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

Tuesday's at noon US Eastern Time

Phone Number: 770-657-9270 / Participant Passcode: 941378

Default web meeting:

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To join the online meeting (Now from iPhones and other Smartphones too!)

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1. Go to https://dfci.webex.com/dfci/j.php?ED=142620047&UID=0&PW=NODc2OTNmMGQ1&RT=MiMxMQ%3D%3D 2. Enter your name and email address. 3. Enter the meeting password: genomics 4. Click "Join Now".

Check out the specific conf. call to see if there is a differnet web meeting for that call.

• Conference Calls

NOTE: Periodically we may schedule a call for 11:00 AM US Eastern Time to work on project specific items. These special calls will also be listed in the Conference Call page as well.

CG Projects

• Family History - Pedigree
• Models - Domain Information and Domain Analysis
• Genotype Topic
• Genetic Variation
• Gene Expression

Family Health History Overview

Family Health History Overview

Working Group Meetings

CG Working Group Meeting Agendas

Working Group Meeting Minutes

CG Working Group Meeting Minutes

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/