HL7 Clinical Genomics WG
Joint Conference Call
Clinical Genomics / Clinical Statement
Meeting Minutes
05-May-2009
Attendees : Hans Buitendijk, Amnon Shabo, Rik Smithies, Kevin Hughes, Ingeborg Holt, Scott Bolte, Mollie Ullman, Michael Miller, Allen Hobbs, Grant Wood, Kevin Coonan, Marta Jaremek
Note Takers: Hans Buitendijk
Last Meeting’s Minutes
• Motion to accept with changes. Kevin Hughes, Kevin Coonan.
o Against: 0; Abstain: 0; In Favor: 10.
CDA Implementation Guide Project Statement.
• Amnon reviewed the updates to the project statement.
o [pic]
• Motion to approve. Amnon Shabo, Kevin Hughes.
o Against: 0; Abstain: 0; In Favor: 11
Background Documents
• The following documents have been used through the discussion so far. The minutes will contain the most current version as of the end of the meeting for easy reference.
• Sample Pedigree messages: [pic] [pic] [pic]
• CS-CG Model Comparison: [pic][pic]
• V2.5.1 CG Implementation Guide: [pic]
• Current CS structure: [pic]
• After inclusion of Pedigree family tree (first draft): [pic]
V2.5.1 CG Implementation Guide
• Molly Ullman reviewed the V2.5.1 CG Implementation Guide to highlight how the basic structure is represented in OBR/OBX sets, and how LOINC was used to establish appropriate panels.
• There were no major challenges to represent the targeted subset in V2.5.1,
• While on the one hand that indicates that Clinical Statement should be able to handle this as well, on the other hand the V3 genetic models intent to cover more. I.e., we cannot conclude yet that CS can handle the V3 genetic models, but should be able to at least cover the scope in the Implementation Guide.
• Additionally, Molly stepped through the attached example in spreadsheet format.
o [pic]
CS-CG Comparison
• Hans Buitendijk summarized the available comparison between Clinical Statement and the Genotype Topic.
• Amnon Shabo indicated that it would be better to compare with the Genetic Variation Topic’s RMIM.
• Hans will update the spreadsheet accordingly (add another Tab)
• Amnon will then insert initial comments from a CG perspective to clarify the differences.
Next meeting we will continue with:
• Summary of CG model and CS model
• Review of Genetic Variation vs Clinical Statement
o We will use the spreadsheet and the V3 May Ballot Materials to jump back-and-forth.
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