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CG

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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
  • Anatomic Pathology
  • Image Integration
  • Clinical Statement
  • Clinical Decision Support
  • Patient Care
  • Electronic Health Records
  • Modeling and Methodology
  • Structured Documents

Formal Relationships with Groups Outside of HL7

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)

The weekly calls are on on Tuesday's at 11 US Eastern Time.

Minutes: https://docs.google.com/document/d/12-uBrMmav71a3_c9h_FXQteJo_I5Kt72NEBYXZuwhFg/edit

Join the online meeting (VoIP available with this):

Online Meeting Link:

Online Meeting ID:

  • hl7cgchairs

Dial into the conference: Dial-in Number: (563) 999-1048 - United States

Access Code: 201608

International Dial-in Numbers: https://www.freeconferencecall.com/wall/hl7cgchairs/#international

Current Conference Call Agendas and Minutes

Conference call agendas and minutes leading up to the next HL7 Work Group Meeting

Jan 27 - Feb 2: January 2018 Working Group Meeting (New Orleans, LA USA)

CG_WG_Call_Notes_leading_to_2018_January_WGM.

Conference Call Archive

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

Older conference call minutes have been uploaded to the clinical genomic document repository on the main HL7 site.

Active CG Projects

All active projects can be viewed here:

https://www.hl7.org/Special/committees/clingenomics/projects.cfm

Archive:

CG Project Archive

Current Clinical Genomic Standards

All active CG standards and products are here:

https://www.hl7.org/Special/committees/clingenomics/products.cfm

CG Standards Archive

Working Group Meetings

CG Working Group Meeting Agendas

CG Working Group Meeting Minutes

Sub-Teams

  • FHIR

https://docs.google.com/document/d/1FGCQRtxJKyHhnC1uB_t4sJZ9yXbLMGOqPXHPr5tSLLQ/edit#heading=h.zfi9l8jfe4la

  • Modeling

https://docs.google.com/document/d/18sVxZdAeA98ok5hdGwmmVxVinTq_vAT9B-Z8GIAyRiM/edit

CG Subteam Archive

Domains

Clinical Genomics

Clinical Genomics Facilitators

Modeling: 

Amnon Shabo
amnon.shvo@gmail.com
University of Haifa

Publishing: 

Grant Wood
Grant.Wood@imail.org
Intermountain Healthcare

Vocabulary: 

Past facilitators: Joyce Hernandez, Yan Heras


Archived Standards

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

Archived Work

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 component model (CMET) was under development as normative standard and passed ballot by the numbers but has not been published and the effort is frozen at this time.

Gene Expression

This component model (CMET) was under development in 2011 but the effort is frozen at this time.

Models - Domain Information and Domain Analysis

This specific work has rolled into other work group efforts.

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/

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