Banque Nationale de Données Maladies Rares
EPIRARE
Rare Disease and Orphan Drug Registries
EPIRARE International workshop
October 8-9, 2012
Italian National Institute of Health
Rome (Italy)
Approaches to the definition of common data elements
1. Approaches to the definition of
common data elements
EPIRARE
Rare Disease and Orphan Drug Registries
EPIRARE International workshop
October 8-9, 2012
Italian National Institute of Health
Rome (Italy)
2. The French Minimum Data Set for
Rare Diseases : a 3-step method
P. Landais,
A. de Carrara, C. Messiaen, M. Macabiau,
JP. Necker, A. Priouzeau and R. Choquet
and the 131 French reference centers for rare diseases
Supported by the French ministry of Health
4. Axis A
Improve the quality of patient ’s
care
A1- Improve the access to diagnosis et care
A-1- 4 Coordinate the «rare diseases» structures with a
shared information system
5. Axis B
DEVELOP RESEARCH ON RD
B-1 Create a national structure to impulse
rechesearch with public and private partners
B-1-1 Create a foundation dedicated to rare diseases
6. Two complementary programs
RaDiCo
Research
BaMaRa
Public health
Minimum data set
All patients
Groups
1
Cohorts (Phenomics)
Subgroups of patients
CRMR1
CRMR2
CRMR3
t0
t1
t2
t3
t4
CRMR4
CRMR5
2
CRMR6
CRMR7
t0
t1
t2
t3
t4
t5
t6
CRMR8
3
CRMR9
t0
CRMR10
….
t1
t3
t4
t6
t5
CRMRn
CRMRn+1
t0
CRMR128
18
t2
t1
t2
t3
t4
t5
CRMR129
CRMR130
CRMR131
t0
t1
t2
t3
t4
t5
t6
7. A joint information system for BaMaRa and RaDiCo
Program
BaMaRa
RaDiCo
Grand emprunt
Context
Ministry
Ministry of Health
Gestion
DGOS -> APHP
Objective
Public Health
Governance
Paul Landais
Budget
0,5M€/y/5 years
Ministère of Research
Inserm -> Foundation
RD
Research
S.Amselem A.Clement
P.Landais
0,95M€/y/10 years
Shared gestion
Shared gestion
Shared resources
Joint Information System
Joint Information System
ISy-rare
8. Building the RD Minimum data set: a 3 step
approach
Svensson-Ranallo PA, Adam TJ & Sainfort F AMIA Summits Transl Sci Proc 2011;2011:54-8
9. step 1 : collecting the existing material
MDS working
group
Existing
MDS
Scientific
Literature
131 centers of
reference
10. Step 1 : needs gathered from the French
centers of reference
Orphan drugs
Anthropometric data
Imaging
Clinic
Biology
Diagnostic
Anatomo-pathologic
Administrative
Other
Biological sample
Clinical trial
participation
Genetic
Evolution data
Epidemiologic
Socioeconomical
Reproduction history
Family history
11. step 2: filtering MDS 0.1
BNDMR ministry
office working
group
Survey 1
MDS working
group
Survey 1
131 centers of
reference
12. step 3: content definition and standardization
BNDMR ministry
office working
group
Survey 2
MDS working
group
Survey 2
131 centers of
reference
Standards :
HL7, SNOMED,
Orphanet,
OMIM, HPO,
SNOMED
13. 9 groups of items were retained
Patient identification
Treatment
Structure of the care unit
Activity
Contextual information
Ante and neonatal
information
Diagnosis
Consent
Research samples
14. Standards of coding
Standardisation : the use of standards to discard artifacts
(data elements, or information models) and qualify content
(coding item)
Standards for information models/data elements:
SNOMED (3.5, CT)
HL7
openEHR (EN 13606)
Terminologies:
Clinical Terms : LOINC, SNOMED CT
Orphan drugs : RxNorm, ATC, Theriaque, Vidal, Orphanet
Diagnostic MR : Orphanet
Signs : HPO (CIM10, signs to be validated)
Genes : OMIM, GenATLAS, Ensembl
