Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach

Abstract

Rare diseases (RDs), with distinctive and complex features, pose a serious public health concern and represent a considerable challenge for the Slovenian healthcare system. One of the potential approaches to tackling this problem and treating patients with RDs in a quality and effective manner is to form an RD ecosystem. This represents a functional environment that integrates all stakeholders, procedures, and relationships required for the coordinated and effective treatment of patients. This paper explores the current situation in the field of RDs, especially in light of the proposed ecosystemic arrangement, and provides an outline for the design of an RD ecosystem in Slovenia. The research applies a case-study design, where focus groups are used to collect evidence from the field, assess the state of affairs, and generate ideas. Structured focus group discussions were conducted with preeminent experts affiliated with the leading institutions in the field of RDs in Slovenia. Analyses and interpretations of the obtained data were carried out by means of conventional content analysis. Setting up an RD ecosystem in Slovenia would lead to significant benefits for patients, as it could promote the coordination of healthcare treatment and facilitate extensive monitoring of the treatment parameters and outcomes. A well-organized RD ecosystem could garner considerable systemic benefits for evidence-informed policymaking, a better utilization of resources, and technological innovation. Delivering quality healthcare in this complex field is largely reliant on the effective integration and collaboration of all entities within the RD ecosystem, the alignment of related systemic factors, and the direction of healthcare services to support the needs and well-being of patients with RDs.

Needs and Experiences With Health Care Providers of Adult Rare Disease Patients and Caregivers of People With Rare Diseases: Protocol for a Qualitative Study

“…In Slovenia, rare diseases pose a significant public health concern and represent a considerable challenge for the health care system [ 12 ]. It is roughly estimated that around 150,000 patients are affected by rare diseases in Slovenia [ 13 ], which emphasizes the importance of addressing this issue [ 14 ].…”

“…Recently, a register of rare, nonmalignant diseases was established in the Republic of Slovenia, which should provide valuable insights into this topic. While some studies have been conducted, such as the one by Halec et al [ 15 ] on the impact of rare diseases on an individual’s quality of life, and others by Stanimirović et al [ 12 - 14 ] focusing on systems development and strategies to improve care for patients with rare disease, there remains a notable absence of research centered on the experiences and needs of patients with rare disease and their caregivers in Slovenia.…”

Digital Transformation as One of the Instruments for Overcoming the Public Health Crisis: The Role and Use of Ehealth Solutions during the Covid-19 Pandemic in Slovenia

“…There is, of course, also a whole raft of back-office infrastructure and network platforms used by eHealth solutions that are not, in general, aimed directly at users (and are therefore not addressed specifically in this paper). In view of what has happened since the publication of the first strategic document on digital transformation in health in 2005, the implementation of the eHealth system, which was rolled out in 2016, represents an important milestone in the history of the development of Slovenia's health system (Stanimirović et al, 2021). This paper focuses on an analysis of the role and use of ePrescriptions, eAppointments, the CRPP and the zVEM portal during the Covid-19 pandemic in Slovenia; it also breaks down the normative framework of eHealth and the compliance of eHealth solutions with the fundamental principles of information security and the General Data Protection Regulation (GDPR).…”