Family History Information Exchange Services Using HL7 Clinical Genomics Standard Specifications

Family History Information Exchange Services Using HL7 Clinical Genomics Standard Specifications

Amnon (Shvo) Shabo (IBM Research Lab, Haifa, Israel) and Kevin S. Hughes (Massachusetts General Hospital, Partners Health Care, USA)
DOI: 10.4018/978-1-59904-426-2.ch011
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Abstract

A number of family history applications are in use by health care professionals (e.g., CAGENE, Progeny, Partners Health care Family History Program) as well as by patients (e.g., the U.S. Surgeon General’s Family History Program). Each has its own proprietary data format for pedigree drawing and for the maintenance of family history health information. Interoperability between applications is essentially non-existent. To date, disparate family history applications cannot easily exchange patient information. The receiving application should be able to understand the semantics of the incoming family history and enable the user to view and/or to edit it using the receiving applications interface. We envision that any family history application will be able to send and receive an individual’s family history information using the newly created HL7 Clinical Genomics Specifications through the Semantic Web, using services that will transform one format to the other through the HL7 canonical representation.

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