Canonical Pedigree Project

The Canonical Pedigree Project (CPP) was proposed and approved at the HL7 Phoenix meeting of the Clinical Genomics work group in January, 2010. It is intended to improve adoption of the standard V3 pedigree message. It has three aspects:

1. Reference Pedigrees: Provide reference pedigree messages with corresponding text descriptions of the family history. Intended to be a resource for family history collection software verification.
2. Interoperability Testing: The internal storage of a pedigree is up to the host system. Furthermore, some interoperability standards want to represent a pedigree using alternate formats (e.g. CCD, vMR, clinical statements, etc.). The canonical pedigree project shall provide test guidance to verify that host systems and alternate formats are able to accurately maintain the relationships in the reference pedigrees. If full fidelity cannot be maintained, the guidance will help quantify the lost of fidelity.
3. Clinical Power: Many systems provide support only for simplified family histories. For example, they will capture that there were two instances of aunts with breast cancer. That simplified perspective is in contrast with one that maintains maternal vs. paternal line, the number of available aunts and clinical details such as age of onset. The intent behind this facet of CPP is to quantify the clinical benefits of improving the granularity of family and clinical histories.

Reference Pedigrees: The following sample is an elaborated pedigree that supplements the standard specification: Patient has two sisters, a husband a daughter, and a mother and a father (each has two parents): Media:PedigreeSampleElaborated.doc