According to some analytical estimates, there are approximately 150,000 patients with RDs in Slovenia [1
]. Notwithstanding the paucity of reliable epidemiological data, the outlined numbers indicate that this field is of major concern for the Slovenian healthcare system [2
], which remains considerably underfinanced across various levels, and continuously incapacitated in terms of healthcare resources [3
]. Substantial problems persist in relation to operating efficiency, increasing costs, and long waiting periods for some healthcare services [4
]. In addition to a deficiency of consistent epidemiological evidence and the overall lack of understanding and resources in the field, RDs commonly have intricate characteristics, which additionally intensify the gravity of this matter for the Slovenian healthcare system [6
]. In 80% of cases, they are of a genetic origin; in 70% of cases they affect children; and they are often incurable, advancing and life-threatening [1
]. It is discernible that the wide-ranging difficulties confronted by healthcare systems in handling RDs extend to several factors, which pose major challenges for national governments [7
]. The integration of these factors in a new intelligible and efficient structure necessitates innovative changes to the current setting in the field of RDs. Newly established and innovative structures in different sectors, which comprise human stakeholders and the relevant tangible and intangible components, as well as their interrelationships, are progressively being dubbed ecosystems
]. The ideal ecosystem in the field of RDs should therefore provide a functional environment that connects all policy and normative facilitators, institutional stakeholders, and the IT-enabled instruments required for the organized and comprehensive medical treatment of patients with RDs. An IT-enabled RD ecosystem must contain a regulatory framework, government agencies, insurance institutions, healthcare treatment and rehabilitation providers, patient and professional associations, national and supra/international RD organizations, IT tools and platforms (the National RD Registry and the National Contact Point for RDs (NCP)), the academic and research community, and operational mechanisms between all the listed entities, based on streamlined business processes and clear rules of operation [1
A large number of the itemized components from the favored ecosystem in the field of RDs are already in place in Slovenia and operate effectively (also on an international scale), however, some of these components are rather inactive and isolated, thus missing opportunities for more effective cooperation and performance. As a result, the whole field of RDs is affected by developmental challenges, coordination issues, and high operational expenses, as well as an inability to capitalize on existing institutional potentials and organizational synergies to address the expanding and increasingly diversified demands of RD patients [4
]. Given this situation, where essential components are not properly connected and often work incoherently, it is not possible to utilize all healthcare system capacities, which ultimately impairs the process of treating patients with RDs, on the one hand, and inevitably causes the irrational spending of already insufficient resources in healthcare, on the other. In order to develop a truly beneficial ecosystem in the field of RDs, it is necessary to set up an adequate normative framework, integrate all these components, manage their operation, and mitigate the problems associated with the coordination of stakeholders and the lack of resources. The integration of ecosystem components can only be realized by appropriate leveraging of IT solutions, which should act as the main facilitator for the establishment of a collaborative multicomponent RD ecosystem, that includes operational relations, which are materialized in optimized business processes, and advanced organizational enhancements [10
]. In view thereof, the aim of this paper is to explore the existing state of affairs concerning RDs and to outline the potential development directions in the field, especially in light of the proposed establishment of the RD ecosystem in Slovenia. Accordingly, this paper primarily focuses on outlining an ecosystemic approach to managing RDs in Slovenia.
Even though the research shows that RDs represent a serious public health concern [1
], the general lack of epidemiological data on numerous RDs makes it impossible to calculate their actual burden [47
]. According to some estimates, the number of patients with an RD in Slovenia exceeds the number of patients with type 2 diabetes [1
]. As is the case elsewhere, patients with RDs typically face late diagnosis, long-lasting and expensive treatment (if medication is even available), and social consequences [7
]. For individuals affected by these largely unpreventable diseases, a comprehensive public health approach, comprising the establishment of an operative RD ecosystem, would provide an important step towards more coherent and effective medical treatment, and significant improvements in the entire field of RDs [8
]. Raising awareness of RDs and the multilateral efforts made to regulate the field can significantly contribute to a more equitable allocation of resources, which, in its current form, is inadequate with regard to the scope of the problem and in comparison with some other diseases deemed to be public health priorities [2
The Slovenian healthcare system operates relatively well in the field of RDs, given the available resources and other systemic circumstances mentioned above. The current systemic arrangement in the field of RDs is a hybrid structure that combines both obsolete (policy, institutional, and organizational aspects) and modern components (treatment approaches, screening, patient support).
The existing system attempts to adapt to major innovations in the field of RDs, be they novel treatments (orphan medicines), new diagnostic and epidemiological tools (the NCP for RDs), new therapeutics, or the active participation in ERNs. Nevertheless, there are considerable opportunities for progress in the field of RDs, and the existing constraints will need to be addressed as comprehensively as possible in the future. This study facilitated a methodological examination of the existing state of affairs in the field of RDs in Slovenia, while the focus groups assisted in the identification of the most important systemic limitations and challenges, which predominantly touch upon the following issues:
The absence of an up-to-date policy framework, strategic documents, action plan, and evaluation metrics, including public health objectives;
Normative deficiencies and systemic/institutional non-compliance with regulations in the field;
Non-optimal institutional collaboration and coordination, and rather unsettled organizational and processual matters;
A substantial lack of resources (material, human, IT, organizational);
Inconsistent clinical and institutional practice in certain segments of the coding procedures; and
Isolated, non-user-friendly, and ineffective IT tools and platforms in the entire field of RDs.
