Centres of reference for rare diseases expectations based on Polish experience. Małgorzata Krajewska-Walasek

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1 Centres of reference for rare diseases expectations based on Polish experience Małgorzata Krajewska-Walasek Department of Medical Genetics, The Children s Memorial Health Institute, Warsaw, Poland My presentation is based on my personal experience with children affected with rare genetic disorders. So, it is mainly presented from a medical practitioner s point of view, however, I will focus part of this presentation on the expectations of the families having such a child. Current state of genetic health care in Poland By means of introduction, I would like to present the current state of genetic health care in Poland, in order to propose the creation of centers of reference (CRs) on this basis. Poland is nearly 313,000 km 2 in size with a population of approximately 38 mln, which is largely Roman Catholic (97.4%). It is a parliamentary republic that is economically still under reconstruction and its infrastructure is in need of modernization. The number of live births in 2004 was about with 11% of the infants being born to women aged 35 years or over. In Poland, medical genetics as a recognised medical speciality was established in However, contacts between Polish doctors and western human geneticists have much a longer history and date from the early 1960s. Most units of medical genetics are organized within medical schools (13) as well as research institutes. In Warsaw there are 3 such institutes: the Institute of Psychiatry and Neurology, specializing in such neuro-psychiartic and muscular disorders as: lysosomal diseases, ataxias, dystrophies; the Institute of Mother and Child, focusing mainly on mental retardations, and the Children s Memorial Health Institute, which I will present in detail in a moment. Registries In 1997 a Polish registry for congenital malformations started, covering nearly all of Poland. It is a government programme financed by the State Research Committee. In addition, an oncological register of hereditary tumours also exists.

2 Payment All genetic services are covered by National Health Insurance (from the central budget). Genetic departments belonging to medical schools receive some support from the State Research Committee (ministerial level). For instance, genetic departments are funded in at least 80% of cases by Health Insurance and in up to 2% by the State Research Committee. Co-ordination and Integration Usually, patients are referred to genetic counseling units by out-patient clinics in e.g. paediatrics, gynaecology and neurology or by hospitals. There are no regular links between medical genetics and other hospital specialities. Doctors referring their patients to genetic counseling units usually receive copies of information cards, with results of laboratory tests, clinical diagnosis, and information concerning genetic risk, indications for prenatal diagnosis and the appropriate medical treatment. The patient or the parents of the affected child usually also receive a copy of such an information card. Different specialists, such as paediatricians, gynaeco-obstetricians and neurologists are informed about progress in clinical genetics during regular postgraduate courses organized by the Centre for Postgraduate Medical Teaching. However, links with primary care and with public care are not satisfactory because of the general insufficiency of the health service as well as very poor knowledge and understanding of medical genetics amongst primary health care practitioners. Public awareness of genetic services is also very poor. Long-Term Care Patients who request long-term follow-up may have regular appointments in the genetic counseling or other out-patient clinics. For instance, special care for patients with neuromuscular diseases is organized by the in-patient neuropaediatric department and the out-patient clinic for neuromuscular disorders in the Clinical Hospital of the Medical School in Warsaw. Patients affected with lysosomal diseases and other inborn metabolic diseases, are under the care of the Children s Memorial Health Institute located in the Warsaw suburb of Międzylesie. Long-term care and dietary treatment of children affected with phenylketonuria (PKU) is provided at the Institute of Mother and Child, and in a number of specialized regional paediatric hospitals or departments. 2

3 Special long-term services and treatment for patients affected with cystic fibrosis are available at the Institute of Mother and Child (Warsaw) as well as some other specialised centres. Most patients affected with Wilson disease receive long-term care and treatment at the Institute of Psychiatry and Neurology. The Children s Memorial Health Institute The Children s Memorial Health Institute is the largest pediatric hospital in Poland as well as a reseach institute whose achievements are recognized at home and abroad. For 30 years we have been treating children from every part of Poland suffering from the most difficult or rarest diseases. We combine treatment and rehabilitation with multifaceted research and teaching activities. The mission of the Children s Memorial Health Institute is to provide the highest standards of treatment and care through understanding the needs of the Patients and their Families, based on the latest scientific achievements in pediatrics and the experience of the best medical personnel. As far as rare diseases are concerned, our Institute focuses i.e. on the following problems: - Division of Metabolic Disorders: 1. Improvement of early identification of rare metabolic defects in the Polish population through early sign and symptom selective screening 2. Development and introduction of complex diagnostics of mitochondrial cytopathy by employment of cytochemical, spectrophotometric and molecular methods 3. Introduction on a national scale of causative treatment of lysosomal diseases, including treatment of Gaucher disease with modified enzymes of exogenous origin. - Division of Endocrynology: 1. Biochemical and molecular diagnostics and prenatal treatment of congenital adrenal hyperplasia 2. Complex investigations to establish the legal gender in newborns and infants with bisexual gonads 3. Employment of molecular investigations in differentiation of sexual organ development abnormalities 3

