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Section 1e: Version 3 (V3)
Section 2: Clinical and Administrative Domains

HL7 Version 3 Standard: Clinical Genomics; Pedigree, Release 1

DESCRIPTION

The HL7 Clinical Genomics Pedigree Model is a data standard for transmitting family health histories between systems. This includes describing a patient’s full pedigree with diseases and conditions, and the option to link genetic data and risk analysis. The model has the ability to transmit complete family history information for clinical decision support. The Pedigree model is approved by the American National Standards Institute (ANSI), is the Healthcare Information Technology Standards Panel (HITSP)-accepted standard, and is in the process of becoming of an international standard through ISO.

 

This standard allows electronic health record (EHR)/personal health record (PHR) interoperability, and is in use by the US Surgeon General in the website: My Family Health Portrait.

ALTERNATIVE NAMES

HL7 Version 3 Standard: Clinical Genomics; Pedigree, Release 1 may also go by the following names or acronyms:

"Reaffirmation of HL7 V3 Standard: Clinical Genomics; Pedigree, R1", "V3: Clinical Genomics, R1: Pedigree", CG

TARGETS

  • Clinical and Public Health Laboratories
  • Clinical Decision Support Systems Vendors
  • EHR, PHR Vendors
  • Health Care IT Vendors
  • Lab Vendors
  • Healthcare Institutions (hospitals, long term care, home care, mental health)
  • Stand-alone family health history applications, family history sections in personal health records, or family history modules within electronic health records
  • Primary Care and Specialty Physicians

BENEFITS

  • Provides a standard method for transmitting and receiving family history information in sufficient detail to allow clinical decision support  (CDS)
  • Promotes prevention and early detection of hereditary disease
  • Enables CDS applications to run effectively
  • Establishes a domain of family health history in a convergence point of EHR, PHR and Genomics to promote patient care

IMPLEMENTATIONS/CASE STUDIES

  • Massachusetts General Hospital Avon Breast Clinic (cancer clinic risk assessment software application called The Hughes riskApps™)
  • Surgeon General’s web tool for family history, My Family Health Portrait
  • Intermountain Healthcare Clinical Genetics Institute ( (Salt Lake City, UT)
  • Partners Healthcare PCPGM (Boston, MA)
  • Microsoft HealthVault

DEVELOPMENT BACKGROUND

Data modelers from commercial software vendors, healthcare systems, and research groups contributed to the development.  HITSP has selected the Pedigree standard as the standard for communication between EHR systems and decision support applications. The model was designed to support the Personalized Healthcare Use Case that was developed by the U.S. Office of the National Coordinator for Health Information Technology (ONC).

 

The requirement for an elaborated Clinical Genomic Family History Model was identified while working on the breast cancer use case as part of the effort to develop the Genetic Variation model (see product brief #23 Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model).. The model has been piloted in a live environment.

 

An implementation guide for the Pedigree (FamilyHistory) model is under development.

RELATED DOCUMENTS

HL7 Version 3 Standard: Clinical Genomics; Pedigree, Release 1

(Download) (18.81 MB)

HL7 Version 3 Implementation Guide: Family History/Pedigree Interoperability, Release 1 (View Brief)

(Download) (769 KB)

TOPICS

  • Clinical Genomics
  • HHSFR

BALLOT TYPE

  • Normative

STATUS DATE

2007-07-05

RESPONSIBLE WORK GROUP

Clinical Genomics

PRODUCT TYPE

  • ANSI-approved

STAKEHOLDERS

  • Clinical and Public Health Laboratories
  • Clinical Decision Support Systems Vendors
  • EHR, PHR Vendors
  • Health Care IT Vendors
  • Healthcare Institutions
  • Lab Vendors

FAMILY

  • V3

CURRENT STATE

  • Stable

REALM

  • Universal