HL7 Version 3 Implementation Guide: Family History/Pedigree Interoperability, Release 1 – US Realm

This US-Realm family history implementation guide is based on the Pedigree R1 standard (HL7 Clinical genomics family health history model). The model has the ability to transmit complete family history information for clinical decision support and risk assessment. The guide describes how to use the standard in the US by illustrating the preferred representation formats of key data elements such as genetic findings and clinical data. The guide also provides guidance on the exchange mechanism of family health data. In this first release of the US guide, the guidance supports demographic and clinical data, as well as certain types of genetic data and risk assessment.

Main sections:

· Introduction

· Story boards

· Sample pedigrees

· The family history model

· Vocabularies

· Exchange of family health history

· Appendix A: The family history (pedigree) model

· Appendix B: Hierarchical vs. flat representation

· Appendix C: XML schema and samples

· Appendix D: HITSP specifications on personalized healthcare

· Appendix E: Example XML snippets