverage of the costs of the treatment with medicinal products for the children suffering from the RD who are registered with the BKUS by ensuring maintenance of important life functions. In 2015, EUR 1 990 076 were granted for this programme. 15 children with diagnoses received treatment with drugs. Gaucher disease, mucopolysaccharidosis type 1 and 2, urea cycle disorder disease, Lesch-Nyhan syndrome, homocystinuria, inherited IX factor deficit, phenylketonuria (classical form), Pompe disease, tuberous sclerosis, other demyelinating diseases of central nervous system, melanoma of scalp and neck21.

In turn, in order to improve availability of drugs to the RD patients after 18 years of age by amending Cabinet Regulation No. 1529 of 10 January 2015, Procedures for the Organisation and Financing of Health Care (hereinafter - Regulation No. 1529), the stipulation "If the treatment with drugs has been commenced for a child at the valsts sabiedrībā ar ierobežotu atbildību "Bērnu klīniskā universitātes slimnīca" [State limited liability company Childrenʼs Clinical University Hospital] from the funds of the budget sub-programme "Treatment of Rare Diseases with Drugs for Children" then it shall be continued after reaching 18 years of age until such necessity terminates in conformity with medical indications". However, it is necessary to plan for an increase in the funds granted to this programme in the long-term, because it should be taken into account that the dose of drugs necessary for children is calculated per weight, and it, in turn, means that by the growth of the child the costs of drugs will increase. There is an opinion that these costs may increase by 10 % per year on average. It must be taken into account that by improvement of diagnostics children with other diagnoses of rare diseases may be included in this programme (2-3 new patients per year on average) that could increase the total costs by 25-30 %.

In addition to the abovementioned, this programme should provide resources also for special therapeutic nutrition which is one of the determining factors during the treatment process in the case of the RD diseases and ensures the stability of metabolic condition of the patient and consecutive growth and psychomotor development of the child by minimising the risk of disability. Already now the laws and regulations22 determine the provisions for therapeutic nutrition for the patients with cow milk protein intolerance of severe degree and malabsorption syndrome of severe degree, palliative care patients and CF patients, but there is a range of metabolism, genetic and neurological disorders which need special enteral nutrition which is the part of both the therapy and also significant condition for maintaining the life. For example, for the treatment of refractory forms of epilepsy the so-called ketogenic diet with high content of fatty substances and low content of carbohydrates, and also normal amount of calories must be followed. In accordance with the data of the Association of Pediatric Neurologists, there could be five such patients per year. Costs per one patient would amount to EUR 500 per month.

The Public Health Policy Guidelines 2014-2020 lay down that the receipt of lung transplantation service should be ensured. At the moment, lung transplantation surgery is not a health care service that is paid from the State budget in Latvia, although there are patients who are suffering from diseases for which lung transplantation is required, for example, pulmonal arterial hypertension (hereinafter - the PAH) patients. The PAH can develop at any age, also with children, however most often it emerges among young women. In turn, mortality in the case of the PAH is as high as with different cancer forms, including breast and colorectal cancer. The most important examination (screening examination) in diagnostics of pulmonary hypertension is echocardiography which in the case of necessity is followed by heart sensing, after which, if necessary, the pathogenetic disease therapy is designated for the patient.

Complications in bronchopulmonary system irreversibly develop for the CF patients (at the moment, 42 patients). Most of them will need lung transplantation. Lung transplantation is carried out for young patients with a lung disease in a late stage (progressive obstructive, fibrotic or pulmonary vascular disease with high risk of mortality within the next 2-3 years) for whom classical and alternative treatment methods are inefficient, thus preventing deterioration of the health condition, capacity for work and setting in of disability for the patients, and improving their quality and duration of life. The Ministry of Health has repeatedly requested this measure and the additional State budget financing necessary for its implementation in the list of new policy initiatives for 2016-2018, and its implementation is dependent on the financial possibilities of the State budget.

To ensure qualitative care, a multi-disciplinary approach is significant in the care of the RD patients that would ensure the most suitable aid for each particular patient. Within its framework, an individual treatment, care and rehabilitation plan could be made for each patient, including the necessity for the receipt of new medicinal products and medicinal products for the treatment of rarely occurring diseases (orphan medicinal products) would be evaluated. In order to provide suitable aid to the RD patients, a specialist must invest more work to go deeper into the particular problem, and also to understand and recognise it as an exception by concurrently continuing to search for answers to unclear questions by sharing experience with other specialists. Such approach may extend the duration of a visit, and thus increase the fee for the service.

