TSC Product List CGPED
Contents
Product Brief - Clinical Genomics Standards
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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).
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.
Pedigree Topic
Type
Normative, ANSI Standard
Releases
- ANSI/HL7 V3 CGPED, R1-2007
Summary
The HL7 Clinical Genomics Pedigree Topic includes the Family History Model describing a patient’s pedigree with genomic data. It has the ability to transmit complete family history information for clinical decision support. This model is ANSI-approved and is the HITSP-accepted standard. This standard allows EHR/PHR interoperability, and is in use by the Surgeon General in his family history collection website: My Family Health Portrait. It is also in the process of becoming of an international standard through ISO.
Description
The Clinical Genomics Work Group CGWG also developed the Pedigree Topic, which was approved by ANSI in July 2007. The Pedigree Topic includes the Family History Model, which describes a patient’s pedigree with genomic data. This model utilizes the Genotype 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.
The HL7 Version 3 Pedigree standard is also in the process of becoming an ISO standard. The US Healthcare Information Technology Standards Panel (HITSP) recently selected the Pedigree standard as the standard for communication between EHR systems and decision support applications.
Business Case
Benefits
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.
Implementations/ Case Studies
A breakthrough in EHR-PHR communication of family history data has been recently achieved: the new Surgeon General’s web tool for family history, My Family Health Portrait, has adopted the HL7 Version 3 Pedigree specifications, and can communicate with professional tools compliant with the HL7 Pedigree, such as HughesRiskApps developed at Massachusetts General Hospital. Information exchange between those systems (and others) based on the HL7 Pedigree was highlighted during a special HHS meeting that can be viewed here http://videocast.nih.gov/launch.asp?14803 (Videocast of the Surgeon General Next-Generation Family Health History Tool, November 25, 2008).
Resources
Work Groups
Presentations
Genotype Topic
Type
Releases
Summary
The HL7 Clinical Genomics Pedigree Topic includes the Family History Model describing a patient’s pedigree with genomic data. It has the ability to transmit complete family history information for clinical decision support. This model is ANSI-approved and is the HITSP-accepted standard. This standard allows EHR/PHR interoperability, and is in use by the Surgeon General in his family history collection website: My Family Health Portrait. It is also in the process of becoming of an international standard through ISO.
The Clinical Genomics Work Group CGWG also developed the Pedigree Topic, which was approved by ANSI in July 2007. The Pedigree Topic 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.
