A conceptual design for genetic information exchange coding standards in Türkiye

Date

2023-7-24

Author

Şık, Ayhan Serkan

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Genomics-based technologies emerged and adapted to clinical diagnosis in the last decade. Worldwide, these test results are reported in unstructured and free text format. Moreover, the Ministry of Health Türkiye even provides a mandatory paper-based report template for hematologic hereditary disease records. The National Health Information Systems – Türkiye (NHIS-T), namely SağlıkNET, is based on ICD-10 (International Classification of Diseases) and does not contain codes for genetic tests and diseases. As a result, due to the lack of standardisation, most genetic and genomic tests cannot be coded in EHR, hindering meaningful exchange. On the other hand, Health Level 7 Fast Health Interoperability Resources (HL7 FHIR) affirms a promising role subject to enabling terminologies and ontologies related to genetic testing. In this dissertation, we developed a conceptual design for genetic information exchange coding standards for NHIS-T infrastructure to integrate genetic test reporting using the proposed standards. Our goal is to set an interoperable solution for integrating genomic data at the national level.

Subject Keywords

Genetic information exchange, Conceptual design, Qualitative research, Precision medicine, Electronic health records of Türkiye: turkish national health information system

URI

https://hdl.handle.net/11511/105162

Collections

Graduate School of Informatics, Thesis