Genetic testing information standardization in HL7 CDA and ISO13606.

Autors de IIS La Fe

• Teresa Jaijo Sanchís

  Autor

• 

  José María Millán Salvador

  Autor

• Óscar Pastor López

  Autor

• Montserrat Robles Viejo

  Autor

• Jose Alberto Maldonado Segura

  Autor

Autors aliens a IIS La Fe

• Bosca D
• Marco L
• Burriel V
• Levin A

Grups d'Investigació

• Biomedicina Molecular, Celular y Genómica

  

  Leader

  José María Millán Salvador

• Unidad Mixta de Investigacion en TICs aplicadas a la reingeniería en procesos sociosanitarios (ERPSS)

  Investigador Principal

  María Eugenia Gas López

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.