We participated to the meeting of the TBMM Rare Diseases Research Commission on 23.10.2019 with Tepecik Training and Research Hospital Gynecology Clinic Specialist Assoc. Prof. Dr. İbrahim GÜLHAN.
Assoc. Prof. Dr. In his speech, İbrahim GÜLHAN said, "Rare diseases (and rare complex diseases) are generally life-threatening, chronic, addictive diseases, and about 8000 species have been identified so far. Roughly 80% of these develop due to genetic reasons, 20% to non-genetic causes and approximately 50% of them are seen in childhood. Although the European Union defines diseases less than one in 2,000 as such, not every country uses this figure. For example, France, Italy and Spain accept the figure of 1/2000, Sweden and Denmark the figure of 1 / 10.000, the UK the figure of 1 / 50.000; The USA defines diseases that affect a maximum of 200 thousand people in this way. It is estimated that approximately 30 million people in Europe and 400-450 million people in the world have a rare disease. Rare diseases, which are very few when considered alone, become enormous when they all come together. Lack of knowledge and experience for doctors about rare diseases is experienced and on the other hand, there are major problems in terms of patients due to difficulties in accessing late diagnosis and treatment.
In Europe, which has a strong organizing tradition for rare diseases, 800 associations from 54 countries, 26 of which are EU member states, came together in 1997 and established EURORDIS. The aim of EURORDIS, an international organization representing patients and their relatives, is to inform the public and to be the voice of 30 million patients in Europe by putting pressure on national and international authorities. One of the most important achievements of this organization is that it is obligatory to have patient representatives legally in the management and decision-making bodies of the European Reference Networks.
To avoid confusion regarding rare diseases, it is necessary to evaluate rare diseases in two different categories. Subjects related to patient management in the first category (follow-up, treatment, registration system, screening, prevention etc.); Subjects such as research, drug development, and research finance are included in the second category.
Today, we see that although the European Union does not have a common health policy due to the founding treaties, it has a common rare diseases policy. The most important reason for this is that it is understood by the EU that knowledge and experience must be combined in order to carry out the best clinical management and research in rare diseases and that sometimes even countries alone can be inadequate in this struggle. As a result of the rare diseases policy that the EU has been pursuing for nearly 20 years, in 2017, it established the 'European Reference Networks' system that unites rare disease centers in Europe in virtual networks.
We can take the beginning of the EU Rare Diseases Policy back to the regulation on rare diseases medicines, which was issued in 1999. This regulation included the number 1/2000 for the first time and included some incentive regulations for the development of drugs in rare diseases. After that, many regulations and directives have been enacted, the most important of which is the patient rights directive in cross-border health services issued in 2011. This directive also envisaged the establishment of a common reference network system for rare diseases, as well as many health-related regulations.
Today, it is accepted all over the world that the basic management method in rare diseases is to establish national follow-up centers and follow the patients there. At the time when the European Union started to form a rare diseases policy, there were more than 2500 national level follow-up centers for rare diseases in Europe. Although their characteristics varied from country to country, most of them were in the form of centers structured according to disease groups. The European Union first worked on how these centers should be structured, and ultimately decided that these centers should be 'specialist centers' using advanced expertise and technology, structured according to certain disease groups. Immediately afterwards, in 2011, certain standards and quality criteria were set for these 'centers of expertise' and provided financial and technical support to member countries with the EUROPLAN project in order to ensure these standards. The most basic feature of these centers is that they have a patient-oriented and multidisciplinary structure. Accordingly, there should be doctors, nurses, laboratory experts, researchers, genetic counselors, social workers and patient counselors who are specialized in a certain subject. Other expectations from these centers, which bring together specialists related to the treatment, rehabilitation and palliative needs of patients or provide this coordination are: to create treatment guidelines; collaborating with patient organizations to reflect the patient perspective; contributing to the development and dissemination of good clinical practice; providing training to healthcare professionals from all disciplines; providing reliable information to both patients and healthcare professionals; contributing to research and innovation that will enable understanding of the nature of the disease and improve diagnosis and treatment; contacting other national and European centers as needed.
Rare disease centers are called 'centers of excellence' in England. Coordinated treatment, appropriate workload for professionals, not being dependent on a single specialist, incorporating regulations for transition from childhood to adulthood, being in contact with patients, conducting research activities, educating healthcare professionals, and being in contact with international centers are also among their characteristics.
As emphasized before, a European Reference Networks system has been established by the EU in order to increase knowledge and experience in rare diseases and to ensure that patients are evaluated by the most competent centers and experts without leaving their locations. This system, which unites centers in Europe that have fulfilled the quality criteria of the EU in virtual networks, unified more than 900 units in 313 hospitals from 26 member countries and Norway into 24 networks in March 2017 according to disease types or groups. At the center of the European Reference Networks there is the 'patient clinic management system' platform, which is an e-health application. This platform was established to share patient information, including imaging, and to consult with other centers and experts. The European Reference Networks system works as follows; The patient first goes to the center in the network related to his disease in his country and is evaluated here. If the specialist here deems it necessary, he starts a consultation process for the patient and enters the patient's information into the system. Then, the experts of the centers within that network evaluate the patient and express their own suggestions, if any. Thus, the patient can get the opinions of the best centers and experts regarding his disease without leaving his own country. Another benefit of this system is that it will create a common data pool for very advanced research on rare diseases.
Considering the point reached today regarding rare diseases, we can count the following among the priority and important issues for our country. The category of patient management of rare diseases (ie diagnosis, treatment, follow-up, etc.) should rather be under the control of the Ministry of Health, but the category that includes other subjects (ie research, technology, drug development, etc.) should be owned by different institutions. Especially, it is an important need to implement a rare diseases regulation that includes the definition of rare diseases specific to our country. Our centers where rare diseases are followed should be structured according to the criteria in Europe and turned into Rare Diseases Follow-up and Treatment Centers (Specialization Centers). Rare diseases should be recorded in a central registry system by establishing a Rare Diseases Registry System and we should collect our own data. Another important point is that in all these processes and activities, the patient associations should be included in the decisions and their approval should be sought.
As a result, rare diseases are not as rare as it is thought, and the most scientific and effective method in combating rare diseases is to establish national registration and follow-up centers. This approach is the most compatible method with the new paradigm of the World Health Organization, "leaving nobody behind". The European Union has been working on the method of combating these diseases for at least twenty years and has established European Reference Networks at the peak of this process."