Approaches to the definition of
common data elements
EPIRARE
Rare Disease and Orphan Drug Registries
EPIRARE International...
The French Minimum Data Set for
Rare Diseases : a 3-step method

P. Landais,
A. de Carrara, C. Messiaen, M. Macabiau,
JP. ...
28 février 2011
Axis A
Improve the quality of patient ’s
care
A1- Improve the access to diagnosis et care
A-1- 4 Coordinate the «rare dise...
Axis B
DEVELOP RESEARCH ON RD
B-1 Create a national structure to impulse
rechesearch with public and private partners
B-1-...
Two complementary programs
RaDiCo
Research

BaMaRa
Public health

Minimum data set
All patients
Groups

1

Cohorts (Phenom...
A joint information system for BaMaRa and RaDiCo
Program

BaMaRa

RaDiCo
Grand emprunt

Context
Ministry

Ministry of Heal...
Building the RD Minimum data set: a 3 step
approach

Svensson-Ranallo PA, Adam TJ & Sainfort F AMIA Summits Transl Sci Pro...
step 1 : collecting the existing material

MDS working
group

Existing
MDS

Scientific
Literature

131 centers of
referenc...
Step 1 : needs gathered from the French
centers of reference
Orphan drugs
Anthropometric data

Imaging
Clinic

Biology
Dia...
step 2: filtering MDS 0.1
BNDMR ministry
office working
group

Survey 1

MDS working
group

Survey 1

131 centers of
refer...
step 3: content definition and standardization
BNDMR ministry
office working
group

Survey 2

MDS working
group

Survey 2
...
9 groups of items were retained

 Patient identification

 Treatment

 Structure of the care unit

 Activity

 Contex...
Standards of coding
 Standardisation : the use of standards to discard artifacts
(data elements, or information models) a...
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Approaches to the definition of common data elements

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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)

Published in: Health & Medicine
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Approaches to the definition of common data elements

  1. 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. 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
  3. 3. 28 février 2011
  4. 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. 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. 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. 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. 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. 9. step 1 : collecting the existing material MDS working group Existing MDS Scientific Literature 131 centers of reference
  10. 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. 11. step 2: filtering MDS 0.1 BNDMR ministry office working group Survey 1 MDS working group Survey 1 131 centers of reference
  12. 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. 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. 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

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