4 - Department of Medical Genetics: 1. is specially interested in dysmorphology, the science concentrating on diagnosis of dysmorphic syndromes being the result of abnormal embryogenesis, 2. is also the Polish reference centre for clinical and molecular diagnostics and genetic counselling of familial X-linked hypophosphatemic rickets, hyperammonemia type 2, Hunter syndrome, Lesch Nyhan syndrome and Kelley and Seegmiller syndrome, Prader Willi syndrome, Angelman syndrome, glycerol kinase deficiency, inborn adrenal hypofunction, 21-hydroxylase deficiency, Nijmegen breakage syndrome, Smith Lemli-Opitz syndrome, COX-deficient Leigh disease, Rett syndrome, Long QT syndrome and Alagille syndrome. The Children s Memorial Health Institute has been awarded numerous research grants from the Ministry of Health and the Ministry of Science, international grants as part of the V and VI Framework European Union Cooperation Projects and is involved in multicenter trials in cooperation with academic centres in Europe and the world. As a national centre for treatment of specific diseases, the CMHI served as a Centre of Excellence within the V EU Programme for 3 yrs (2002 to 2005). In addition, as one of the main research institutes in Poland, it provides many studies on rare diseases. For instance, in its Department of Medical Genetics in co-operation with the Polish Register of Birth Defects and more than 2000 Polish pediatricians, clinical geneticists, and obstetricians, a kind of surveillance study is currently underway. It is a 3-year prospective study on recognition of SLOS, in both the post- and prenatal period. Role of genetic centres in CRs for rare diseases As I am a clinical geneticist, my intention in this presentation is mostly to point out the role of genetic centres in CRs for rare diseases Clinical genetic services are concerned with people and families who are threatened by significant genetic risk. They provide diagnosis, risk estimation, counselling, surveillance and support for rare conditions, dysmorphic and mental retardation syndromes. It is obvious that many of them, i.e. hereditary conditions, often involve multiple pathologies and management requires input from a variety of specialists As we can see, the whole medical care of the patients with the rare diseases is often multidisciplinary, so special attention should be turned to the some reorganization of genetic services: 4

5 - firstly: links with other specialists (secondary, tertiary) as well as links with primary care should be developed, - secondly: there is also a need for clinical genetics to define its role in the follow up management of patients with rare inherited disorders, - thirdly: as the principle should be that patients are best treated as close to home as possible, health centres should be developed to allow this, meaning at the regional level. Proposed structure of Centres of References Based on our Polish experience, the suggested structure of CRs at within European countries would be as follows: - regional centres within university hospitals, with a multidisciplinary team that : 1. would co-ordinate regional medical care by: contacts with primary care teams (by a kind of counsellors), their education (in order to control access to specialist services), and also by contacts with patients or their groups; 2. might serve as a diagnostic centre for a particular disease or group of diseases (lysosomal, neuro-muscular, etc.) at a national or even European level. The number of centres should be limited, mainly in order to have centres spread geographically throughout Europe but also to avoid duplication of competences by centres treating the same pathology in a close area; on the other hand centres working in the same field should be networked. - national centre one of the regional centres (may serve for a given period of time), which would: 1. supervise and co-ordinate regional centres; 2. organise trainings for health professionals, research programme (i.e. like the mentioned surveillance program); 3. co-ordinate long-term management of patients for some conditions; 4. assess recommendations on rare diseases at the national level, based on those for all members given by experts at the European level. - European centre chosen from national centres for a limited period (5 years), which would be responsible for developing guidelines, methodologies, collect evidence from a practice 5

6 base. Recommendations should be created by a group of 3 experts, but might be modified according to national (country) needs. It is important to note that all of these centres should also serve as a part of national health services, in accordance to given policy. Things about CRs Centres of reference should provide equal access for all citizens, regardless of their country of origin and personal resources, so based on the situation in Poland presented earlier, it seems that they should be financed by the central budget. Furthermore, the procedures should be flexible and transparent, and urgency has to be taken into account. Conclusions: - medical care for patients affected with rare diseases as well as their families needs to be organized in the form of pan-european centers and in co-operation with international services, - it should be networked, and the centers should be separated geographically, if this is at all possible, - within each involved country, some regional centers and one national one should be organized. They would closely co-operate with primary care health professionals as well as other centers working in the same pathology, - it is necessary to prepare guidelines at the European level but to allow a given member country to include its individual needs, - the procedures have to provide equal access to all citizens, so urgency has to be taken into account. Author: Małgorzata Krajewska-Walasek, M.D., Ph.D. Professor and Head, Department of Medical Genetics The Children s Memorial Health Institute Al. Dzieci Polskich Warsaw, Poland 6