Rare diseases centres of expertise in Bulgaria

What is the reason for not having yet formally established centres of expertise for rare diseases in Bulgaria?
VD: There is no adequate legal basis. Although there is a definition of centres of expertise in the National programme for rare diseases, it has to be regulated how these centres will work and who will finance their activities. Though not officially designated, there are currently well-functioning rare diseases centres of expertise. A very good example is the Centre for acromegaly at “Acad. Ivan Penchev” University Endocrinology Hospital, led by Professor Sabina Zaharieva. There we, the patients are followed up by highly trained medical professionals who have interned abroad and participated in international projects. Working in the only acromegaly centre in the country, physicians have succeeded to gain experience with many rare diseases patients. Patients could be also consulted by other profile physicians. The centre has also created a registry of patients with acromegaly, implemented by specially designed software. The centre works closely with the Neurosurgery Clinic at “St. Ivan Rilski” University Hospital, patients could undergo surgical treatment. The clinic has a laboratory certified for hormonal analysis. A project of our patient organisation is currently being prepared that will ensure a clinic psychologist, helping the patients to deal with the chronic disease and to adapt to the accompanying changes. I would like to take this opportunity to thank Prof. Zaharieva for everything she and her team are doing for us! Unfortunately, despite having many positive aspects, this model shows some shortcomings, which we hope will be cleared in near future. There are patients who are not covered by the work of the existing acromegaly centre, possibly because of economic reasons. Although this rare condition can not be followed up, nor adequately treated outside the acromegaly centre, many different clinics in the country and in Sofia periodically hospitalise such patients without sending them to the acromegaly specialised center. Also, this centralised scheme deprives the doctors from other hospitals to meet these patients and actually quite a lot of medical students and doctors have never seen a patient with acromegaly, which in our opinion reduces the opportunities for early diagnosis of the disease. I believe the proper regulation of the centres of expertise will find a solution to the existing problems.
VY: Sincerely, I think there are three main reasons. Firstly, the needs for additional funding, coming from the very limited health care resources and the many unresolved problems of the “frequent” diseases. Secondly, the competition for being “the best expert” and “leader” by the medical professionals. And finally, the lack of assessment of the effects of any kind of public health programme or strategy and the absence of responsibility, apart from the individual conscience for success or failure.
RS: I believe the reasons for this are two – the stopped health care reform and, on the other hand – the failure to implement the National Programme for Rare Diseases. Regarding the first reason – the highly advertised health care reform actually stopped 2-3 years after its start in 2000. Since then the health system is left without a clear strategy for development with numerous inconsistencies and contradictions between different laws and regulations. It is a curious and absurd situation in which, under the Health Insurance Act our health care system is funded by health insurances, but in practice is supported by the state budget. The lack of adequate senior management in the Ministry of Health during the years of reform has open doors for the passage of various lobbies, further fragmentation and differentiation of the system and has led to tensions and conflicts between different medical specialties and between physicians and patients. Problems were accumulated in absolutely all sectors of the health care system, which have affected all of us. The National programme for rare diseases failed to be implemented due to the shift in its objective – from adaptation of the health system to the needs of patients with rare diseases – to the purchase of consumables and reagents for genetic testing and screening, activities that generally should be financed and controlled by the National Health Insurance Fund.

From your perspective, what are the most important criteria to be met by a centre of expertise for rare diseases?
VD: The criteria to be met by rare diseases centres of expertise are 16 according to the recommendations of EUCERD. I think the main criteria must be: (1)the centre should have rare disease-profiled specialists, including an interdisciplinary team; (2) the centre should have the ability to follow up patients by dispensary observation (I consider the manner of work of the oncological dispensaries to be particularly appropriate for the rare diseases expert centres too – patients have free access to examination by a specialist), and by hospitalisation when necessary; (3)the centre should have the necessary equipment and laboratory to diagnose, follow up and treat rare diseases; (4)the centre should be obliged to advice to doctors from other hospitals (like the model of national consultants) and to work in collaboration with other centres of expertise in the country.
VY: Although there are no generally accepted criteria in Bulgaria, the experience has shown that centres of expertise are best created and operated by medical professionals who are interested, have previously developed similar activity and are experts in a rare disease or a group of rare diseases. It is because of the low prevalence of particular rare diseases that these centres can not be “multi-disease” or “multi-valent”, etc. After identifying the teams of specialists with expertise in a given group of rare diseases (or even in a single rare disease), a predermined procedure for designation should take place, accompanied by a additional funding for a period of time and more important – a periodic assessment of activities and an option for deprivation of this status in case of unpersuasive results.
RS: The criteria for designating centres of expertise for rare diseases were discussed and proposed in 2006 by the Task Force on Rare Diseases to the European Commission. Last year, the EU Committee of Experts on Rare Diseases (EUCERD) published recommendations on quality criteria for centres of expertise on rare diseases. I think in Bulgaria we should accept all the criteria of the recommendation of EUCERD and try as quickly as possible to identify and make visible all the clinical departments in the country, which “by reputation” are specialised in diagnosis, treatment or rehabilitation of a particular rare disease or a group of rare diseases.

