Clinical Genomics


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Below is a list of the current projects this work group is sponsoring. Visit Project Insight to see the full project details. Visit the searchable project database to find projects sponsored by other work groups.

1-14 of 14
Num Name
Sponsor(s)/
Co-Sponsor(s)
Description Project Facilitator
SD
Approval
Date
TSC
Approval
Date
Status
852
Pedigree R1 Reaffirmation Sponsor(s):
Clinical Genomics Work Group
Pedigree R1 was approved in 2007 and this project is about a reaffirmation ballot in May 2012, following ANSI rules. Amnon Shabo Awaiting Approval Awaiting Approval Active Project (Resources assigned to pjt)
844
Family Health History and Pedigree standard, Release 2 Sponsor(s):
Clinical Genomics Work Group
This project will use the current Pedigree model and documentation as a starting point. From here the following extensions/enhancements will be made: - Extend examples to support additional inheritance patterns - Improve implementation guidance as part of. . . Grant Wood Jan 16, 2012 Awaiting Approval Active Project (Resources assigned to pjt)
841
Clinical Sequencing Sponsor(s):
Clinical Genomics Work Group
Clinical Sequencing use cases, storyboards, and sample data will be used to understand the requirements and develop the standard accordingly. Phase I: Model the results and methods in the larger Clinical Genomics Domain Analysis Model. To mitigate risk an. . . Daryl Thomas Jan 16, 2012 Awaiting Approval Active Project (Resources assigned to pjt)
752
Publish CDA IGs from Tooling Sponsor(s):
Structured Documents Work Group

Co-Sponsor(s):
Clinical Genomics Work Group, Publishing Work Group, Tooling Work Group
The scope of this project is to expand the CDA Template Tooling Project to facilitate the easy production of quality CDA Implementation Guides (IGs). The Model Driven Health Tools (MDHT) and Structured Modeling Development (SMD) tools will be evaluated fo. . . Pete Gilbert Dec 22, 2010 Jan 8, 2011 Active Project (Resources assigned to pjt)
729
Canonical Pedigree (Family History) Interoperability Implementation Guide Sponsor(s):
Clinical Genomics Work Group
The Canonical Pedigree Project (CPP) was proposed and approved at the HL7 Phoenix meeting of the Clinical Genomics work group in January, 2010. It is intended to improve adoption of the standard V3 pedigree message. It has three aspects: - Reference Pedig. . . Scott Bolte Dec 22, 2010 Jan 8, 2011 On Hold
705
HL7 CG- omics Domain Analysis Model Sponsor(s):
Clinical Genomics Work Group
This is the - OMICS Domain Analysis Model project. This model will be used to develop our informational requirements for CMETs that support several - omics technology or specialty areas such as genetic variation, gene expression, proteomics, viral genetics, . . . Joyce Hernandez; Philip M. Pochon Feb 4, 2011 Feb 14, 2011 Active Project (Resources assigned to pjt)
693
Clinical Genomics - Genetic Variation (CMET) Sponsor(s):
Clinical Genomics Work Group
The proposed project is intended to be a new Normative Topic under the Clinical Genomics (CG) Domain of the HL7 V3 Ballot Package. The intent of the CG group is to develop a Genetic Variation result CMET as a normative standard to be used by other message. . . Rick Haddorff Jul 9, 2010 Aug 2, 2010 Active Project (Resources assigned to pjt)
692
Clinical Genomics - Genetic Variation (Fully LOINC- Qualified Genetic Variation Model) Sponsor(s):
Clinical Genomics Work Group

Co-Sponsor(s):
Orders and Observations Work Group
To foster early utilization of genomic data in HL7 v2 messaging and meet clinical needs in this emerging field, the CG group will create an HL7 v2 laboratory message which supports the transmission of genetic data for use in clinical laboratory reporting . . . Rick Haddorff Jul 9, 2010 Aug 2, 2010 Informative - Balloting
663
Cytogenetic Lab Results Sponsor(s):
Clinical Genomics Work Group
The study of chromosomes and their abnormalities is known as cytogenetics. Chromosome analysis, or karyotype, refers to the ordered pairing of homologous chromosomes. Chromosome abnormalities constitute a major category of medical genetic disorders. In a . . . Yan Heras Dec 19, 2011 Jan 9, 2011 Informative - Balloting
565
Specimen Handling CMET Sponsor(s):
Clinical Genomics Work Group
Specimen Handling CMET Clinical Genomics WG Cochairs Awaiting Approval Awaiting Approval 3-Year Plan Item
564
Connection with Decision Support Sponsor(s):
Clinical Genomics Work Group
Definition of Decision Support Service Clinical Genomics WG Cochairs Awaiting Approval Awaiting Approval 3-Year Plan Item
479
Health Informatics: Clinical Genomics Pedigree Topic (ISO Ballot Project) Sponsor(s):
Clinical Genomics Work Group
This document contains the specifications for the representation and exchange of structured family health history. Ed Hammond; Jill Kaufman; Amnon Shabo Mar 30, 2009 Mar 30, 2009 Active Project (Resources assigned to pjt)
460
CDA Implementation Guide for Genetic Testing Reports Sponsor(s):
Clinical Genomics Work Group
In this project, the Clinical Genomics and Structured Documents Work Groups will jointly develop a CDA Implementation Guide (IG) for genetic testing reports. Genetic tests have recently become an important tool in clinical care that further personalizes t. . . Amnon Shabo Feb 24, 2009 Jun 1, 2009 DSTU - Reconcile
333
Gene Expression Sponsor(s):
Clinical Genomics Work Group
In this project, the Clinical Genomics Work Group will focus on the development of a static data structure (e. g. CMET) for communicating individual subject (i. e. both animal and human) genetic testing results from testing using gene expression technology. . . . Joyce Hernandez Jan 27, 2009 Feb 9, 2009 Informative - Reconcile
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