On Thursday, 18 June 2020 the Medicina Danes magazine organized a webinar titled “Views on the development of a new national plan for the management of rare diseases” which was also supported by the Forum of International Research and Development Pharmaceutical Companies. Medicina Danes is working to connect experts and Slovenian physicians to effect positive shifts in the healthcare system at the national level and develop a national plan for the management of rare diseases. Estimates show that Slovenia currently has 120,000 patients living with rare diseases. Globally 80 % of rare diseases have a genetic origin and 75 % of patients with rare diseases are children.

Speakers at the webinar were: Prof. Dr. Borut Peterlin from the Institute of Genetics at the Ljubljana University Medical Centre, Doc. Dr. Blaž Koritnik of the Division of Neurology at the Ljubljana University Medical Centre, Dr. Urh Grošelj from the Division of Pediatrics at the Ljubljana University Medical Centre and Dr. Tina Bregant, State Secretary at the Ministry of Health.

Discussions with the experts focused on finding best practices that were included in the old national plan of rare disease and seeking new challenges to inform the development of the new plan. This year marks the expiry of the 9-year national plan of rare diseases and at the end of its implementation we can say that it has achieved quite a lot. We have introduced new social care models for patients, established and financed an information point for rare diseases, improved access to information and diagnostics for rare diseases and achieved the marking of a national day of rare diseases.

Prof. Dr. Borut Peterlin from the Institute of Genetics sees the maintenance and further improvement of the already high degree of quality of healthcare services as an important elements of the future plan. Creativity and innovation will play a major role in the Slovenian healthcare system. Modern healthcare systems will need to be based on values and we will need to develop new financing models to correspond to Slovenian circumstances and our smallness. According to Dr. Peterlin smallness is a major advantage in this case.

The opinion of Prof. Peterlin is supported by Dr. Koritnik from the Division of Neurology who also emphasizes the issue of unity in the drafting of the plan. The management of rare diseases often includes different experts who are not fully familiar with all fields of medicine. That is why it is important to institute a certain degree of heterogeneity in the drafting of plans to allow better cohesion between different fields. The register currently under development must serve as a single tool for addressing several illnesses. The Covid-19 epidemic has left its mark as well, forging the path to different methods of managing rare diseases. One such method has been the increase of house visits. Practices have proven to be very effective.

Dr. Grošelj from the Department of Pediatrics agrees that much has been achieved in the field of rare diseases and adds that gene therapy treatments should be relocated to the home environment of Slovenia in spite of successful practices abroad. Dr. Grošelj also emphasizes the issue of a national contact point used to inform patients and their family members. Such a point would set up a forum and opportunity of mutual cooperation between the patient and physician. The number of calls to the contact point has begun to increase and open questions that are too complex, creating the need for further specialized knowledge. Upgrades will need to focus on creating a comprehensive solution as the current system does not provide sufficient support to patients. Advances have also been made in the register of rare diseases. We found the common denominator of these diseases and

developed a list of common data as a set of legal characteristics of such diseases. We are now lacking a technical and systemic solution.

Rare diseases are one of the fields of work at the Ministry. Tina Bregant, State Secretary at the Ministry, says that the field of rare diseases is currently not receiving much attention as the primary focus has shifted on the current situation caused by the coronavirus, a disease we knew nothing about in the past year. The field of rare diseases is multidisciplinary and must put the patient in the centre. When the coronavirus crisis recedes, we will be able to focus more attention on causal treatments of rare diseases.

The current national plan that is set to expire this year has brought about some major developments, increasing awareness and developing new modes of social care, while the current epidemic has brought new ways of thinking and other methods of managing rare diseases. Developing the new plan will require creativity, innovation and new financing models.

Link to full webinar: https://www.youtube.com/watch?v=0Vu6-xmnTeQ