For the time being unified principles for the establishment of multi-disciplinary team cannot be developed as in each case of illness different health care specialists may need to be attracted. For example, in accordance with the agreement entered into on the provision of the State paid health care services, certain amount of financing is granted to the Palliative Care and CF room at the BKUS within the framework of which the medical treatment institution may attract the necessary specialists. In 2015, the health care services in the palliative care room were provided by a child care nurse, oncology care nurse, pediatrician, nurse, pediatric hematologist-oncologist, psychologist, neurologist, surgeon, oncologist-chemotherapist, assistant to physician and family (general practice) physician. Whereas, in 2015, the health care services in the CF room were provided by a pediatric gastro-enterologist, pediatric pneumonologist, pediatrician, child care nurse, dietologist, family (general practice) physician. However, the general procedures laid down in Regulation No 1529 also provide that a patient may be sent to other specialist in the case of necessity.

In conformity with that laid down in the Council Recommendation in the field of the RD, the Member States should, by the end of 2013, survey suitable national special knowledge centres in the territory of their country and promote establishment of special knowledge centres which would organise care of such patients who are suffering from rare diseases by ensuring the co-operation with the relevant experts and performing exchange of professionals and knowledge on the national level or in the case of necessity with other countries23.

It must be noted that access of the Member States to organising expert-examination centres in their health care systems has been very diverse. Some countries have officially selected expert-examination centres in the field of the RD (France, Denmark, Spain and United Kingdom). Regional expert-examination centres in the field of the RD have been established in Italy. Selection criteria in each country are different and sometimes they are not equal even within the framework of the regions of one country, although these criteria often comply with Quality Criteria for Centres of Expertise for Rare Diseases in Member States of 24 October 2011 developed in the field of rare diseases by the EU expert committee.24

Until now, involvement of medical treatment institution in the establishment of national level centres in the field of the RD has been based on the voluntary principle and additional financing has not been provided, thus in Latvia medical treatment institutions have not taken significant activities. The CF room which is functioning in BKUS since January 2014 must be mentioned as a positive example. A multi-disciplinary team (pediatric pulmonoligists, nutrition specialist, physiotherapist, psychologist, gastro-enterologist, the CF nurse) has been established for the care of the CF patients. Further education of medical staff takes place on regular basis, a pediatric pulmonologist - CF specialist has been trained. Within the framework of the State paid programme, treatment of both the children and adults is provided free of charge to the CF patients, and the range of administered drugs is being broadened as much as possible. Inhalers and therapeutic nutrition is available to the CF patients free of charge. During the last three years the BKUS has organised educational lectures on CF for the CF patients and their family members, and informative materials have been created and are available for the patients. The doctors' councils are organised for in-patients once a month.

In addition to the abovementioned, upon an increase in awareness of both patients and specialists, the BKUS has surveyed its possibilities on how to ensure appropriate flow of the RD patients and continuity of the health care, and has supported establishment of the RD centre (hereinafter - the Centre) as a co-ordination centre on the BKUS base by establishing support "units" in other clinical university hospitals (hereinafter - the CUH).

Establishment of such Centre would ensure centralised availability of information and treatment for patients, focused and efficient use of the existing resources for the RD diagnostics and possible treatment of patients, the co-operation with ERN (European Reference Network) for the treatment of the patients and improving qualification of the professionals of Latvia.25 At least one co-ordinator could operate in the Centre and other CUH for organising patient flows and attraction of specialists. In addition to the abovementioned all CUH must agree on the rare diseases or groups of diseases the treatment of which they can provide. Thus the competences between involved hospitals would be determined and the work of co-ordinators would be initially simplified by assessing the possibilities for the referral of the patient.

To ensure efficient and up-to-date patient care, one of the current problems is the improvement of medical treatment competences and skills in RD. Without experience and appropriate training it is not possible to detect diagnosis in a timely manner and commence the necessary therapy. In certain cases it may be decisive, causing irreversible changes in the health condition of the patient by accelerating the possibility for causing a disability. The CUH shall organise post-graduate training courses, seminars and conferences on regular basis for different health care specialists which contain also the RD. For example, within the framework of the Third Baltic Pediatric Congress (19-21 September 2015) in Riga, a separate section was devoted to the RD in which issues of mucopolysaccharidosis, Gaucher disease and Fabry disease, rare iron-deficiency anaemia, homocystinuria etc., including a presentation on the experience of Latvia in the health care of the CF patients has been provided.

