RIMBAA Meeting

LifeLines en de keuze voor een generiek model

16 februari 2010

Arthur Kuipers

Kengetallen• 2006 gestart• 165.000 deelnemers uit GR/FR/DR• 3 generaties• 30 jaar lang medisch volgen

Focus• Frequent voorkomende (chronische) ziektes

met hoge impact• Factoren die met meer dan één ziekte

geassocieerd zijn• Multi factoriele ziekten (gen + omgeving)• Onderzoek naar determinanten en dynamiek

van gezond ouder worden

LifeLines: cohort studie

DataverzamelingLifeLines Datacentre

LifeLines Lab & A

rchive

GP Records

GP Health RecordSymptomsDiagnosesReferralsMedicationsProcedures

Hospital RecordsICD-10/ICD-9 (Diagnoses) OPCS4 (procedure)Primary Diagnosis

Questionnaire e.g.DietCircumstancesFamily HistoryEmploymentSmoking, alcoholLifestyleMedicationsCognitive FunctionHealth

Measurements e.g.Height, WeightRespiratory FunctionSightBlood Pressure

ResultsBiochemistryHaematologyAdvanced testingBiomarkersGenomics

spat

ial

te

mpo

ral

molecule pathway cell organ individual population segments society

Chemical Domain

Biological Domain Clinical Domain

Public Health Domain

drug informationmolecule structurechemical reaction

solubilitypotencytoxicity

publicationetc.

protein structuresgene expressionsequencing data

genenotypemicroarray data

SNPsbiomarkerannotationpathways

Locuspublication

etc.

individual EHRclaims

biomedical controlled vocabularyclinical care pathways and guidelinesdecision support and diagnostic rules

alerts and triggersdemographic

patient informationclinical trail data

observationssymptoms

clinical characteristics (phenotype)phenotypic data

test resultsdiagnosis interventiondisease progression

patient outcomeevidence

etc.

demographic hospital records surveillance data

educational material publication

etc.

Data Spectrum

Spa

tio-T

empo

ral S

pect

rum

Dataverzameling

DataverzamelingVeel!

• Veelsoortig• Grote hoeveelheden• Verschillende structuren• Langdurig• Gebruik

LR2 Solution (LR2S)

External Data

Provider

Research Portal

Application

(Lifelines)

LR2 Infostructure (LR2i)

Common Services

Com

mun

icat

ion

Bus

S

ervi

ces

Research Services & Registries (RSR)

Clinical Data Repository (CDR)

Architectuur

Clinical Data Repository (CDR)

Generic Data & Services

Publish Data

Stage Data & Services

Repository

LR2S

LR2i

XISLifelines FE phenoData

Provider

Data Resource

ResearcherCatalogueAnalysis Discovery

CDRPublish

Generic

Stage

Lifelines FE geno

Stage DB

Publish

Stage FS

Molgenis / Retrieval Suite / InforSense

Generic

Pseudonimisatie

TTP

AHONClientHIS

Domein Huisarts

d41d8cd98f00b204e9800998ecf8427e

Pseudonimiseren bij de bron

PublishLayer“DWH”

GenericLayer(HL7V3 RIM, PRIM)

StageLayer(raw data, snapshot, metadata)

PresentationLayer

CD

R

TTPResearch-PsID

Source-PsID

Trusted-PsID

Dataflows

Increasing Search Capability

Incr

easi

ng M

etad

ata

wea

k se

man

tics

stro

ng s

eman

tics

recovery discovery intelligence question answering reasoning

Axiology

Modal LogicFirst Order Logic

Description Logic

UMLOWL

RDF/S

Topic Map

ER ModelDB Schema, XML Schema

Relational Model, XML Model

Controlled VocabularyGlossary

Logic Theory

Conceptual Model

Taxonomy

Thesaurus

ListSyntactic Interoperability

Semantic Interoperability

Structural Interoperability

sour

ce: D

r.Leo

Obr

st,M

itre;

Mill

s D

avis

,Pro

ject

10X

Gezocht : oplossingen!

MogelijkhedenHL7 – PRIM – NEN13606 – EAV modelErvaring HL7 en researchCoderingsstandaarden SNOMED-CT

PSIPortavita, MGRIDDCM

Fysieke implementatieOpslag MGRIDHL7-standaard voor queries, query

mogelijkhedenTooling : ETL, mappingBest practices

Discussiepunten