Ayhan Serkan Şık, A Conceptual Design for Genetic Information Exchange Coding Standards in Türkiye

Ph.D. Candidate: Ayhan Serkan Şık
Program: Medical Informatics
Date: 18.01.2023 / 15:00
Place:
B-116

Abstract: 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), does not contain codes for genetic tests and diseases. As a result, due to the lack of standardization, 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.