2. 1 HL7 Jan 2007 Working Group MeetingsPharmacogenomics Update RCRIM TC Philip M. Pochon Covance Enterprise Architecture

3. 2 HL7 Jan 2007 Working Group MeetingsPharmacogenomics Update History HL7 Models Single Gene (Genetic Locus) common message element Draft Standard for Trial Use – May 2005 (Revised May 2006) Multiple Gene (Genetic Loci) model common message element Draft Standard for Trial Use – Jan 2007 Pharmacogenomics Clinical Research Message Extension of the CDISC/HL7 LAB message Draft Standard for Trial Use – May 2006 Clinical Genomics Clinical Practice Message Piloted in pre-ballot form, June 2006 CDISC SDTM Pharmacogenomics domains Under development

4. 3 HL7 Jan 2007 Working Group MeetingsPharmacogenomics Update Genetic Locus CMET Structure The Genotype and its Alleles Significant Variations Expression Data Sequence Data Clinical Phenotypes

5. 4 HL7 Jan 2007 Working Group MeetingsPharmacogenomics Update SDTM Domain Assumptions CDISC PG Domain Content Specimen Data Specimen Preparation Results Testing Methods Mainly Derived from RCRIM/CTLAB CDISC PR Domain Genetic Results Interpretation of Results Links to Scientific databases Mainly Derived from CG CMETs

6. 5 HL7 Jan 2007 Working Group MeetingsPharmacogenomics Update CTLABR2 Changes Needed Inclusion of new genetic LOCI CMET to handle multiple gene tests

7. 6 HL7 Jan 2007 Working Group MeetingsPharmacogenomics Update FDA Use Issues Need to Handle Animal and Human Genetic Data SDTM domains can easily be converted to CDISC SEND domains No format/message available for the animal observation data FDA Pilot to include National Center for Toxicology Research (NCTR), which has used Array Track with animal data

8. 7 HL7 Jan 2007 Working Group MeetingsPharmacogenomics Update Current State SDTM and HL7 message work well with SNP Probe, Sequence, Electrophoresis and PCR methods (Classic Genetic Method) Some model fitting work with Gene Expression Array data Need to continue/expand this work

9. 8 HL7 Jan 2007 Working Group MeetingsPharmacogenomics Update Next Steps Vocabulary development At least for Genetic Methodologies Implementation Guide for pilot participants CMET guide updated in draft model CTLAB Release 1 guide available to be updated End-to-end pilot projects Use of HL7 Pharmacogenomics Message CDISC SDTM Pharmacogenomics Domains Pre-Clinical data with CDISC SEND?

10. 9 HL7 Jan 2007 Working Group MeetingsPharmacogenomics Update Time Lines for 2007 Q1 Complete Gene Expression Array Work Informal Vocabularies Completed HL7 XML to SDTM mapping completed Q2-Q3 Complete Implementation Guide Execute pilot projects (4+) Submission and Lab to Sponsor Q4 Lessons Learned and Recommendations

11. 10 HL7 Jan 2007 Working Group MeetingsPharmacogenomics Update Contact Information Philip M. Pochon Covance CLS 8211 SciCor Drive Indianapolis, IN 46214 phil.pochon@covance.com