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  1. 1. The French RD Registry Paul Landais & Rémy Choquet BNDMR, Montpellier & Paris, France Istituto Superiore di Sanità, March 5th, 2014 1
  2. 2. 2 A National data bank for rare diseases (BNDMR) dedicated to the centres of expertise The French Data Repository for RD
  3. 3. BNDMR : objectives  Objectives:  Describe the demand for care  Describe the offer of care  Assess the adequacy of the supply to the demand  Identify potentially eligible patients for clinical trials or cohorts  Means:  Implement a national database  Supporting a minimum data set  Set up an interoperability framework 3
  4. 4. Domains, systems, objectives and interoperability Epidemiology Care Research Interoperability of systems and data Data bases Electronic Health Record Case Report Forms Public Health Epidemiology Clinical trials Cohorts Patients support of care Source: BaMaRa 2013 Objectives Systems Domains connectors connectors
  5. 5. Data Warehouse Systems Interoperability Domains Infrastructures BNDMR : National Data Bank for Rare Diseases; BaMaRa: Rare Diseases Database; EHR: Electronic Health Record; MDS : Minimum Data Set ; RaDiCo : Rare Disease Cohorts; SNIIRAM : Information system of the Health Care Insurance; PMSI : Activity based Payment Information System; SAE : Hospitals Annual Statistics ; DRESS : Direction for research, studies, evaluation and statistics of the Ministry of Health; INSEE : National Institute for statistics and economic studies. Source : Landais P, Choquet R, BaMaRa 2014 Epidemiology Care Research BaMaRa EHR MDS RaDiCo connectors BNDMR SNIIRAM PMSI SAE DRESS INSEE Other sources BNDMR, PNMR2, DGOS Plan Hôpital Numérique, DGOS,DGS,ARS RaDiCo, investments for the future, INSERM, ANR Interoperability framework Interoperability of systems and data connectors BNDMR
  6. 6. The French RD network  131 RD centers of expertise  501 RD centers of competence  54 laboratories for molecular diagnosis  Biological resources centers  12 RD registries  Ongoing research programs:  49 NRA ; 158 PHRC (hospital research program);  227 clinical trials (106 academic, 121 industrial) RDCE4 RDCE3 RDCE2 RDCE1 RDCE8 RDCE7 RDCE6 RDCE5 RDCE n+1 RDCE n RDCE10 RDCE9 RDCE131 RDCE130 RDCE129 RDCE128 Sectors (RD) I II III n ….
  7. 7. The French RD network BNDMR/BaMaRa RaDiCo Data: Minimum data set All the patients Data: Extensive longitudinal follow-up (Phenomics) Subgroups of patients t0 t1 t2 t3 t4 t5 t6 t0 t1 t2 t3 t4 t5 t6 t0 t1 t2 t3 t4 t0 t1 t2 t3 t4 t5 t6 t0 t1 t2 t3 t4 t5 Public health Research RDCE4 RDCE3 RDCE2 RDCE1 RDCE8 RDCE7 RDCE6 RDCE5 RDCE n+1 RDCE n RDCE10 RDCE9 RDCE131 RDCE130 RDCE129 RDCE128 Sectors (RD) I I I III n ….
  8. 8. An interoperability framework for RD 8
  9. 9. National identifier  The identification of patients in the French health systems is subject to specific restrictions defined by the CNIL (National Committee for Informatics and Freedom).  Proposal for a national rare diseases unique and anonymous.  Generate a unique identifier for RD, according to the regulations in force, in order to reduce the number of duplicates (two IDs for a single patient) and possible collisions (same ID for two different patients).  Such an approach has already been carried out by the GRDR in the USA: the Globally Unique Identifier (GUID). 9
  10. 10. Coding information  Definition of a minimum data set (MDS) common to all centers of expertise and for all rare diseases  It enables :  Homogenizing data collection  Identifying and following the active list of RD patients  Accounting for the RD activity performed in a reference center  The minimum data set is standardized and available for industrial suppliers of informatics solutions (without commercial use).  It is available at the European level. 10
  11. 11. The French RD minimum data set  Consent (according to Regulatory recommendations)  National anonymous patient Identifier (subject to validation by the CNIL)  Personal information  Family information (if applicable)  Vital status  Care pathway  Care activity  Medical history  Diagnosis  Diagnosis confirmation  Treatment (orphan drugs)  Ante and neonatal course (if applicable)  Research  Structure of care 11
  12. 12. MDS availability  The RD minimum data set is licensed under Creative Commons Attribution - Noncommercial use – Share under the same conditions 3.0 France (and 4.0 international)  For industrial suppliers of informatics solutions, the MDS use is allowed when an interface is also created in the host application to ensure the sending of data to the BNDMR.  Downloadable at 12
  13. 13. Flow & data exchange processes  Each center may have multiple databases to collect patients data in the active list.  Information can be divided into various applications: patient record, local, national or international registries, Excel file, paper.  Each database being technically different, the development of connectors with the BNDMR is each time different.  The BNDMR team publishes formats for data exchange enabling to communicate with the national base.  We accompany the reference centers to define the best strategy for implementing the process of exchange between internal applications and the BNDMR.  Security topics concerning patients’ data are discussed with the technical teams. 13
  14. 14. An aid for coding RD 14 Linking Opendata for Rare Diseases
  15. 15. 15
  16. 16. Inventory 16
  17. 17. 17
  18. 18. 18 Call for RD cohorts
  19. 19. Acknowledgments  To our collaborators of the BNDMR team: Y Fonjallaz, A de Carrara, M Maaroufi, C Messiaen, JP Necker, C Angin.  To the RaDiCo team: S Amselem, A Clement, J Weinbach.  To the members of the network of the 131 RD Centers of expertise  To the members of the BNDMR Steering Committee  To the DGOS and the DGS members in charge of the PNMR2: D Péton-Klein, V Drouvot, P Dosquet  To the staff of the clinical research unit of the University Montpellier 1, EA 2415 and Nîmes university hospital  This program is funded by the French Ministry of Health 19