RIMBAA Meeting LifeLines en de keuze voor een generiek model 16 februari 2010 Arthur Kuipers

Kengetallen 2006 gestart 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

Dataverzameling LifeLines Datacentre LifeLines Lab & Archive GP Records GP Health Record Symptoms Diagnoses Referrals Medications Procedures Hospital Records ICD-10/ICD-9 (Diagnoses) OPCS4 (procedure) Primary Diagnosis Questionnaire e.g. Diet Circumstances Family History Employment Smoking, alcohol Lifestyle Medications Cognitive Function Health Measurements e.g. Height, Weight Respiratory Function Sight Blood Pressure Results Biochemistry Haematology Advanced testing Biomarkers Genomics

spatial temporal molecule pathway cell organ individual population segments society Chemical Domain Biological Domain Clinical Domain Public Health Domain drug information molecule structure chemical reaction solubility potency toxicity publication etc. protein structures gene expression sequencing data genenotype microarray data SNPs biomarker annotation pathways Locus publication etc. individual EHR claims biomedical controlled vocabulary clinical care pathways and guidelines decision support and diagnostic rules alerts and triggers demographic patient information clinical trail data observations symptoms clinical characteristics (phenotype) phenotypic data test results diagnosis intervention disease progression patient outcome evidence etc. demographic hospital records surveillance data educational material publication etc. Data Spectrum Spatio-Temporal Spectrum Dataverzameling

Veel! Veelsoortig Grote hoeveelheden Verschillende structuren Langdurig Gebruik

LR 2 Solution (LR 2 S) External Data Provider Research Portal Appli cation (Lifelines) LR 2 Infostructure (LR 2 i) Common Services Communication Bus Services Research Services & Registries (RSR) Clinical Data Repository (CDR) Architectuur

Clinical Data Repository (CDR) Generic Data & Services Publish Data Stage Data & Services Repository

LR 2 S LR 2 i XIS Lifelines FE pheno Data Provider Data Resource Researcher CatalogueAnalysisDiscovery CDR Publish Generic Stage Lifelines FE geno Stage DB Publish Stage FS Molgenis / Retrieval Suite / InforSense Generic

Pseudonimisatie

TTP AHON Client HIS Domein Huisarts d41d8cd98f00b204e ecf8427e Pseudonimiseren bij de bron

PublishLayer “DWH” GenericLayer (HL7V3 RIM, PRIM) StageLayer (raw data, snapshot, metadata) PresentationLayer CDR TTP Research- PsID Source- PsID Trusted- PsID

Dataflows

Increasing Search Capability Increasing Metadata weak semantics strong semantics recovery discovery intelligence question answering reasoning Axiology Modal Logic First Order Logic Description Logic UML OWL RDF/S Topic Map ER Model DB Schema, XML Schema Relational Model, XML Model Controlled Vocabulary Glossary Logic Theory Conceptual Model Taxonomy Thesaurus List Syntactic Interoperability Semantic Interoperability Structural Interoperability source: Dr.Leo Obrst,Mitre; Mills Davis,Project 10X Gezocht : oplossingen!

Mogelijkheden HL7 – PRIM – NEN13606 – EAV model Ervaring HL7 en research Coderingsstandaarden SNOMED-CT PSI Portavita, MGRID DCM Fysieke implementatie Opslag MGRID HL7-standaard voor queries, query mogelijkheden Tooling : ETL, mapping Best practices Discussiepunten