Title
Genetic testing information standardization in HL7 CDA and ISO13606.
Abstract
Communicating genetic testing reports of a patient in a semantically interoperable way remains difficult. Most of the information is stored as non-communicable documents which cannot automatically be processed. The objective of the project was to obtain semantically interoperable genetic testing reports which could be used not only for communication purposes but also for secondary uses, for example clinical trials or clinical decision support. This work describes the first part of the project, the modeling of genetic information reports using EHR standards. We used the Implementation Guide for CDA R2 Genetic Testing Report (GTR) as a basis for modeling the archetypes for both HL7 CDA and CEN/ISO 13606. This approach was validated with the information included in Usher Syndrome reports available at ISS-La Fe. The result of this work were three archetypes following ISO13606 and three archetypes following HL7 CDA model which contained all the information available in both Usher syndrome genetic testing reports and the implementation guide significant parts.
Year
DOI
Venue
2013
10.3233/978-1-61499-289-9-338
Studies in Health Technology and Informatics
Keywords
Field
DocType
Archetype,HL7 CDA,Implementation Guide,Template,Electronic Health Records
Genetic testing,Knowledge management,Medicine,Standardization
Conference
Volume
ISSN
Citations 
192
0926-9630
2
PageRank 
References 
Authors
0.40
4
9
Name
Order
Citations
PageRank
Diego Boscá1989.19
Luis Marco230.78
Veronica Burriel351.86
Teresa Jaijo420.40
Jose M Millán520.40
Ana M. Levin6224.91
Oscar Pastor7786147.22
Montserrat Robles8106458.83
Jose Alberto Maldonado9142.72