Next-Generation Sequencing-Based Cancer Panel Data Conversion Using International Standards to Implement a Clinical...

Area of Science:

• Genomics
• Bioinformatics
• Clinical Informatics

Background:

• Next-generation sequencing (NGS) advances enable precision medicine but lack standardized clinical reporting.
• Unstructured clinical sequencing reports in EHRs hinder clinical decision support and translational research.
• Integrating genomic and clinical data is a significant challenge for research and personalized medicine.

Purpose of the Study:

• To implement international standards for clinical sequencing reports.
• To develop a clinical research information system for integrated genomic and clinical data.

Main Methods:

• Applied ISO/TS 20428 standard to 367 clinical sequencing reports.
• Developed a clinical NGS research system by extending a clinical data warehouse.
• Created a user interface with a clinical research portal and NGS result viewer.

Main Results:

• Restructured 367 reports into 4 database tables and 49 entities.
• Successfully linked standardized sequencing data with EHR clinical data (diagnosis, surgery, death).
• Enabled the development of cohort and case-control datasets.

Conclusions:

• Standardized clinical sequencing data support both clinical practice and translational research.
• The developed system facilitates the use of genomic data in clinical decision-making and research.