How the multidisciplinarity of these centres should be realised in practise?
VD: Besides profile specialists, patients should be consulted by doctors from other specialties, knowing their underlying disease and its complications. For rare specific disorders and cases rehabilitation specialist must be provided as well.
VY: It seems to me that most commonly multidisciplinarity is perceived as a group of professionals with different expertise, who are able to cope with different rare diseases. I think multidisciplinarity should be more expressed as an ability of the centre to attract different medical professionals who can deal with the various aspects of these diseases. For example, it would be more useful to have a centre of sexual differentiation disorders, which in its turn to attract more and more competent specialists (surgeons, psychologists, sexologists, cardiologists, orthopedists, etc.) on functional principle rather than an expert centre, which works on many diseases, but has only 1-2 competent professionals. The capacity to attract established professionals for particular needs, including cross-border experts, is very important for the quality health care for people with rare diseases. In addition to the effect of much better and more adequate health care, the service will be much cheaper and effective. In this way we will also respect the advanced, more humane and more cost-effective principle of treating patients on site and “travelling” expertise.
RS: A multidisciplinary approach to rare diseases is essential in all phases of clinical management – from diagnosis and treatment to the physical and social rehabilitation of the patient. This is determined by the specificity of rare diseases and the frequent simultaneous affecting of several organs and systems. Thus, future centres of expertise for rare diseases should focus on collaboration and teamwork of all medical and non-medical professionals, which are required by a particular rare disease.

In this context, how the centres of expertise should be differentiated – by medical specialty, by specific rare disease/group of rare diseases, for children and/or adults, by territory?
VD: In Sofia, centres of expertise could be organised for a specific rare disease or group of rare diseases, because the majority of patients in Bulgaria are there, the medial specialists are also concentrated in Sofia, many clinical departments already operate as such centers, albeit not officially designated. In Varna we are happy that the project for a rare diseases centre of expertise is being run by two amazing professionals – Assoc. Prof. Yotova and Assoc. Prof. Kaleva. Maybe outside the capital, because of the smaller number of patients it is better to do this in joint centers for children and adults. It is necessary to include in each centre a person, coordinating the work with other centres of expertise, so that physicians from centre’s area can contact him/her for information and to be directed to a particular centre or specialist. Centres of expertise may also advise and train medical professionals and consult professionals from other centres of expertise.
VY: I think that I have already partially answered this question. Best differentiation is by disease (group of diseases), that means by medical competence and through call of proposals for centres of expertise. It is possible to have more than one centre of expertise for “more frequent” rare diseases (e.g., cystic fibrosis), but at least one must be officially recognised as a national reference centre (so, it would be a second opinion centre for others). Unfortunately, although Bulgaria is a small-area country, the poverty of much of the population and especially the deficit of resources in the health care system do not allow many people to reach adequate health care. So, the territorial criterion is also important in terms of minimising travel and stay costs. However, I do not understand how a country likeBulgaria can have two expert centres for diagnosis and treatment of Gaucher disease for example as it is both financially and organisationally impossible. That is why entire neighbour countries cooperate for the creation of expert centres for ultra rare diseases.
RS: The first step is to identify the available medical professionals and clinical units which are specialised for the diagnosis, treatment or rehabilitation of a specific rare disease or a group of rare diseases. In the beginning, the creation of entirely new centres of expertise is not justified, as they will probably remain outside the health system, can not be funded and operate normally. Do not forget that no country in Europe is able to ensure centres of expertise for all rare diseases due to the lack of qualified medical professionals. So, the new Directive on cross-border healthcare should help, by guaranteeing access for a patient with a rare disease to the nearest centre of expertise for his/her disorder in the EU, if there is not such one in the country of residence.

