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Difference between revisions of "Product CG IG"

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m (Product CG GENO moved to Product CG IG: combine topics under domain; rename this page to hold IG info)
 
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==Product Brief - Clinical Genomics Genotype==
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==Product Brief - Clinical Genomics V2 IG Genetic Variation==
 
back to [[Main_Page]]
 
back to [[Main_Page]]
 
===Product Name===
 
===Product Name===
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Clinical Genomics Genotype
+
HL7 Version 2 Implementation Guide: Clincial Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 1 (US Realm)
  
 
===Topics===
 
===Topics===
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Clinical Genomics Genotype
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Genetic Variation
 +
Genotype Topic
 +
 
 
===Standard Category===
 
===Standard Category===
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Health Information Exchange Standards
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Implementation Guide
 
===Integration Paradigm===
 
===Integration Paradigm===
 
Messaging
 
Messaging
 
===Type===
 
===Type===
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Normative, ANSI Standard
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Informative
 
===Releases===
 
===Releases===
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*HL7 V3 CG_GENO,R1, July 2008
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Clinical Genomics Genotype; HL7 IG LOINCGENVA, R1-2009
  
 
===Summary===
 
===Summary===
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The Clinical Genomics Work Group CGWG also developed the Pedigree Topic, which includes the Family History Model, which describes a patient’s pedigree with genomic data. This model utilizes the Genotype www.HL7.org models (e.g., GeneticLocus) to carry the genomic data for the patient’s relatives. The requirement for an elaborated Clinical Genomic Family History Model was identified while working on the Breast Cancer Storyboard as part of the effort to develop the Genotype Topic. The CGWG recognizes it as key to the utilization of these standards as well as for personalized healthcare in general.
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Supports the transmission of clinical genetic test results using a 2.5.1 lab message (from the lab to the medical record)
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===Description===
 
===Description===
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Since its formation, the HL7 Clinical Genomics Work Group (CGWG) has worked to develop HL7 Version 3 standards (and recently Version 2 implementation guides) to enable the exchange of interrelated clinical and personalized genomic data between interested parties. In many cases, the exchange of genomic data occurs between disparate organizations (healthcare providers, genetic labs, research facilities, etc.). Therefore, acceptable standards are crucial for the usefulness of genomic data in healthcare practice. We envision that the use of genomic data in healthcare practice will become ubiquitous. Today, there are already several examples of the use of genomic data in healthcare and a few of them are presented in detail in the HL7 specifications’ storyboards (e.g., Genetic Testing, Pharmacogenomics, Tissue Typing and more).
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Structured clinical genetic test results are key for clinical decision support, augmentation of patient data in clinical data warehouses, research studies, clinical trials, etc…  this uses models for stablished standards for transmission of laboratory test results for transmission of genetic test results.  
 +
===Business Case (Intended Use, Customers)===
 +
Medical Record, Testing Laboratories, and Clinical Research
  
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Within the Version 3 Clinical Genomics Domain, the CGWG first developed the Genotype Topic, which includes the core models of representing genomic data associated with phenotypic data such as clinical observations. The Genotype Topic was approved as a Draft Standard for Trial Use (DSTU) in 2005. The CGWG plans to progress the Genotype Topic DSTU to become a normative standard in a step-based approach beginning with an implementation guide for genetic variation. This implementation guide can be found in the Version 3 Clinical Genomics Domain as a new topic. In addition, an HL7 Version 2 Implementation Guide for Genetic Variation which aligns with the Version 3 models is now being balloted. This guide focuses on conveying genetic testing results based on existing Version 2 messaging.
 
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The core model in the Genotype Topic is the GeneticLocus model. It consists of various types of genomic data relating to a specific DNA locus, including sequencing, expression and proteomic data. Common bioinformatics markups representing raw data received from genomic facilities are utilized within the GeneticLocus model in a seamless way to the user. This enables the encapsulation of raw data such as full sequencing or gene expression along with bubbling-up the most clinically significant data to be associated with phenotypic data by decision support applications. Examining and constraining bioinformatics markups is an ongoing process involving collaboration with the bioinformatics communities.
 
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===Business Case (Intended Use, Customers)===
 
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*The domain of family health history is a convergence point of EHR, PHR and Genomics in a way that enables clinical decision support (CDS) applications to run effectively, in particular when it comes to prevention and early detection of hereditary disease.
 
−
*
 
 
===Benefits===
 
===Benefits===
−
*
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*Main benefit is to users already using v2, to have an implementation guide for a known specification in lab messaging, for genetic variation testing results, not just any area on genomics - specific to genetic variation.
−
*
 
  
 
===Implementations/ Case Studies (Actual Users)===
 
===Implementations/ Case Studies (Actual Users)===
 
*
 
*
−
*
 
−
 
 
===Resources===
 
===Resources===
  
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====Presentations====
 
====Presentations====
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*
+
*ambassador presentation (Grant Wood)
 +
 
 +
===Relationship to/ Dependencies on, other standards===
 +
*HL7 V2.5.1 Laboratory Result Implementation Guide, SNOMED, RxNORM, and LOINC
  
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====Relationship to/ Dependencies on, other standards====
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===Links to current projects in development===
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*
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*[http://www.hl7.org/special/Committees/projman/searchableProjectIndex.cfm?action=edit&ProjectNumber=196 Project Insight ID # 196], Genetic Variation
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====Links to current projects in development====
 
−
*
 

Latest revision as of 19:05, 16 October 2009

Product Brief - Clinical Genomics V2 IG Genetic Variation

back to Main_Page

Product Name

HL7 Version 2 Implementation Guide: Clincial Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 1 (US Realm)

Topics

Genetic Variation Genotype Topic

Standard Category

Implementation Guide

Integration Paradigm

Messaging

Type

Informative

Releases

Clinical Genomics Genotype; HL7 IG LOINCGENVA, R1-2009

Summary

Supports the transmission of clinical genetic test results using a 2.5.1 lab message (from the lab to the medical record)

Description

Structured clinical genetic test results are key for clinical decision support, augmentation of patient data in clinical data warehouses, research studies, clinical trials, etc… this uses models for stablished standards for transmission of laboratory test results for transmission of genetic test results.

Business Case (Intended Use, Customers)

Medical Record, Testing Laboratories, and Clinical Research

Benefits

  • Main benefit is to users already using v2, to have an implementation guide for a known specification in lab messaging, for genetic variation testing results, not just any area on genomics - specific to genetic variation.

Implementations/ Case Studies (Actual Users)

Resources

Work Groups

Education

Certification Available
  • none

Presentations

  • ambassador presentation (Grant Wood)

Relationship to/ Dependencies on, other standards

  • HL7 V2.5.1 Laboratory Result Implementation Guide, SNOMED, RxNORM, and LOINC

Links to current projects in development

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