French Minimum Data Set for Rare Diseases

This article introduces the research article titled “A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research” authored by Rémy Choquet, Meriem Maaroufi, Albane de Carrara, Claude Messiaen, Emmanuel Luigi, and Paul Landais. Published in the Journal of the American Medical Informatics Association in 2014, this paper addresses the significant challenges in diagnosing, caring for, and researching rare diseases, particularly within the European context.

Background and Problem: Rare diseases affect a substantial portion of the population, with estimates indicating 6–8% of all patients in Europe, translating to approximately 30 million people, and 3 to 4 million patients in France alone. Despite the high number of affected individuals, expertise for diagnosis and care is often difficult to locate, and the patient numbers required for meaningful research are scarce. A key impediment to effective rare disease management and research is the lack of standardized rare disease coding and systematized data collection at a national level, making patients barely identifiable within existing hospital information systems. The second French National Plan for Rare Diseases (2011–2014) explicitly recognized these issues, highlighting the urgent necessity for improved care coordination and robust epidemiological data for rare diseases.

Purpose and Objectives: To address these critical needs, the authors proposed and developed a clinical data standard in the form of a national minimum data set for rare diseases (F-MDS-RD). The overarching purpose of this work was to:

• Establish a consistent, interoperable national set of data elements (DEs) common to all rare diseases.
• Promote electronic health record (EHR) data entry at the point of care.
• Facilitate the future development of EU registries by proposing a European standard for rare disease patient-based registries.
• Specifically, the F-MDS-RD aimed to identify patients in the rare disease care network, help assess the network’s geographic distribution, and identify patients eligible for clinical trials or cohort studies.

Methodology: The development of the F-MDS-RD followed a comprehensive methodology designed to achieve national consensus. This involved:

1. Identifying four national expert groups including rare disease expert centers, a National Task Force, the National Plan Strategic Committee, and eHealth experts.
2. A systematic review of scientific literature and existing data catalogs (such as those from the US Office of Rare Disease Research, EPIRARE, and CEMARA projects) to build a preliminary set of common data elements (CDEs).
3. A national survey sent to 160 rare disease experts and task force members to validate the proposed data elements, with a decision tree used to determine item retention.
4. National validation by the National Plan for Rare Diseases Strategic Committee.
5. Standardization of the F-MDS-RD into an HL7 electronic format, specifically using Fast Health Interoperable Resources (FHIR), to maximize interoperability with electronic health records and facilitate data reuse.

Key Results and Significance: The resulting F-MDS-RD is composed of 58 data elements organized into six core categories: patient, family history, encounter, condition, medication, and questionnaire. These elements are further grouped into 13 themes including consent, patient identification, personal information, vital status, care pathway, diagnosis history, treatment, and participation in research. The F-MDS-RD is HL7 compatible and can utilize various ontologies like Orphanet, OMIM, or SNOMED CT for diagnosis or sign encoding, depending on national practices. The methodology successfully achieved national consensus in France, providing a foundational step towards:

• Fostering better care coordination for rare disease patients.
• Facilitating the identification of eligible patients for research studies, trials, or cohorts.
• Promoting interoperability and avoiding redundant data entry within healthcare information systems.

The authors conclude that other countries seeking to develop their own rare disease data collection standards could benefit significantly from the methods presented in this paper, thereby potentially contributing to international harmonization of rare disease registries. The F-MDS-RD also provides a basis for future efforts to define a comparable minimum data set at the European level.

APA Reference:

Choquet, R., Maaroufi, M., de Carrara, A., Messiaen, C., Luigi, E., & Landais, P. (2014). A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research. Journal of the American Medical Informatics Association. https://doi.org/10.1136/amiajnl-2014-002794