2020 Volume 40 Issue 2 Pages 83-95
With the advance of DNA sequencing technology, patient genomic information has been leveraged in daily clinical practice. At the same time, several fundamental issues still remain unresolved, including massive genomic data processing, update, security and quality control as clinical testing. For future precision medicine with patient’s whole-genome information, we particularly focused on the following four practical issues: (1) Management of large-scale genomic data, (2) Validation of pathogenic variants, (3) Assurance of genomic data quality, (4) Consideration for sensitive genomic data. Herein, we prototyped a genomic diagnostic platform with agile methods and then assessed the effect and feasibility of the system architecture, which includes a clinical database optimized for ingesting huge genomic data, user-interface enabling efficient variant filtering and clinical decision support, traceable genomic data management framework and secure reporting storage and viewer linked with a hospital information system that contains personal patient information. In conclusion, the present study has demonstrated that our prototyping platform worked properly and effectively in clinical setting. Even though most components are still in a proof-of-concept stage, some have been introduced in advanced medical service.