Significant educational work in the field of the RD has been carried out also by the Latvian Association of the Specialists of Rare Diseases. On 1 October 2016 the First Rare Disease Conference of Latvia took place in co-operation with the Department of Internal Diseases of the RSU and Rare Disease Research Foundation within the framework of which general knowledge on rare diseases and possibilities for diagnostics and treatment thereof in Latvia, and also the information on the rare diseases diagnosed and treated for patients in Latvia - pulmonary hypertension, Fabry disease, Wilson's disease, Idiopathic pulmonary fibrosis, Primary amyloidosis and Porphyria, was provided. In turn, on 22 April 2017 the Second Rare Disease Conference of Latvia was organised with a goal to provide theoretical and practical knowledge on rare diseases, diagnostics and treatment possibilities thereof for both the present specialists and future specialists.

In addition to that, medical practitioners have a possibility to take part in annual "summer schools" which are organised by the specialists of the RD centre of Italy. In this training particular RDs are not discussed, but the participants are informed of the joint European approach to addressing RD issues - their accounting, coding, development of guidelines, and also organisation of the health care availability for such patients, including ensuring the continuity of the health care for young people when they are transferring to adult health care.

Problems to be Addressed:

1) in co-operation with specialists it is necessary to determine the RD or groups of diseases for which therapy is available and adequate treatment needs to be provided in order to carry out assessment of possible reimbursement for medicinal products and/or therapeutic nutrition;

2) in order to retain the present approach and CDPMP for more occurring diseases, it would be purposeful to establish a separate programme for treatment with drugs for adult patients with a separate independent financing as it is in the case of programme "Treatment of Rare Diseases with Drugs for Children" of the BKUS;

3) it is necessary to introduce regular evaluation of clinical efficiency of the drugs prescribed to RD patients based on predetermined criteria which would provide the possibility for the doctors' council to decide on continuing the commenced therapy or necessity to change it;

4) clear and explicit criteria must be developed for the inclusion of children with RD in the programme "Treatment of Rare Diseases with Drugs for Children" and exclusion therefrom, and also additional financial means must be provided for in the State budget for the optimal functioning of this programme;

5) clear and explicit criteria must be developed for the inclusion of adults with RD in the programme for the treatment of the RD and exclusion therefrom,

6) coverage of the therapeutic nutrition should be provided from the State budget resources to all those RD patients for whom it is the only means of nutrition and which may not be replaced by another nutrition;

7) by taking into account that mutual co-operation of specialists (family physicians, gynaecologists, paediatricians, endocrinologists, internists, cardiologists, pulmonologists and other specialists) and their knowledge are essential for the recognition of the RD recommendations for both the prophylactic measures and recognition, diagnostics and treatment of the RD need to be developed;

8) knowledge of medicinal practitioners regarding the recognition of the RD must be broaden and strengthened by organising clinical conferences with case studies and exchange of experience, seminars, further education courses by involving the specialists of different profile, including geneticians;

9) the flow of the RD patients must be improved especially by ensuring the transfer of patients to adult health care by strengthening the work of the RD Centre and special "units" in CUH.

2.3. Improvement of the Circulation of Information regarding the RD

Council Recommendation on an action in the field of rare diseases26 lays down that it should be tried to ensure that the RD are appropriately codified and can be found in all health protection information systems, thus promoting that the disease is duly recognised in the health care systems and compensation systems for the purchase of medicinal products on the basis of the International Classification of Diseases and in compliance with the national procedures.27

At the moment, all the Member States use the International Classification of Disease ICD-9 or ICD-10 systems in which the most part of the RD is not mentioned. Some Member States (including Latvia) have introduced ORPHA codes (RD codification system which is developed by the Orphanet network28) in their systems of the health statistics concurrently with the IDC nomenclature or as a pilot project. In order to compile and publish information on the RD, the Commission supported Orphanet Joint Action29 through the EU Health Programme by involving all the Member States as associated or co-operation partners. Orphanet is a database that is available in seven languages and has been established with a view to link information on more than 6000 diseases. Besides each country has its own section in the language of the relevant country in the Orphanet portal.30

