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)

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

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 diseases» structures with a shared information system

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

BaMaRa RaDiCo

CRMR4

CRMR3

CRMR2

CRMR1

CRMR8

CRMR7

CRMR6

CRMR5

CRMRn+1

CRMRn

CRMR10

CRMR9

CRMR131

CRMR130

CRMR129

CRMR128

Groups

1

2

3

18

….

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

Minimum data setAll patients

Cohorts (Phenomics)Subgroups of patients

Two complementary programs

Public health Research

Budget

Governance

Objective

Gestion

Ministry

Context

Program

Ministère of Research

Inserm -> Foundation RD

Research

S.Amselem A.Clement P.Landais

RaDiCo

0,95M€/y/10 years

Grand emprunt

Ministry of Health

DGOS -> APHP

Public Health

Paul Landais

BaMaRa

0,5M€/y/5 years

Shared gestionShared gestion Shared resourcesShared resources

Joint Information SystemJoint Information System ISy-rareISy-rare

A joint information system for BaMaRa and RaDiCo

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

step 1 : collecting the existing material

131 centers of reference

Existing MDS

Scientific Literature

MDS working group

Step 1 : needs gathered from the French centers of reference

Orphan drugsImaging

Clinic

Diagnostic

Administrative

Other

Clinical trial participation

Evolution data

Reproduction history

Family historySocio-economical

Epidemiologic

Genetic

Biological sample

Anatomo-pathologic

Biology

Anthropometric data

step 2: filtering MDS 0.1

131 centers of reference

BNDMR ministry office working

group

MDS working group

Survey 1

Survey 1

Standards : HL7, SNOMED,

Orphanet, OMIM, HPO,

SNOMED

step 3: content definition and standardization

MDS working group

BNDMR ministry office working

group

131 centers of reference

Survey 2

Survey 2

9 groups of items were retained

Patient identification

Structure of the care unit

Contextual information

Diagnosis

Consent

Research samples

Treatment

Activity

Ante and neonatal information

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