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Product Brief - V3 Domain: Clinical Genomics Standards

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Product Name

Clinical Genomics Domain


  • Pedigree Topic
  • Genotype Topic
  • Genetic Variation
  • Gene Expression

Standard Category

Health Information Exchange Standards
Clinical Decision Support Standards

Integration Paradigm



Pedigree: Normative, ANSI Standard
Genotype: DSTU
Genetic Variation: Informative (Implementation Guide)


  • ANSI/HL7 V3 CGPED, R1-2007
  • HL7 V3 CG GV, R1
  • HL7 V3 CG_GENO, R1-2007 (DSTU)


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 HHS and Surgeon General in the family history collection website: My Family Health Portrait. Commercial companies can download and add to their systems; it is compliant to the pedigree standard from 2008. The Pedigree Topic is also in the process of becoming of an international standard through ISO.


A standard method for transmitting and receiving family history information in sufficient detail to allow Clinical Decision Support (CDS). HITSP approved for CDS.
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).

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 (Intended Use, Customers)

  • Pedigree uses Genotype CMET; deprecated Genotype topic (including CMETs) this ballot cycle after DSTU period, (2005?) -
  • Replacing this is normative topics: Genetic Variation, and Gene Expression,
  • Coming up is proteomics (studies of proteins) a new topic


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, particularly when it comes to prevention and early detection of hereditary disease. Genotype still part of the normative edition 2006, 2008.

Implementations/ Case Studies (Actual Users)

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 (Videocast of the Surgeon General Next-Generation Family Health History Tool, November 25, 2008). Other Pedigree users include: Partners Healthcare, Massachusetts General Hospital, Newton-Wellesley Hospital (Boston), and the HHS tool for citizens (part of PHR).


Work Groups


Certification Available
  • none


  • Ambassador Presentation is available (Grant Wood)

Relationship to/ Dependencies on, other standards

  • Genotype CMETS which have been deprecated, but will be updated.

Links to current projects in development