Skip to main content

Table 1 Priority areas and critical factors in the RD field highlighted by the experts

From: Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia

Priority area Critical factor
Clinical work - Envisaged benefits and potentials of RD registries for clinical work with patients, designing standards, and research
-Monitoring the effects of patient treatment and planning further procedures
-Effective work and access to all relevant patient information in one place
Patient treatment perspective - Better coordination and monitoring of the treatment process
- Higher quality, safer medical treatment and better treatment results (better quality of life)
-An effective communication channel and secure exchange of information
- Evidence-based allocation of resources for patients with rare diseases
ICT infrastructure and solutions - Effective and user-friendly ICT solutions (RD registry)
- Ensuring interoperability despite the heterogenity of the information systems
- Definition of the rules of operation, information flows, and organizational processes
-The role of eHealth (the Central Registry of Patient Data (CRPD))
Normative framework - Adequate legal basis
-Protection of personal data (application of the safe-by-design principle)
-Personal Data Protection Act / General Data Protection Regulation (GDPR)
Development of the PRDR and conceptualization of the RD ecosystem in Slovenia - Strategic documents and development directions
-Research and pilot projects
-Adequate funding, engagement of stakeholders, and healthcare policy support
-Selection of the appropriate approach for the development of the PRDR (and subsequently the national RD registry) and the establishment of the RD ecosystem in Slovenia