Additionally it must be taken into account the Joint Research Centre of the EC, in order to ensure mutual use, comparison and combability of the present 588 RD registers (62 European, 35 worldwide, 423 national, 65 regional and 3 non-specified registers), is developing the European platform for the registration of the RD, the most important tasks of which is to ensure the main point of access where all interested parties could receive information on the registers of the RD patients, to support new and existing registers by taking into account their mutual use, and to ensure IT tools for the maintenance of the data compilation and operations of supervisory networks.31. In the future it could ensure entry of all data online, and also the information not only on each Member State, but also on the EU in general in the field of the RD.

Taking into account that at the moment in Latvia the RD patients are not accounted in a comprehensive and correct manner, it is impossible to effectively compile information on the RD. Such information would allow to plan the necessary State aid for the diagnostics of the RD patients, their treatment, care and rehabilitation. The lack of accounting not only hinders the commencement and direction of purposeful and planned actions, but also prevents the identification and addressing of the existing problems by not allowing to make an objective assessment of their scope and the level of severity.32

Procedures for supplementing and keeping the registers of patients who are ill with certain diseases are determined by Cabinet Regulation No. 746 of 15 September 2008, Procedures for Developing, Supplementing and Maintaining Register of Patients who are Ill with Certain Diseases (hereinafter - Regulation No. 746). The manager and holder of the registers is the Centre for Disease Prevention and Control (hereinafter - the CDPC) which ensures operation of the registers and enters into agreements with medical treatment institutions on personal data processing and protection.

Unfortunately, the information included in the register at the moment does not reflect the actual number of patients, as the information is not entered on regular basis. Although the procedures for the provision of the information on the cases of certain diseases to the CDPC in order for the necessary data to be included in the registers are laid down in laws and regulations, the accounting of the RD is being carried out based on the internal resources of each medical treatment institution. Data entry is also affected by the fact that the patients of the CUH receive health care services from different specialist at different medical treatment institutions, thus one person who would be responsible for the data entry has not been determined. Moreover, physicians are not motivated to fill out registration cards of the patients who are ill with certain diseases due to large workload.

In discussions with specialists of this field and representatives of the CDPC, the possibility to gradually establish the RD register on the base of the Register of Congenital Diseases. By Cabinet Regulation No. 206 of 22 April 2014, Amendments to Cabinet Regulation No. 746 of 15 September 2008, Procedures for Developing, Supplementing and Maintaining Register of Patients who are Ill with Certain Diseases, the amendments to the Register of Patients who are Ill with Certain Diseases have been approved by providing that the oncological patient's registration card and registration card for a patient with congenital anomalies is being supplemented with the information on the RD code and name in conformity with the RD classification on Orphanet. Thus medical practitioners of CUH, being under contractual relations with the CDPC, have the possibility to enter the information on diagnosed RD online. Already now, in registering new cases of congenital anomalies, the possibility to apply orhpa code is evaluated - if the detected diagnose complies with the RD, the specialist (genetician) assigns the appropriate orpha code. 1240 unique entries have been registered in total until 14 June 2017 for which any of the RD has been indicated (see Table No. 4).

Table 4

Number of cases registered in the Register of Congenital Anomalies from 2011 to 201733

Year of birth

Number of unique entries

Number of diagnoses

including

Number of diagnoses with RD code (Orpha code)

Number of unique entries with RD code (Orpha code)

In total until 2010

-

-

653

639

2011

537

745

56

56

2012

509

744

70

68

2013

515

829

80

80

2014

529

881

108

108

2015

436

590

109

106

2016

308

514

141

139

2017

72

109

46

44

In conformity with the data of the Register of Congenital Anomalies (where the RD are also registered) 324 rare diseases in total have been registered as of 14.06.2017 (Orpha codes) for 1 108 patients of which 241 are adults (year of the birth up to 1998) and 867 children (year of the birth 1999-2017). Of which the most often Orpha diagnoses for children (where 15 and more cases have been registered) are phenylketonuria (40), haemophilia A (32), polydactyly (52), CF (29), Duchenne-Becker Muscular Dystrophy (24), congenital hydronephrosis (27), congenital ptosis (27), congenital cataract of different localisation (60), juvenile rheumatoid arthritis (16), hypospadia (16). In turn, in respect of adults (for whom 15 and more cases have been registered) - phenylketonuria (42), haemophilia A (27), Wilson's (3) and Fabry (17) diseases.

