gms | German Medical Science

Introduction: The Joint Action (JA) for Rare Diseases (RD) was initiated in June 2015 and aims to promote the implementation of recommendations on Policy, Information and Data for RD. It includes six different Workpackages (WP). One of them, the WP5, aims at developing a toolset to assist European countries in implementing Orphacodes, a specific coding system for RD, in a standardized and interoperable way. This should improve the codification of RD and hence their traceability in Health Care Systems (HCS).

Methods: The WP5 is based on the Commission Expert Group on RD´s “Recommendation on Ways to improve Codification for RD in Health Information Systems” [1]. A major WP5 ambition is the definition of common guidelines addressing the quality of codification and the coherence of exploitation at European level. To achieve these goals, the WP5 includes 4 tasks. Each task has its own focus but they are created to build on each other. Deliverables and milestones are set to ensure the achievement of the objectives.

Results: Within the first task, the necessary strategy and tools were defined and set to implement the Orphacodes in the European countries [2]. A survey about the State of the Art of the implementation of RD coding was conducted to assure that the strategy and tools are applicable in already existing approaches of implementations [3].

In the second task, the WP5 produced a document describing the standard procedure and guide for the coding with Orphacodes [4]. It also includes coding rules propositions for RD coding at European level. A first Master file (MF) was created for this purpose. After feedback from testers of Member States (MS), it was adapted and a new version was published including a specification and implementation Manual of the MF [5].

In the following and ongoing task, the MF will be tested together with the guidelines from the second task against already existing systems. The testing phase has a duration of approximately 5 months (until May 2018). Three different European MS are testing the developed resources at the moment.

During the last task, next steps to address long-term maintenance and sustainability of the resources will be determined. A recommendation for routine maintenance produced by WP5 and its collaborators and partners will be the outcome. The first results will be available around June 2018and will be depicted in as much detail as possible on the Poster.

Discussion: The described products and documents should assist to improve the statistical reporting with Orphacodes and increase the visibility of RD in Health Care Systems.

The survey showed that there are multiple approaches to implement Orphacodes in European MS. The resources are designed to be applicable within all different European HCS. The applicability of the resources is being tested and the results will help to adapt them to the users’ needs.

The European Commission published a new call (“Orphacodes project”). The aim of this project is to implement Orphacodes into routine coding systems. The implementation should be conducted on the basis of the resources described above.

The authors declare that they have no competing interests.

The authors declare that an ethics committee vote is not required.