Section 3: Clinical and Administrative Domains
Section 5: Implementation Guides
HL7 Version 3 Implementation Guide: Family History/Pedigree Interoperability, Release 1
The HL7 Clinical Genomics Family Health History (Pedigree) Model is a data standard for capturing,within a system, and transmitting family histories between systems. This includes describing a patient’s full pedigree (family and familial relationships) 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 and risk assessment. The Family History 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/tool: My Family Health Portrait.
HL7 Version 3 Implementation Guide: Family History/Pedigree Interoperability, Release 1 may also go by the following names or acronyms:
- 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
- Provides a standard method for capturing, transmitting and receiving family history information in sufficient detail to allow clinical decision support (CDS)
- Promotes prevention and early detection of hereditary disease
- Guides decision making for genetic testing and interpretation
- Establishes a domain of family health history in a convergence point of EHR, PHR and Genomics to promote patient care, not just for the benefit of the individual patient, but for all members of the patient’s family
- 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
Data modelers from commercial software vendors, healthcare systems, and research groups contributed to the development. HITSP has selected the Family History / 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 / Pedgree 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 multiple live clinical environments for patient care.