CG
Main Page | Clinical Genomics (CG)
This page is for the Clinical Genomics Work Group
Contents
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 EST. Phone Number: +1 770-657-9270 Participant Passcode: 941378
WebEx meeting link for the Tuesday 11 AM EST call is https://intermountainmeetings.webex.com/intermountainmeetings/j.php?J=627819939.
If the default WebEx link does not work, please try the following: https://www.lotuslive.com/join?schedid=1136358
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.
- 2014 Sep - Chicago, MI
- 2014 May - Phoenix, AZ
- 2014 January - San Antonio, TX
- 2013 September - Cambridge, MA
- 2013 May - Atlanta, GA
- 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
- Older conference call minutes have been uploaded to the clinical genomic document repository on the main HL7 site.
CG Projects
Family History - Pedigree
GTR - CDA Implementation Guide for Genetic Testing Report
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.
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 theHL7 website - CG docs
CG 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
Clinical Genetic/Genomic Standards
HL7 IG for CDA R2: Genetic Testing Reports, Release 1 - GTR
HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 2
HL7 Version 2 Implementation Guide: Clinical Genomics; fully LOINC-Qualified Cytogenetic Model, Release 1
Working Group Meetings
CG Working Group Meeting Agendas
CG Working Group Meeting Minutes
Sub-Teams
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/
