Presentation for HL7 RCRIM and Clinical Genomics SIG Presentation for HL7 RCRIM and Clinical Genomics SIG

HL7 Working Group MeetingSan Diego, CA

21Jan2004

Clinical Trials

• Pre-Clinical (Animals)

• Phase I (Healthy Patients)

• Phase II (Small “real” patients)

• Phase III (Large “real” patients)

• Phase IV (Post Marketing)

Ÿ Site CRFsŸ Contract

LaboratoriesŸ Research

OrganizationsŸ Development

PartnersŸ Discovery Data

Data Sources

ODM

Ÿ Study DataŸ Audit TrailŸ Metadata

Operations DBs

SDMŸ CRT DatasetsŸ Analysis DatasetsŸ Metadata

Submission Data

LAB

ADaM

ECG

Genetic Testing for Clinical Trials

• Inclusion / Exclusion Criteria• Drug Metabolism Data• Disease Predisposition &

Progression• Gene Therapy & Efficacy• Viral Resistance Genotyping• Other Genetic Technology for

Clinical Trial Testing (eg. PCR)

Types of Clinical Genetic Testing

• Viral Genetics

Viral Load Testing (HIV PCR Viral Load) Viral Sequence Testing (Genotype, Phenotype &

Resistance Testing)

• Human Genetics

Microarray Testing Sequencing Testing SNP Testing

Lab Subcommittee: Completed Steps

• Model Prototypes

Viral Resistance Genotyping Human Tissue Transplant Rejection Markers Human Drug Metabolism Markers

• Fit Standard Use Cases to Model

Revise model

• Add Known Variant Use Cases

E.g. Reinterpretation of a Viral Sequence

Lab Subcommittee: In Progress

• Isolate and Standardize Common Elements

Sequence, Codon, SNP, etc.

• Refine model with Standard Elements

• Fit Real Data to Model

Future Lab Model Extensions

• Additional Pharmacogenomics Processes

Microarray Data

• Scientific Extensions Addition of nonSNP Genomic data (e.g. Introns) Interpretation of multiple HIV Strains

Next Steps

• Define Relation to New HL7-I3C- CDISC-FDA Effort

Flow from Preclinical to Lab to Operational to Analysis and Submissions Models

Common Large Models with Subsetted Implementations

• Refinement of Common Data Structures

Sequence, Codon, SNP, etc.