HL7 Clinical Genomics SIG

Meeting Minutes

October 2, 2002 9am – 12:30pm

Baltimore, Maryland

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

Scott Whyte
Cap Gemini Ernst & Young
Phone: (602) 452-8082
/ Jill Kaufman, PhD
IBM Life Sciences
Phone: (201) 447-0227

Attendance

First Name / Last Name / Organization / Email
Susan / Bassion / CDISC /
Ken / Buetow / NCI /
John / Fetvedt / IBM Life Sciences /
Jim / Fry / InfoSystems Management /
Rick / Haddorff / Mayo Clinic /
Masaaki / Hirai / Nihon Kohden /
Hiro / Hoshimoto / University of Tokyo /
Jill / Kaufman / IBM Life Sciences /
Gou / Masuda / Osaka Medical College /
Richard / Mushlin / IBM Research /
Manish / Narang / Johnson & Johnson /
Linda / Quade / Eli Lilly & Co. /
Chuck / Roberts / IBM /
Amnon / Shabo / IBM Research, Haiffa, Israel /
Sadamu / Takasaka / NEC Soft /
Barbara / Tardiff / CDISC, Regeneron Pharm /
Gavin / Tong / Canadian Institute for Health Information /
Robert / Uleski / Robert Uleski Consulting /
Scott / Whyte / CGEY /

Introductions/Welcome

Scott and Jill welcomed the attendees to this first meeting of the Clinical Genomics SIG. Each attendee provided an introduction. Scott explained that the Technical Steering Committee (TSC) approved the formation of the Clinical Genomics SIG on Monday, September 30, 2002.

“Clinical Genomics - delivering on the promise from bench to bedside”

Kenneth H. Buetow, Ph.D, Director at the National Cancer Institute, Center for Bioinformatics (NCICB), delivered a presentation on the clinical and information technology issues related to clinical genomics. Ken emphasized NCI’s interest in using HL7 messages to gather data for NCICB’s caCORE informatics infrastructure backbone.

Use Cases

Richard Mushlin, IBM Life Sciences, presented the BRCA Typing Use Case.

Amnon Shabo, IBM Research, Haiffa, introduced the Tissue Typing Use case.

Related HL7 Committees

The Clinical Genomics (CG) SIG is sponsored by the Orders and Observations Technical Committee. The CG SIG will need to work closely with other HL7 committees and outside standards groups.

  • Regulated Clinical Research Information Management (RCRIM) Technical Committee - Barbara Tardiff, co-chair, presented information on RCRIM’s mission, charter and current initiatives and discussed how RCRIM relates to the CG SIG.
  • Clinical Data Interchange Standards Consortium (CDISC) - Susan Bassion of CDISC discussed CDISC efforts. She noted that 80% of clinical trial data is laboratory data and that CDISC has developed a model for handling lab data. Publishing CDISC lab standard is scheduled for October 2002 and the goal is to ballot HMD HL7 in January 2003 (CDISC differences include SAS, ASCII and XML – HL7 focused on XML). CDIS was modeled using the HL7 RIM.
  • Laboratory, Automated and Point of Care Testing (LAPOCT) SIG Manish Narang, co-chair, presented information on LAPOCT’s mission, charter and current initiatives and discussed how LAPOCT relates to the CG SIG.

Emerging Genomic Standards

Jill discussed landscape of standards organizations focused on creating specification in life sciences related areas. Some of the specification of interest include: MAGE-ML (Microarray and Gene Expression Markup Language) and LSID (Life Science Identifier).

Review Mission and Scope

Scott displayed the mission and charter approved by the TSC. There was discussion on initial CG SIG workplan.

Tasks, responsibility and assignments

  • Scott to document meeting minutes
  • Presenters (Ken, Barbara, Richard, Amnon, Manish, Jill) to submit presentations to Scott
  • Jill to initiate CG SIG web site with Charter, Scope, meeting minutes and presentations
  • Scott and Jill to draft workplan and prepare for January, San Antonio meeting.