Two significant steps towards improved codification for rare diseases
Currently, only a small fraction of rare diseases have codes in international nomenclatures, making it a challenge to trace patients with rare diseases in health information systems on a national and international level. Having codes for each rare disease would help European and national health authorities obtain a better knowledge of healthcare pathways and of their impact on specialised health care services (centres of expertise for instance) as well as on a country’s budget planning for health and social service.
Although much headway has been made to ensure that the rarest diseases will appear in the next version of the International Classification of Diseases (ICD11) currently available in a beta version, the release date of this classification is not scheduled until 2017, and implementation may be much later. In order to ensure that rare diseases can be traced in health information systems as soon as possible, Orpha codes, which are linked with ICD11, are proposed as a complementary coding system when a code does not exist for a rare disease. Two steps were recently made to improve the codification of rare diseases in the form of the adoption of the Commission Expert Group on Rare Diseases’ first recommendation on ways to improve codification for rare diseases (Read the coding recommendation), and an expert workshop aimed at sharing experiences and approaches to the use of Orpha codes as a complementary coding system.
A first recommendation for the Commission Expert Group on Rare Disease focuses on improving codification
The European Commission Expert Group on Rare Diseases adopted its first recommendation on codification for rare diseases at their third meeting last month. Addressed to the MS and the European Commission, it outlines the state of play in the field, and provides the rationale for the use of Orpha codes as a complementary coding system when no specific code exists for a rare disease.
Six recommendations are proposed to improve the codification of rare diseases in health information systems. These include the need to consider a complementary approach whilst rare diseases are incorporated into ICD and SNOMED-CT; the importance of exchanging experiences on the use of Orphacodes at national level through a working group to be established in a future EU Joint Action on rare diseases ; and the further promotion of Orphacodes within the ICD11 revision process taking place at the World Health Organization. Member States are encouraged to consider and explore the feasibility of the use of Orphacodes at national level and to include the codification of rare diseases as an area of their national plans/strategies for rare diseases. The recommendation concludes with a strong encouragement for EU Member States and the European Commission to seek possibilities to support the implementation of identified solutions.
Exchanging experiences and approaches to coding rare diseases
On 1-2 October 2014, the European Commission's Joint Research Centre (JRC) hosted a workshop to explore the best ways in which to improve the codification of rare diseases in health information systems through the complementary use of Orphacodes. Orphacodes are the codes attributed to all rare diseases within the Orphanet classification. Experts from the fields of coding and registries joined Member State representatives to discuss the possible models for implementation of the additional Orphacodes at national level alongside the terminologies currently in use, as well as the possible areas of European collaboration to facilitate the use of data for rare diseases research in the future.
Participants agreed that coding systems, tools and practices around Europe are highly heterogenous and that a sole solution adapted to all countries' needs is unrealistic. However, a majority of European countries are interested in making rare disease patients visible in their health information systems using an Orphacode as a complementary code when one does not exist in the terminology they currently use. It was decided to promote further exchange between the countries interested in using Orphacodes and those that do so already so as to help countries define the best strategy, notably through the development of an alignment of Orphacodes and the versions of the International Classification of Diseases (ICD) used in each country. Although all efforts to implement Orphacodes will be carried out at national level due to national specificities, a common approach for data exploitation will be needed at European level in the future.
Consult the report from the workshop on Orphacodes in Health Information Systems.
These two steps bring the rare disease community a little further forward towards the goal of making rare diseases visible in health information systems. Once an effective system is in place, a wealth of information will be made available to help improve our knowledge of healthcare pathways, which will hopefully lead to improved planning of health and social services.
Read the flash report on the proceedings of the meeting of Commission Expert Group on Rare Diseases held on 12-13 November 2014