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Main Page | Clinical Genomics (CG)

This page is for the Clinical Genomics Work Group

Mission and Charter


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.


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 EST.
  • Please use voice options (including VOIP) provided through Zoom
  • Zoom

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: CG_WG_Call_Notes_leading_to_2017_September_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

Family History - Pedigree

GTR - CDA Implementation Guide for Genetic Testing Report

The GTR home page

Clinical Sequencing Domain Analysis Model Project aka Clinical Sequencing Project

Domain Analysis Model, focusing on the clinical sequencing use case, balloted in September 2014 as Informative. This material will be combined with the Clinical Genomics Domain Information Model and balloted together in January 2014 as the Clinical Genomics Domain Analysis and Information Models. Ongoing project documentation on the main HL7 site

Clinical Genomics Domain Information Model(s) Project

This project focuses on developing agreed-upon Clinical Genomics Domain Information Model(s) that are independent of any specific HL7 flavor of standards, and thus could serve as the source of semantics of all existing and future HL7 Clinical Genomics standards.

Clinical Genomics FHIR Profile for Genetic Observation

This work will extend the current FHIR Observation for support of reporting clinical genetic and genomic findings. Ongoing project documentation on the main HL7 site

Current Clinical Genomic Standards

Family History Standards

Reaffirmation of HL7 V3 Standard: Clinical Genomics; Pedigree, R1

Version 3 Standard: Clinical Genomics; Pedigree, Release 1
Reaffirmation Ballot - 2012
Normative Ballot 1 - May, 2007

HL7 V3 IG: Canonical Pedigree (Family History) Interoperability, R1

Version 3 Implementation Guide: Family History/Pedigree Interoperability, Release 1

Clinical Genetic/Genomic Standards

HL7 IG for CDA R2: Genetic Testing Reports, Release 1 - GTR

Implementation Guide for CDA® Release 2: Genetic Testing Reports, Release 1

HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 2

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

HL7 Version 2 Implementation Guide: Clinical Genomics; fully LOINC-Qualified Cytogenetic Model, Release 1

Version 2 Implementation Guide: Clinical Genomics; fully LOINC-Qualified Cytogenetic Model, Release 1 (US Realm)

Working Group Meetings

CG Working Group Meeting Agendas

CG Working Group Meeting Minutes



Clinical Genomics

Clinical Genomics Facilitators


Amnon Shabo
University of Haifa


Grant Wood
Intermountain Healthcare


Past facilitators: Joyce Hernandez, Yan Heras

Archived Standards


HL7 Version 3 Standard: Genetic Variation, Release 1
Last Ballot: Normative Ballot 2 - January 2009


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

BRIDG Project site

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