HL7 Clinical Genomics SIG Conference Call Meeting Minutes August 26, 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 Joyce Hernandez Merck & Co. [email protected] Siemens Marta Jaremek [email protected] Healthcare Harvard-Partners Center for Mollie Ullman-Cullere [email protected] Genetics and Genomics

Rick Haddorff Mayo Clinic [email protected]

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

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

Finalizing the agenda for the Vancouver WGM a) Planning a discussion with Keith Boone on CG data models

Mollie – received input from Keith regarding the conversation on data models during the September WGM. Keith´s availability is : Wed Q4 or Thur Q2 for 30 min. Phil – is the time slot for Keith on Thur Q2 enough for us? Otherwise we need to split the Wed Q4 session with Clem. Conclusion : Have a 30 min session with Keith and set up a date and time for follow-up meetings. Discussion needs to happen with Grant present representing the provider side. Grant will also present a roadmap how we can proceed with the incorporation of genetics and pedigree information in the CCD.

Action item : Define discussion topics for the 30 min discussion with Keith Boone. The current bullet points are:  System to system interactions of genetic data  Planning for Pedigree in the CCD model  Relation of Genetic Variation Model to the CCD Model b) Discussion on the need of CG data models for CCD

Amnon – emphasized that CCD is not the only way to exchange clinical data and in fact its resolution is mainly summative. In addition, on the technical side - Bboth CCD and the CG Pedigree Model are based on HL7 V3, therefore. I implementers of clinical record systemsCCD shall notshouldn’t have difficulties to implement the Pedigree Model accordinglyas both are based on the v3 Foundations (same reference information model, data types and vocabularies). Pilots run byEvaluation carried out by Amnon and Kevin Hughes showed that CDACCD was not appropriate enough to represent family history for structured pedigree and genetic information exchange (e.g., mother and father ids for each relative). This was the motivation to develop the Pedigree model. Incorporating it into a ‘wrapper’ CCD makes a lot of sense and should be considered by HITSP.

Mollie – HITSP is pointing to CCD. CCD will be the standard required for exchanging clinical data in the infrastructure in the US. c) Vocabulary

Wed Q4 : - add bullet point on anatomical location vocabulary (Joyce Hernandez) - start a discussion on pre-LOINC review processes: test codes for gene expression : identify the issues? Who are the players? What are the needs from the clinical practice side and research side ?

HL7 CG SIG meeting minutes 2 for more information contact [email protected] Mollie will send out a copy of a submission spreadsheet they use for vocabulary submission to LOINC.

d) Gene Expression Project

We need to get the final draft of the project charter by next week. Mollie – will help provide clinical examples for the gene expression project use cases.

Action item : Phil will send an e-mail to Mollie describing what all we need from the clinical side on gene expression.

Rick volunteered to help with the Gene Expression Project. e) Genetic security discussion

Wed Q3 : add a bullet point for a short discussion on security of genetic information

Action item : Phil – will send the final agenda to Amnon. Amnon will forward it to HL7.

Conference Call adjourned at 10:09 a.m. EST. by Phil Pochon.

II. Next conference call

The next conference call is scheduled for September 2nd, 2008.

III. Next meeting´s agenda

 Finalize the agenda for Thu Q2 discussion with Keith Boone

HL7 CG SIG meeting minutes 3 for more information contact [email protected]