The challenges identified have a wide-ranging adverse effect on the critical factors and hamper efforts to implement improvements throughout the field of RDs. Forthcoming strategies and measures will need to resolve these issues, since they could have a decisive impact on the establishment of an RD ecosystem and inhibit further developments that are urgently required, in the field of RDs. In view of these factors, there is compelling evidence from other social subsystems and industries supporting the idea that the establishment of an RD ecosystem would provide a foundation for the systemic regulation of RDs in the country [8
]. Every component outlined in the draft has a specific role in the proposed ecosystem constellation and should provide a significant contribution to the overall functioning of the RD ecosystem and offer benefits to either internal (professional) or external (patients) users. It is important to note that some charted components perform a more important role than others due to their integrative nature. Namely, components such as the National RD Registry, the NCP, health insurance, the treatment of RDs, international cooperation, and patient organizations are cross-sectorial and would ensure the implementation of appropriate work processes throughout the RD ecosystem itself, thus connecting all constituent components and stakeholders, especially healthcare professionals and patients.
Based on the literature review and focus group findings, a well-organized RD ecosystem, including its operative constituent components, could substantially contribute to a more comprehensive monitoring of RDs [25
], improved and better coordinated patient treatments [11
], reduced inequality, and to an increasingly effective mode of two-way communication between RD patients and other stakeholders [48
]. Furthermore, focusing on the policy, financial, and development aspects, an IT-enabled RD ecosystem could provide significant benefits for all healthcare decision-makers by enhancing evidence-informed policymaking, providing a convenient platform for the approximation and allocation of the required resources, and facilitating business process re-engineering, organizational restructuring [9
], and technological innovations, including predictive analytics and artificial intelligence [49
]. The content analysis process and the following inferences revealed that the institution of an inclusive RD ecosystem necessitates in-depth reforms of the existing arrangements, including the commitment of the stakeholders, sustained by focused policy measures and appropriate subsidies [50
The conceptualization of the ecosystemic approach, derived from the content analysis, has proved challenging, as it was crucial to consider all the specifics of the healthcare system, equally and in regulatory terms (policy, strategic) as well as institutional (organizational, process) and IT terms [53
]. Hence, the -requirements identified for the integration of the outlined components and potential establishment of an IT-enabled RD ecosystem will have to be grounded in a feasible strategy that accurately delineates the organizational structure, processes, roles, assignments, and competences of each constituent component. Due to the complexity and significance of the components involved, an RD ecosystem would inevitably require efficient collaboration, coordination, and process orientation, and an unwavering focus on the success of patient treatment and their general well-being. All these efforts will have to be supported by substantial levels of funding and the support of healthcare authorities. The proposed ecosystemic approach does not attempt to impose a simplified “one-size-fits-all” model for the resolution of the numerous concerns associated with the management of RDs. The study offers a valuable analysis of the contextual settings in the field of RDs in Slovenia, and could provide an applicable platform for upcoming experiments and developments in this domain.
Methodological Limitations and Forthcoming Research Orientations
The applied research framework contains an inherent methodological limitation. Namely, as suggested earlier in the text, current healthcare arrangements in Slovenia do not encompass a clearly delineated and adequately organized RD ecosystem, and it was therefore necessary to partially predict the effects of the RD ecosystem on the basis of theoretical ideas, a literature review, and suggestions provided by the focus group participants. Accordingly, the overall characteristics and implications of the proposed RD ecosystem have been hypothesized and gauged without conducting trials in real RD settings. These issues may therefore raise certain methodological dilemmas; hence, the research conclusions could be subject to different interpretations. Future studies should focus on an in-depth investigation of RD ecosystem implications for healthcare system performance in the field of RDs, and particularly on the simulation and testing of RD ecosystem features in an actual healthcare environment. Further inquiries should primarily attempt to define critical success factors and focus on formulating workable recommendations for the establishment of similar RD ecosystems in countries worldwide, since this field is generally under-regulated and underdeveloped, and, consequently, patients still do not receive ample medical treatment in many places due to non-medical reasons and dysfunctional systems in the field of RDs. Despite certain methodological dilemmas, the study reveals the complex subtleties and multifaceted concerns in the field of RDs in Slovenia, offering a clear impression of the critical role of an IT-enabled RD ecosystem, hopefully contributing to further developments in this fields.
The problems concerning the management of RDs in Slovenia largely overlap with the common challenges, outlined by the study, experienced on a global scale. In view of this, the establishment of an IT-enabled RD ecosystem in Slovenia would provide advantages for patients and healthcare professionals, on one hand, and healthcare managers and decision-makers, on the other. However, it is clear that introducing an ecosystemic approach necessitates the alteration of the entire operational paradigm in the field, including the adoption of sensible healthcare policies and a strategic framework. This should be followed by the extensive transformation of the constituent components so that they comply with the institutional, organizational, processual, and IT requirements of a functional RD ecosystem.
The establishment of an RD ecosystem in Slovenia would have significant potential and could be a determining factor in the future development of the field. Nevertheless, if the developed RD ecosystem has an uncoordinated and hollow structure, even if properly designed, it will not considerably improve the odds of patients with RDs. Ensuring the delivery of effective healthcare in this specific field is dependent on patient-centeredness, and responsiveness to patients’ needs. The successful implementation of an RD ecosystem would lead to the formation of a network of stakeholders that could actively participate in the further development of integrated and effective patient care. In this way, we could overcome various challenges and numerous systemic inconsistencies, which represent the main obstacles to the long-term and comprehensive regulation of RDs in Slovenia.