Abstract
Current health information systems used in genetic research centers and clinics in the Kingdom of Saudi Arabia have failed to enable researchers and health care physicians to utilize genetic and clinical data in their research. In this paper, we aim to design and implement a Genetic Disorders Diagnosis Data Management System (G3DMS) to support clinicians in the process of diagnosing genetic diseases and conducting genetic studies. A case study was undertaken to analyze a health information system in Saudi to understand its design problems via a brainstorming method. We then used the Barker's system design method and a prototype to validate our proposed system via usability testing. This research has resulted in the development of the G3DMS that comprises: electronic data-capture forms for data entry; a customized query builder to display and modify patient data as well as form research queries; a module that allows historical data to be uploaded in the form of bulk data using a template; export data options to Excel and JavaScript Object Notation (JSON) format; and authorization access for healthcare researchers and clinicians. The G3DMS was implemented in the Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, Jeddah, KSA.