RD-Action publishes guidelines for implementation of the codification of rare diseases in health information systems
The under-representation of rare diseases (RD) in coding systems makes tracing RD patients’ pathways within healthcare systems difficult. This issue is crucial as it affects the possibility of estimating the global number of persons living with RD and their access to healthcare services. This data paucity is perceived as a relevant issue at multiple levels: by patients, by researchers and clinicians, as well as by national/regional health authorities, responsible for health planning activities and the allocation of resources, whether human, technical or economic.
In order to tackle this issue, in Orphanet has classified rare diseases since 1997, adopting a poly hierarchical approach. In this effort, still ongoing, each clinical entity in the Orphanet nomenclature is being assigned a unique and stable identifier, the Orphanumber. The subset of ORPHA numbers that is applicable for coding patients is called the ORPHA codes.
The Commission Expert Group on Rare Diseases (CEGRD) adopted a recommendation in November 2014 entitled Recommendation on Ways to Improve Codification for Rare Diseases in Health Information Systems in which it is recommended to include a codification policy for rare diseases in national plans, and to consider to introduce the ORPHA codes in Member States health information systems. In order to support this implementation, RD-Action set up a specific workpackage, by Dr Stefanie Weber at DIMDI (Germany) and with the participation of the French data bank for rare diseases (BNDMR) and the RD registry of Veneto Region. A large panel of participants and external experts on medical statistics contribute to this work.
As a fruit of this effort, a guideline document called Standard procedure and guide for the coding with Orphacodes has just been produced. It contains 6 recommendations adapted to different and well defined coding situations, i.e. for healthcare planning, for documenting the activity of expert centres, for statistical purposes, for research, for data exchange at the international level. According to these situations, three reference models for implementation are described, and coding and technical guidelines are provided.
This document is a major step towards the practical implementation of rare disease codification, necessary for interoperability between countries but also between different sources of data, coming both from care and research. Hopefully Member States, and countries beyond Europe can find here appropriate answers to questions posed by the challenge of RD coding, and find inspiration for real-life implementation.
