Product CG IG

Product Brief - Clinical Genomics Genotype

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Product Name

Clinical Genomics Genotype

Topics

Clinical Genomics Genotype

Standard Category

Health Information Exchange Standards

Integration Paradigm

Messaging

Type

Normative, ANSI Standard

Releases

• HL7 V3 CG_GENO,R1, July 2008

Summary

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.

Description

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).

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.

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.

Business Case (Intended Use, Customers)

• 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.

Resources

Work Groups

• Clinical Genomics

Education

• See more at http://hl7new.amg-hq.net/implement/training.cfm

Certification Available

• none