By developing and gradually introducing the Electronic Information System of the Health Care the existing information systems are included in the unified platform - the system for the registration of patients who are ill with certain diseases PREDA, NHS management information system which would allow to connect the information included in different databases and to track the RD patient according to both the received health care services and prescribed drugs and efficiency thereof. In turn, by gradual increasing the level of the knowledge of physicians-specialists and linking the ICD-10 code to orpha code the number of the RD patients and prevalence of diseases could be tracked systematically.

In addition to the abovementioned, RD-Connect which is the EU financed integration platform for joining the databases, registers, biobanks and clinical bioinformatics in the field of rare diseases34 organises practical seminars for civil servants, specialists and patient organisations in order to promote modern use of IT-solutions in the health data processing. In 2016, the Latvia Hemophilia Society which now develops a separate patient register for persons with congenital blood coagulation disorders participated in such seminar at its own expense.

In order to promote dissemination of knowledge and information, the website devoted to the RD - Orphanet, , the multilingual portal, has been established within the framework of the EC projects where the information on more than 5000 RD and medicinal products for the treatment thereof, newest epidemiological data, studies on the spread of the RD in Europe is available free of charge. The following services are available on the portal:

- RD and RD classification which is developed based on the published expert classifications;

- RD encyclopaedia (for patients, professionals) in English and French which gradually is being translated in other languages of the Member States;

- the list of orphan medicinal products in all stages of the development thereof starting from granting of the status of the EMA orphan medicinal product until obtaining the licence for the European market;

- the list of specialised services which include information on expert-examination centres, medicinal laboratories, research projects, clinical researches, registers, co-operation networks, technology platforms and patient organisations which operate in the field of the RD in each Member State of Orphanet ;

- support instrument for the determination of a diagnosis which ensures search according to symptoms and features of the disease;

- encyclopedia of recommendations and guidelines for emergency medical assistance and anesthesia;

- news issue OrphaNews (published once in two months) which provides a summary on current events in the field of the research and policy of the RD and orphan medicinal products in English and French language;

- a collection of topical reports The Orphanet Reports Serieswhere multidisciplinary themes are discussed and which can be downloaded directly from the website35.

In conformity with the delegation of the Ministry of Health the CDPC ensured the co-ordination of the Joint Action project No 2010 22 06 "Establishment of the European Network for Rare Diseases and Orphan Medicinal Products" and management thereof in Latvia. The Latvian part of Orphanet portal has been established within the framework of the project where the CDPC in co-operation with the Ministry of Health, patient organisations and other bodies updates and publishes information in Latvian on regular basis regarding the measures and current events in the field of the RD. A new section has been established in the portal with useful information for patients, their relatives and medical practitioners. Three informative booklets are available on this Section (diagnostics and care of spinal muscle atrophy (SMA) patients; information for families on medical care for congenital muscular dystrophy (CMD); recommendations for parents on diagnostics and care of Duchenne muscular dystrophy (DMD)), animation of the RD - porphyria symptoms, and also the recommendations for primary prophylaxis of congenital anomalies have been published.

In order to continue the commenced activities, the CDPC has involved itself as the associated partner in the implementation of the grant No. 677024 of the project of a third Programme of the EC for the Union's action in the field of health (2014-2020 "Promoting Implementation of Recommendations on Policy, Information and Data for Rare Diseases" (hereinafter - the Project RD-ACTION). Period for the implementation of the project is 1 June 2015 - 31 May 2018. The CDPC operates in the implementation of the 4th work package. A participation in the joint action project will ensure participation in the international network Orphanet on the RD and orphan medicinal products that would allow to use the infrastructure and resources of the network Orphanet by ensuring the public of Latvia (patients and specialists) with information on the RD because the section of current events in the field of the RD will be maintained and supplemented in the Latvian language on the portal Orphanet. Being aware that within the framework of the network Orphanet exchange of information is ensured on the international level, the information on the expert-examination centres recognised in Latvia in the field of the RD, specialists thereof, patient organisations and laboratories which carry out specific examinations will be updated on the databases of the Orphanet within the framework of the project.

