HL7 Clinical Genomics SIG

HL7 Clinical Genomics SIG Conference Call Meeting Minutes July 1st, 2008

For more information on the Clinical Genomics Special Interest Group, please contact one of the co-chairs listed below:

First Name Last Name Organization e-mail IBM Research Lab Amnon Shabo (Shvo) [email protected] in Haifa Massachusetts General Hospital, Kevin Hughes [email protected] Partners HealthCare Harvard-Partners Ullman- Center for Mollie [email protected] Cullere Genetics and Genomics Phil Pochon Covance [email protected]

Attendance

First Name Last Name Organization e-mail IBM Research Lab Amnon Shabo [email protected] in Haifa Intermountain Grant Wood [email protected] Healthcare Kaiser Joann Larson [email protected] Permanente Joyce Hernandez Merck & Co. [email protected] Siemens Marta Jaremek [email protected] Healthcare Harvard-Partners Center for Mollie Ullman-Cullere [email protected] Genetics and Genomics Scott Bolte GE Healthcare [email protected]

Phil Pochon Covance [email protected] Kaiser Allen Hobbs [email protected] Permanente Rosetta Michael Miller - Biosoftware

HL7 CG SIG meeting minutes 1 for more information contact [email protected] I. Agenda

Development of the Domain Analysis Model (DAM)

During the HL7 WGM in Phoenix it was decided to create a DAM. Perry Mar - volunteered to work on the conversion of DMIM into a DAM. CG needs some feedback from Perry about the DMIM-DAM progress. Amnon – is in close contact with VA. They have been working on genetic information and currently, they are also piloting the DAM. The DAM created by VA might be used by CG.

Discussion Phil/Amnon : Do we need a project scope statement for developing the DAM? Will the DAM be an independent ballot document?

Genetic Variation Storyboards

Review of the Genetic Variation Storyboards prepared by Phil. Storyboards discussed: - Non-Small Cell Lung Cancer (NSCLC) Drug Responsiveness (Tyrosine Kinase inhibitors) - Pharmaceutical Research Cytochrome P450 Drug Metabolism Analysis

Discussion on Lab results in the storyboards : a) Mollie – pointed out that the storyboards are giving too much flexibility in the Lab result data. She says, that for clinical practice the data must be more constrained. Mollie requested to have storyboards covering both the research and clinical realm. The NSCLC use case covers the clinical practice, the Cytochrome P540 is research-based. Conclusion : Mollie will help develop a storyboard for the Cytochrome P540 from the clinical practice.. b) What type of data are we referring to? What type of data are we going to constrain - The full-blown lab results generated by the lab technician or results in the results report ? For the clinical use case we also need the interpretation of lab results, the test being performed etc. Conclusion : Describe the full-blown lab results in the 4th bullet and add a 5th bullet or 6th bullet describing the report, test interpretation, coded test, etc.. Mollie – will help model this section. c) How should the format be represented in the storyboard? As a separate data section or interwined with the steps in the storyboard? Drawing an analogy between HL7 LAB storyboards and HL7 CG storyboards. Conclusion : Mollie and Phil will work on this.

HL7 CG SIG meeting minutes 2 for more information contact [email protected] Action items from the discussions: Mollie – will work on the clinical use cases Mollie/Phil – work and agree on the storyboard format Mollie – will update chapter 9 in the IG Phil – will reshape the first storyboard on NSCLC Phil - will begin assembling a glossary matching our storyboards, as soon as Mollie gives him an update of her clinical-based storyboards

Genetic Variation Walk-Through

Phil – presented a modified form of the Genetic Variation Walk-Through.

Topic discussed: a) Do we want to have a walk-through at the attribute level or do we want to have a walk-through going down the main Act class-bone? Amnon - the HL7 requires a walk-through at the attribute level. He suggests to take the contents from chapter 5 in the IG and add it to the PubDB as a walk-through. Joann/Phil - the walk-through shall be more general, whereas the IG should contain more specific information. Amnon – The walk-through in the PubDB should closely follow the IG. Redundancy between the IG and the ballot document allows that the IG can be maintained as a stand- alone document. Advantage : reviewers of the IG do not have to read through the HL7 html sites. Conclusion : Phil - will get the current structure of the Genetic Variation walk-through described in chapter 5 of the IG and insert a table of attribute details underneath each section.

II. Other topics

The notion of “Committee level ballot” is non-existent. There was a change in HL7 terminology. The current HL7 CG documents will be balloted at the normative level.

HPCCG is still working on the HL7 V2 IG, it should be out for review in about week and a half. III. Next conference call

The next conference call is scheduled for July 8th, 2008.

HL7 CG SIG meeting minutes 3 for more information contact [email protected] IV. Next meeting´s agenda

 Walk-through of the Gene Expression Project Proposal – Joyce Hernandez  Genetic Variation Walk-though - modified version  Genetic Variation Storyboards – modified version

HL7 CG SIG meeting minutes 4 for more information contact [email protected]