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Challenges in Design and Creation of Genetic openEHR-Archetype
Priscila A Maranhão1, Gustavo Bacelar-Silva1, Duarte Gonçalves-Ferreira1
1CINTESIS, Porto, Portugal.
Abstract:
Since the Human Genomic Project discovered the sequencing of human genome, the interest about genome content in clinical practice has increased. Genetic information has become a key point to understand diseases or improve treatments, for example, the nutrigenomic and nutrigenetics. However, the huge amount of data generated raises the need for Electronic Health Record (EHR) improvements as it becomes increasingly necessary that it includes more specific genetic information. Thus, we aim to propose standard genetic archetypes (in openEHR) and describe our main challenges in this context. We assessed 2 bibliographical databases (Pubmed and Web of science) to determine the main clinical statements needed to create the archetypes. The clinical statements were organized in archetype-concepts, and they were created in openEHR archetype editor. One archetype - genetic test results - was created from a set of genetic data and submitted to CKM repository for review. Based on the modeled archetypes, an openEHR template can be created from the proposed archetype, mainly in the nutrigenomic area, genetic labs and others related to genetic.
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