Family History Exchange

1. Proposed Profile: Family History Exchange

• Proposal Editor: Kboone
• Profile Editor: TBD
• Date: N/A (Wiki keeps history)
• Version: N/A (Wiki keeps history)
• Domain: PCC

2. The Problem

As advances in Clinical Genomics move forward, there becomes more and more patient health information that resides in health records other than their own. This information is in the form of health information of their family members. As PHR systems advance, it is expected that this health information will be able to be shared between family members. We would like to ensure that there is a uniform way to exchange this information between systems.

3. Key Use Case

A 35-year-old female patient sees her provider, requesting genetic screening for breast cancer. Due to her age, the provider suggests that this screening is not necessary. Six months and another provider later, the patient requests the same from her new provider. The healthcare provider takes a detailed health history, and learns that the patient's mother, two sisters, and two maternal aunts were all diagnosed with breast cancer, several at an early age. Genetic screening is performed, and the patient is diagnosed with a mutation in the BRCA1 gene, which is a risk for breast cancer. Additional cancer screening is recommended.

The patient has a 10-year-old daugter, and has been maintaining a personal health record for her, as well for herself. She records a copy of her genetic screening results in her daughers PHR, and copies the breast-cancer related history also.

4. Standards & Systems

Systems

• EHR Systems
• PHR Systesm

Standards

• HL7 Version 2
• HL7 Version 3
• SNOMED CT
• LOINC
• ASTM/HL7 Continuity of Care Document
• HL7 CDA Release 2.0