Accepted for/Published in: Journal of Medical Internet Research
Date Submitted: Jun 14, 2019
Open Peer Review Period: Jun 17, 2019 - Aug 12, 2019
Date Accepted: Jun 3, 2020
(closed for review but you can still tweet)
Implementing Clinical Genomic Sequencing Report in Electronic Health Record System Based on International Standards
ABSTRACT
Background:
Despite the rapid adoption of genomic sequencing in clinical practice, clinical sequencing reports in electronic health record (EHR) systems are currently being written in unstructured formats such as PDF or free text. These formats hinder the implementation of a clinical decision support system and secondary research applications. Therefore, there is an urgent need to standardize genomic sequencing reports in EHR systems.
Objective:
To implement standardized machine-processable clinical sequencing reports in an EHR system, the ISO/TS 20428 international standard was developed for a structured template. This study aims to verify the actual use of the ISO/TS 20428 standard in clinical practice settings.
Methods:
Here, we describe the practical implementation of ISO/TS 20428 using Health Level 7 (HL7) Fast Healthcare Interoperability Resources (FHIR) genomics implementation guidance to efficiently deliver required genomic sequencing results to clinicians through an EHR system.
Results:
We successfully administered a structured genomic sequencing report in a tertiary hospital in Korea based on international standards. In total, 90 FHIR resources were used. Among 41 resources for the required fields, 26 were reused and 15 were extended. For the optional fields, 28 were reused and 21 were extended.
Conclusions:
To share and apply genomic sequencing data in both clinical practice and translational research, it is essential to identify the applicability of the standard based information system in a practical setting. This prototyping work proves that clinical genomics sequencing reporting data can be effectively implemented in an EHR system using the existing ISO/TS 20428 standard and FHIR resources.
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Copyright
© The authors. All rights reserved. This is a privileged document currently under peer-review/community review (or an accepted/rejected manuscript). Authors have provided JMIR Publications with an exclusive license to publish this preprint on it's website for review and ahead-of-print citation purposes only. While the final peer-reviewed paper may be licensed under a cc-by license on publication, at this stage authors and publisher expressively prohibit redistribution of this draft paper other than for review purposes.