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ISO/TS 22693:2021

(Main)

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

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

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.

Informatique génomique — Rapport de fusion de gènes clinique structuré pour les dossiers de santé électroniques

General Information

Status
Published
Publication Date
09-Jun-2021
ICS
35.240.80 - IT applications in health care technology
Technical Committee
ISO/TC 215/SC 1 - Genomics Informatics
Drafting Committee
ISO/TC 215/SC 1/WG 1 - Genomics data sharing
Current Stage
9020 - International Standard under periodical review
Start Date
15-Apr-2024
Completion Date
15-Apr-2024
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ISO/TS 22693:2021 - Genomics informatics -- Structured clinical gene fusion report in electronic health recordsISO/TS 22693:2021 - Genomics informatics -- Structured clinical gene fusion report in electronic health records
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ISO/TS 22693:2021 - Genomics informatics -- Structured clinical gene fusion report in electronic health records
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TECHNICAL ISO/TS
SPECIFICATION 22693
First edition
2021-06
Genomics informatics — Structured
clinical gene fusion report in
electronic health records
Informatique génomique — Rapport de fusion de gènes clinique
structuré pour les dossiers de santé électroniques
Reference number
ISO/TS 22693:2021(E)
©
ISO 2021

---------------------- Page: 1 ----------------------
ISO/TS 22693:2021(E)

COPYRIGHT PROTECTED DOCUMENT
© ISO 2021
All rights reserved. Unless otherwise specified, or required in the context of its implementation, no part of this publication may
be reproduced or utilized otherwise in any form or by any means, electronic or mechanical, including photocopying, or posting
on the internet or an intranet, without prior written permission. Permission can be requested from either ISO at the address
below or ISO’s member body in the country of the requester.
ISO copyright office
CP 401 • Ch. de Blandonnet 8
CH-1214 Vernier, Geneva
Phone: +41 22 749 01 11
Email: copyright@iso.org
Website: www.iso.org
Published in Switzerland
ii © ISO 2021 – All rights reserved

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ISO/TS 22693:2021(E)

Contents Page
Foreword .v
Introduction .vi
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 2
4 Abbreviated terms . 4
5 Gene fusion . 4
6 Composition of clinical gene fusion report . 5
6.1 General . 5
6.2 Summary section . 5
6.3 Detailed section . 5
7 Fields and their nomenclature of required data . 5
7.1 General . 5
7.2 Clinical sequencing order . 6
7.2.1 General. 6
7.2.2 Clinical sequencing order code . 7
7.2.3 Date and time . 7
7.3 Information on subject of care . 7
7.3.1 General.
...

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