ISO/TS 22693:2021

Genomics informatics — Structured clinical gene fusion report in electronic health records

Scope

The document defines the data elements and their necessary metadata to implement a structured clinical gene fusion report whose data are generated by next generation sequencing technologies.
This document
—    describes the reporting guideline for RNA sequencing approaches focusing on detecting novel and known fusion partners,
—    defines the required data fields and their metadata for a structured clinical gene fusion report,
—    defines the optional data fields and their metadata,
—    covers the fusion gene from human specimen using whole transcriptome sequencing by next generation sequencing technologies for clinical practice and translational research,
—    does not cover the fusion gene detection using DNA sequencing methods,
—    does not cover the basic research and other scientific areas,
—    does not cover the other biological species,
—    does not cover the Sanger sequencing methods, and
—    does not cover the other structural variations.
This document only defines the data elements and their metadata for the structured clinical sequencing report in electronic health records. Therefore, its layout can be designed based on the institutional decision if all elements are included as in this document.