Research Information System
Thesis Type: Doctorate
Institution Of The Thesis: Middle East Technical University, Graduate School of Informatics, Medical Informatics, Turkey
Approval Date: 2023
Thesis Language: English
Student: AYHAN SERKAN ŞIK
Principal Supervisor (For Co-Supervisor Theses): Yeşim Aydin Son
Co-Supervisor: Arsev Umur Aydinoğlu
Abstract:
From birth to death, an individual’s medical status is documented under various headings, including welfare, diseases, medications, laboratory tests, and vaccinations. In conjunction with the advance of information technologies, for more than 60 years, documentation has been handled through Electronic Health Records (EHR) [1]. Successful progress in decision support systems for public health by combining records from individuals [2]. Constructive public health and precision medicine achievements can be accomplished by adopting EHR standards based on structured data. Besides, standards provide interoperable and accessible recordings among the actors of medical information.
Following the advances in molecular genetics and genomic technologies, a tremendous amount of molecular data is being produced. Genetic tests and biomarkers for different diseases are increasing daily [3]. Considering precision medicine, interoperable genetic test result reporting is indispensable. The ticket for interoperability is embracing standardised medical records among shareholders (personal/machinery).
The National Health Information System of Türkiye is known as SağlıkNET. SağlıkNET is EHR of Türkiye. International standards translated into Turkish language and officially in use cannot manage genetic data in a standardised manner. Codes in effect, are mainly focused on diseases. For reimbursement, a few genetic tests are coded locally in an idiosyncratic way. Recently, in April 2022, gene names associated with diseases were provided in the Health Code Reference Server (HCRS) of Türkiye. A total of 20.493 genes are provided but not explicitly stated in the National Health Data Dictionary (NHDD) of Türkiye. In conclusion, with full intent to achieve an interoperable health record, implications in Türkiye for genetically oriented diseases and genetic tests do not obey any standards or structured data format. In this dissertation, we aim to provide a conceptual framework for a meaningful and information exchange-capable electronic health information system, benefitting international standards for genetic test result reporting.