1. Presentation for HL7 RCRIM and Clinical Genomics SIG HL7 Working Group Meeting San Diego, CA 21Jan2004

2. Clinical Trials Pre-Clinical (Animals) Phase I (Healthy Patients) Phase II (Small real patients) Phase III (Large real patients) Phase IV (Post Marketing)

4. 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)

5. 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

6. 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

7. Lab Subcommittee: In Progress Isolate and Standardize Common Elements Sequence, Codon, SNP, etc. Refine model with Standard Elements Fit Real Data to Model

8. Future Lab Model Extensions Additional Pharmacogenomics Processes Microarray Data Scientific Extensions Addition of nonSNP Genomic data (e.g. Introns) Interpretation of multiple HIV Strains

9. 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.