In considering the free flow of patients, the issue on recognisability of the RD patients is topical, especially, if the patient lives outside Riga and travels within Latvia and outside Latvia, and if special knowledge is necessary for the treatment of the particular RD or even urgent action is required when the disease aggravates or there are complications. For ten years now, upon such request, the Latvia Hemophilia Society provides patients and medical institutions with Hemophilia Patient ID cards, which include information about patients, their diagnosis, severity of disease, drugs used for the treatment, as well as contact details of medical treatment institutions for cases when urgent action is necessary, but there is lack of required skills and knowledge. Information is presented in both Latvian and English which facilitates the travelling possibilities of a patient.

Certainly such card could simplify receipt of a health care service by the RD patient, especially, if the patient is outside his or her place of residence or is travelling, and if the RD from which he or she suffers is characterised by specific aid of drugs in case the disease aggravates or other emergencies occur. Its introduction could be commenced gradually and, possibly, also voluntarily, by taking into account that the RD patient card would contain sensitive patient data.

The experience of health care specialists of Portugal must be mentioned as a positive example in the introduction of the RD patient card. Before such card is issued a patient's consent is received for access to his or her medical data. In the example of Portugal, the information on the patient, attending physician and orpha code of the disease are provided on the card. In turn, the recommendation in the case of aggravation of the disease , and also a contact telephone number which may be used in the cases of uncertainties or emergency are indicated on the other side of the card.36

Problems to be Addressed:

1) the accounting (registration) of the RD laid down in laws and regulations must be ensured;

2) to increase knowledge of both the public and medical practitioners on Orphanet database and the possibilities for using the information included therein;

3) to increase and strengthen knowledge on the recognition of rare diseases among medical practitioners regardless of their speciality and medical treatment institution where a specialist works (including at the places of imprisonment);

4) irrespective of advantages of e-health in the traceability of patients, the possibility to issue approved patient cards in common form, either by centralised procedure or authorising patient organisations, must be evaluated for those patients of rare diseases who have expressed the will to obtain such.

IV. Assessment of the Impact on the State and Local Government Budget
(allocation of the financing is provided in annex)

In order to implement the measures referred to in the Plan and improve early and timely diagnostics and treatment of the RD and the circulation of information on the RD, additional State budget financing in the amount of EUR 66 866 490 is necessary for the implementation of the Plan; the following amounts of this sum are required each year: in 2018 - EUR 5 028 474, in 2019 - EUR 31 357 099, in 2020 - EUR 30 480 917, and every subsequent year additional financing in the amount of EUR 30 499 917 is necessary.

For early and timely diagnostics the additional financing of EUR 1 846 549 (for 2018-2020) is necessary in order to improve the availability of the RD diagnostics and broaden the range of examinations covered from the State budget funds (for prenatal and postnatal diagnostics, biochemical screening methods of metabolic diseases).

The additional financing in the amount of EUR 64 798 036 (for 2018-2020) is necessary for the RD patient oriented timely treatment and health care co-ordination. EUR 7 631 589 of this sum are intended for the establishment of a special programme for the treatment of adult RD with drugs that would have separate financing which would allow to response more flexibly to the needs of the RD patients by including new medicinal products therein and to track the results of therapy and analyse them, the improvement of the operation of the programme "Treatment of Rare Diseases with Drugs for Children" EUR 55 245 389, for ensuring research of medicinal products for the RD patients by transfer from paediatric care (18 years) to adult care EUR 180 000. In turn, EUR 1 024 000 are necessary in order to include lung transplantation and pulmonary endarterectomy in the health care services covered by the State by reviewing the tariffs of care episodes and manipulations included in the health care service and the procedures for the coverage of reimbursable medicinal products. In order to determine the specialists included in the multi-disciplinary team and the amount of health care service provided by the, and also the procedures for the payment thereof EUR 116 702 EUR 532 836 of the total financing for the activity are necessary in order to strengthen the co-ordination of the RD patient flow by establishing the RD centre with the BKUS and co-ordination support "units" with the PKUS and RAKUS and EUR 67 520 for the provision of the methodological management of the RD by developing the recommendations for the RD diagnostics, treatment and dynamic observation (clinical algorithms and RD patient "roadmaps").