How should monitor and evaluate the work of these centers?
VD: We should establish criteria, based on the recommendations of EUCERD. But we must avoid difficult bureaucratic procedures, which would put unnecessary strain on the professionals. Once we have approved European standards for treatment of rare diseases, the quality of care for patients with rare diseases should be monitored and evaluated in the same way as that one of the other patients.
VY: By annual reports and a final report at the end of the designation period. These reports show be organised upon predefined criteria, including financial, should be publicly available to all expert centres. The centres’ activities have to be evaluated by a special public body of various stakeholders (medical professionals, students, national and local authorities, directors of hospitals, rectors of universities, patient organisations, media, financial institutions, etc.), the evaluation report should be also publicly available. That’s the only way to ensure maximum relevance of the assessment and to avoid the so characteristic of our region interpersonal relationships.
RS: Control and evaluation in healthcare is a difficult and still unsolved problem. A very important factor would be the source of funding for the future activities of the centres of expertise – state budget (MoH), public fund (NHIF) and/or European funding (EU). In any case, despite the reluctance of the European Commission to intervene in the healthcare policy of the Member States, I believe it is appropriate to create a European Agency for rare diseases, which would coordinate, supervise and ensure the quality of the activities of the centres of expertise on rare diseases in the EU.

Centres of expertise are the main theme of the Third National Conference for Rare Diseases and Orphan Drugs in September. What would you like to learn during this event?
VD: I expect to discuss the possibilities for regulating the centres of expertise on rare diseases during this meeting together with other medical professionals, representatives of MoH, NHIF, MoLSP, patients. There should be prepared proposals on what their status would be (in my opinion the best option is to regulated them as clinics within the university and other hospitals), how they should work (dispensary observation like the one in the existing oncological centres with opportunities for hospitalization if necessary) and be funded. Last but not least, once you lay down these centres, patients should be entitled for financial assistance from the Agency for social support. Their travel (and accommodation if hospitalisation not needed) costs should be reimbursed after submitting supporting documents.
VY: It would be great if the conference demonstrate the experience of countries with similar health culture, population and financial characteristics such as ours, but which have already started and established rare diseases centres of expertise. It is also important to use the competence and seek cooperation with advanced centres of expertise from other countries. Such centres are very often ready to help us in getting timely diagnosis and undergoing treatment, because they need a larger number of patients in order to maintain their own professional competence and expertise. Another important aspect to think about is the Bulgarian medical professionals’ awareness and knowledge of the process of research, discovery, authorisation, registration and schemes of use of orphan drugs. It would be very useful if the conference at least partially address these issues, as they may be part of the future activities of the expert centres. Finally, it is imperative to discuss mechanisms for registration and import of drugs that are not orphan, but are actually used by small groups of patients and because of economic reasons they are not available inBulgaria. The access of the patients and their families to these drugs is sometimes a nightmare. That organisational burden should not be taken by them.
RS: I hope that during the National Conference we could discuss the methodology for identifying and designating rare diseases centres of expertise in Bulgaria. It is important to consider the necessary legislative initiatives (eg., Ministerial ordinance on centres of expertise for rare diseases) in order to provide the needed funding, control and sustainable development of these institutions.

Finally, what is your message to our readers?
VD: I strongly believe that together – doctors and patients are able to create a better future!
VY: To the patients – take care for high standards to your own health, future, and health care that you could need, regardless of the specific economic or social situation. Fight for the sustainability of the system of service because lack of clear vision and frequent changes lower the quality, despite resources being increased. To the fellow medical colleagues – keep the love of your profession and learn to look more positively on your own achievements. Although more difficult these days, it is necessary to continue enlarging and improving the provision of health care. Ultimately, the physician’s most important task is to seek the best possible outcome for the patient, no matter if the health system is rich or poor.
RS: I wish the readers to have good health and to be more active and critical to what is happening in the health system as it concerns each of us.