CG

Main Page | Clinical Genomics (CG)

This page is for the Clinical Genomics Work Group

Mission and Charter

Mission

This group supports the HL7 mission to create and promote its standards by enabling the communication between interested parties of the clinical and personalized genomic data. The focus of clinical genomics work is the personalization (differences in individual's genome) of the genomic data and the linking to relevant clinical information.

This Work Group will facilitate the development of common standards for clinical research information management across a variety of organizations -- including national and international government agencies and regulatory bodies, private research efforts, and sponsored research -- and thus the availability of safe and effective therapies by improving the processes and efficiencies associated with regulated clinical research.

Charter

Work Products and Contributions to HL7 Processes

The Work Group will collect, review, develop and document clinical genomics use cases in order to determine what data needs to be exchanged. The WG will review existing genomics standards formats such as BSML (Bioinformatics Sequence Markup Language), MAGE-ML (Microarray and Gene Expression Markup Language), LSID (Life Science Identifier) and other. This group will recommend enhancements to and/or extensions of HL7's normative standards for exchange of information about clinical genomic orders and observations.

In addition, Clinical Genomics will seek to assure that related or supportive standards produced by other HL7 groups are robust enough to accommodate their use in both research and clinical care use. The group will also monitor information interchange standards developed outside HL7, and attempt harmonization of information content and representation of such standards with the HL7 content and representation.

Formal Relationships with Other HL7 Groups

This Work Group will coordinate with a large number of other Work Groups in order to accomplish its mission. Strongest relationships will be with:

• Orders and Observation
• Clinical Statement
• Clinical Decision Support
• Regulated Clinical Research Information Management
• Orders and Observations
• Patient Care
• Electronic Health Records
• Modeling and Methodology
• Structured Documents

Decision Making

See Work Group Decision Making Documents[1] (Date of Last Revision: Final March 2, 2009)

Conference Calls, Agendas and Minutes

Web and Teleconference(default)

WebEx meeting link for the Tuesday 11 AM EST call is https://intermountainmeetings.webex.com/intermountainmeetings/j.php?J=626592744.

If the default WebEx link does not work, please try the following: https://www.lotuslive.com/join?schedid=1136358

NOTE: We sometimes schedule calls at noon US Eastern Time to work on project specific items. These special calls will also be listed in the Conference Call page as well.

Current Conference Call Agendas and Minutes

Conference call agendas and minutes leading up to the next HL7 Work Group Meeting are kept on this page: Conference Calls.

Conference Call Archive

Conference call minutes are partitioned into separate pages chronologically by work group meeting.

• 2012 September - Baltimore, MD
• 2012 May - Vancouver, BC
• 2012 January - San Antonio, TX
• 2011 September - San Diego, CA
• 2011 May - Lake Buena Vista, FL
• 2011 January - Sydney, Australia
• 2010 October - Cambridge, MA
• 2010 May - Rio de Janeiro, Brazil
• 2010 January - Phoenix, AZ
• 2009 September - Atlanta, GA
• 2009 May - Kyoto, Japan
• 2009 January - Lake Buena Vista, FL
• 2008 September - Vancouver, B.C., Canada
• 2008 May - Phoenix, Arizona
• 2008 January - San Antonio, TX
• 2007 September - Atlanta, GA
• 2007 May
• 2007 January
• 2006 September
• 2006 May
• 2006 January

CG Projects

Family History - Pedigree

• Family Health History Overview
• Project: Family History-Pedigree Implementation Guide

Models - Domain Information and Domain Analysis

This effort is still ongoing, currently focused on the Domain Analysis Model for Clinical Genomics. This effort is still ongoing, currently focused on the Domain Analysis Model for Clinical Genomics.

GTR - CDA Implementation Guide for Genetic Testing Report

The GTR home page

Genotype Topic

This approved DSTU spec has been deprecated and several portions of it are under normative ballot as CMETs (e.g., Genetic Variations CMET).

Genetic Variation

This CMET standard (component model that can be used in other models) has passed normative ballot by the numbers but is still under ballot reconciliation.

Gene Expression

This CMET stanadard is under development and will most likely be balloted in 2012.

Sub-Teams

• CG Vocabulary
• Canonical Pedigree Project

Domains

Clinical Genomics

Clinical Genomics Facilitators

Modeling:

Amnon Shabo
shabo@il.ibm.com
IBM Research Lab in Haifa

Publishing:

Grant Wood
Grant.Wood@imail.org
Intermountain Healthcare

Vocabulary:

Joyce Hernandez
joyce_hernandez@merck.com

Standards

HL7 CGPED, R1-

HL7 Version 3 Pedigree Topic - Family History

Last Ballot: Normative Ballot 1 - May, 2007

HL7 CG_GV, R1

HL7 Version 3 Standard: Genetic Variation, Release 1

Last Ballot: Normative Ballot 2 - January 2009

HL7 IG CG_GENO, R1

HL7 Version 3 Genotype, Release 1

Last Ballot: DSTU Ballot 1 - January 2009

HL7 IG LOINCGENVA, R1

HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 1 (US Realm)

Reference Links

BRIDG file release site http://gforge.nci.nih.gov/frs/?group_id=342

BRIDG Project site http://gforge.nci.nih.gov/projects/bridg-model/