Additional EUR 221 905 (for 2018-2020) are planned for the improvement of information circulation on the RD in order to create the RD patient card and linking thereof with EHIC to be issued for the time being.

The Plan provides also the measures which will be implemented within the framework of the State budget resources allocated to the involved authorities for the implementation of the measures (tasks) within the competence thereof.


1 Public Health Policy Guidelines 2014-2020;

2 Council Recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02)

3 COM(2014) 548

4 Council Recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02)

5 http://www.vm.gov.lv/lv/tava_veseliba/retas_slimibas1/

6 https://likumi.lv/ta/en/en/id/181288-procedures-for-developing-supplementing-and-maintaining-register-of-patients-who-are-ill-with-certain-diseases

7 Database of causes of death of the inhabitants of Latvia

8 http://static.ehc.eu/wp-content/uploads/12-Recommendations-Wild-Bad-Kreuth-IV-initiative.pdf

9 Plan in the Field of Rare Diseases 2013-2015

10 The number of issued S2 forms does not match with the number of the examined administrative cases due to the fact that two or more S2 forms may be issued within the framework of one administrative case (for example, the right to receive several different health care services may be granted within the framework of one administrative case).

11 http://www.vmnvd.gov.lv/lv/publikacijas/vestis

12 During the time period from 23 October 2013 to 31 December 2013 - 1 submission was received, during the time period from 1 January 2014 to 31 December 2014 - 9 submissions were received, during the time period from 1 January 2015 to 31 December 2016 - 28 submissions were received.

13 http://www.vmnvd.gov.lv/lv/publikacijas/vestis

14 http://www.vmnvd.gov.lv/lv/publikacijas/vestis

15 http://bmc.biomed.lu.lv/gene/KASirgenomadatubaze.htm

16 http://eur-lex.europa.eu

17 http://ec.europa.eu/health/human-use/orphan-medicines/index_en.htm

18 COM(2014) 548

19 Council of the EU. Council Conclusions on strengthening the balance in the pharmaceutical systems in the EU and its Member States, June 2016- http://www.consilium.europa.eu/en/press/press-releases/2016/06/17-epsco-conclusions-balance-pharmaceutical-system

20 Public Health Policy Guidelines 2014-2020;

21 http://www.vmnvd.gov.lv/lv/publikacijas/vestis

22 Cabinet Regulation No. 1529 of 17 December 2013, Procedures for the Organisation and Financing of Health Care

23 Council Recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02)

24 http://www.eucerd.eu/?page_id=13

25 The information provided by the BKUS

26 Council Recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02)

27 2009/C 151/02

28 http://www.orpha.net

29 http://ec.europa.eu/eahc/projects/database.html?prjno=20102206

30 COM(2014) 548

31 COM(2014) 548

32 Plan in the Field of Rare Diseases 2013-2015

33 Information from the Register of Congenital Anomalies held by the CDPC (the information of live births and medicinal abortions has been included, data as of 16.06.2017). When necessary, the information regarding the newly discovered cases is updated, and also entry of the data for 2016-2017 is being continued.

34 http://rd-connect.eu/

35 http://www.orpha.net/national/LV-LV/index/par-orphanet/

36 http://www.sciencedirect.com/science/article/pii/S1877050915027283

Minister for Health Anda Čakša

 


Translation © 2018 Valsts valodas centrs (State Language Centre)

 
Document information
Status:
In force
in force
Issuer: Cabinet of Ministers Type: order Document number: 602Adoption: 23.10.2017.Entry into force: 23.10.2017.Publication: Latvijas Vēstnesis, 212, 25.10.2017. OP number: 2017/212.6
Language:
Related documents
  • Annotation / draft legal act
  • Other related documents
294448
23.10.2017
85
0
  • Twitter
  • Facebook
  • Draugiem.lv
 
0
Latvijas Vestnesis, the official publisher
ensures legislative acts systematization
function on this site.
All Likumi.lv content is intended for information purposes.
About Likumi.lv
News archive
Useful links
Contacts
For feedback
Terms of service
Privacy policy
Cookies
RSS logo
Latvijas Vēstnesis "Everyone has the right to know about his or her rights."
Article 90 of the Constitution of the Republic of Latvia
© Official publisher "Latvijas Vēstnesis"
ISO 9001:2008 (quality management system)
ISO 27001:2013 (information security) Kvalitātes balva