Genetic Testing Information Standardization in HL7 CDA and ISO13606

Diego Boscá, Luis Marco, Veronica Burriel, Teresa Jaijo, Jose Mª Millán, Ana Levin, Oscar Pastor, Montserrat Robles, Jose Alberto Maldonado

Biomedical Informatics Group (IBIME)Institute for the Application of Advanced Information and Communication Technologies (ITACA)

Universitat Politècnica de Valencia, Spain

diebosto@upv.es

ContentsIntroduction

Materials

Archetype modeling

Conclusion

Introduction

• The objective of this project is the inclusion of La Fe hospital genetic service information into the EHR.– To achieve this, first we have to model the available genetic testing

information with international EHR standards to improve semantically the available information.

• Use case: Usher Syndrome

HL7 CDA

La Fe Hospital Genetic Service ISO13606

Joint Action

• We use archetypes to model HL7 CDA templates.

• Contents and structure are provided by the implementation guide.

• With all the advantages of using archetypes:– Multiple languages– Reusable– Easy evolution– Machine computable– Formal syntax– Available tooling

Materials

• ‘Genetic Testing Report’ CDA implementation guide. – (May 2011 September 2012)

• LinkEHR® archetype editor for the HL7 CDA and ISO13606 archetype edition.

• Anonymized genetic testing sample reports from La Fe Hospital.– Use them to check that generated archetypes have all

required information.

GTR Implementation Guide

• Defines in a textual way the genetic testing report data set described as a CDA document

• Defines elements occurrences, attributes cardinality, and optionally his LOINC code and terminology subset for a given attribute.

• Includes an example instance for each element.

GTR Relevant Information

TitleDescriptionTemplateID

TypeCardinality

Codes

Archetype modeling

ISO13606 archetypes

• Next we translated HL7 CDA archetypes to ISO13606.

• Transforming from CDA to ISO13606 is simpler as ISO13606 in more generic.

• ISO13606 part 3 describes the codes and structures to be used in this transformation.

ISO13606 archetypes

• EntryRelationship (relations between entries in CDA) were the main issue for this transformation.

• These can not be directly represented in ISO13606, so a transformation is needed.

• Target Observations from the EntryRelationship are transformed into ISO13606 Clusters in order to simulate Entry relations.

Conclusion

• Archetypes developed in this project allow us to address the genetic cause of a pathology.

• Clinicians validated that all the information contained in the Usher Syndrome reports was available on the implementation guide (and thus, in the HL7 CDA archetype).– The arrangement or structure of the information may

differ, though.

Conclusion

• Structural part of the concepts can be easily reviewed at first sight. Other derived representations, such as mindmaps or forms, also help on this review process.

• Archetypes give us very interesting features, specially in a country such as Spain (multiple regional languages, each region has its own variations and competences, etc.)

Future work

• Model completely the implementation guide.– Only the relevant parts from the implementation guide were used (For

this work we focused on the parts of the implementation guide contained in the hospital genetic testing reports).

• As the implementation guide evolves we have to reflect these changes to the generated archetypes.

• Generate the equivalent openEHR archetypes.

• Use the future genetic service research data source to generate standardized HL7 CDA and ISO13606 documents.

Resources

• Archetypes created can be found in http://tinyurl.com/GeneticArchetypes

• HL7 CDA Genetic Testing Report (GTR) Implementation Guide can be found at HL7 website

Archetypes GTR Implementation Guide

Diego Boscá Tomás

Grupo de Informática Biomédica (IBIME)Instituto ITACA, Universitat Politècnica de Valencia, Spain

diebosto@ibime.upv.eshttp://www.ibime.upv.es/

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THANK YOU!