title: A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research.
abstract: BACKGROUND
  Although rare disease patients make up approximately 6-8% of all patients in Europe, it is often difficult to find the necessary expertise for diagnosis and care and the patient numbers needed for rare disease research. The second French National Plan for Rare Diseases highlighted the necessity for better care coordination and epidemiology for rare diseases. A clinical data standard for normalization and exchange of rare disease patient data was proposed. The original methodology used to build the French national minimum data set (F-MDS-RD) common to the 131 expert rare disease centers is presented.
  
  
  METHODS
  To encourage consensus at a national level for homogeneous data collection at the point of care for rare disease patients, we first identified four national expert groups. We reviewed the scientific literature for rare disease common data elements (CDEs) in order to build the first version of the F-MDS-RD. The French rare disease expert centers validated the data elements (DEs). The resulting F-MDS-RD was reviewed and approved by the National Plan Strategic Committee. It was then represented in an HL7 electronic format to maximize interoperability with electronic health records.
  
  
  RESULTS
  The F-MDS-RD is composed of 58 DEs in six categories: patient, family history, encounter, condition, medication, and questionnaire. It is HL7 compatible and can use various ontologies for diagnosis or sign encoding. The F-MDS-RD was aligned with other CDE initiatives for rare diseases, thus facilitating potential interconnections between rare disease registries.
  
  
  CONCLUSIONS
  The French F-MDS-RD was defined through national consensus. It can foster better care coordination and facilitate determining rare disease patients' eligibility for research studies, trials, or cohorts. Since other countries will need to develop their own standards for rare disease data collection, they might benefit from the methods presented here.
authors.affiliation: BNDMR, Assistance Publique Hôpitaux de Paris, Hôpital Necker Enfants Malades, Paris, France INSERM, U1142, LIMICS, Paris, France.
authors.forename: Rémy
authors.initials: R
authors.lastname: Choquet
authors.affiliation: BNDMR, Assistance Publique Hôpitaux de Paris, Hôpital Necker Enfants Malades, Paris, France INSERM, U1142, LIMICS, Paris, France.
authors.forename: Meriem
authors.initials: M
authors.lastname: Maaroufi
authors.affiliation: BNDMR, Assistance Publique Hôpitaux de Paris, Hôpital Necker Enfants Malades, Paris, France.
authors.forename: Albane
authors.initials: A
authors.lastname: de Carrara
authors.affiliation: BNDMR, Assistance Publique Hôpitaux de Paris, Hôpital Necker Enfants Malades, Paris, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Messiaen
authors.affiliation: Direction Générale de l'Offre de Soins, Ministère de la Santé et de la Solidarité, Paris, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Luigi
authors.affiliation: BNDMR, Assistance Publique Hôpitaux de Paris, Hôpital Necker Enfants Malades, Paris, France Faculty of Medicine, EA2415, Clinical Research University Institute, Montpellier 1 University and BESPIM, Nîmes University Hospital, France.
authors.forename: Paul
authors.initials: P
authors.lastname: Landais
mesh_terms: D035843:Biomedical Research; D065709:Common Data Elements; D003625:Data Collection / Q000379:methods; D066264:Datasets as Topic / Q000592:standards*; D005602:France; D006801:Humans; D035583:Rare Diseases; D018511:Systems Integration
keywords: common data elements; interoperability; metadata; minimum data set; national health program; rare diseases