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
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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 2021
© 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
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. 7
7.3.2 Subject of care identifier . 8
7.3.3 Subject of care name . 8
7.3.4 Subject of care birth date . 8
7.3.5 Subject of care sex. 8
7.3.6 Subject of care ancestry . 8
7.3.7 Referring diagnosis . 8
7.4 Information on legally authorized person ordering clinical sequencing . 8
7.4.1 General. 8
7.5 Performing laboratory . 8
7.5.1 General. 8
7.5.2 Basic information on performing laboratory . 9
7.5.3 Information on report generator . 9
7.5.4 Information of legally confirmed person on sequencing report . 9
7.6 Biospecimen information . 9
7.6.1 General. 9
7.6.2 Type of specimen . 9
7.7 Fusion gene information. 9
7.7.1 General. 9
7.7.2 Gene and its partner gene information . 9
7.7.3 Chromosome information . 9
7.7.4 Breakpoints information. 9
7.8 Classification of variants . 9
7.9 Recommend treatment .10
7.9.1 General.10
7.9.2 Medication .10
7.9.3 Clinical trial information .10
7.9.4 Other recommendation .10
7.9.5 Supporting information .10
8 Fields and their nomenclature of optional data .11
8.1 General .11
8.2 Associated disease and phenotypes .11
8.3 Reference genome version .12
8.4 Genomic information related to race .12
8.5 Fusion gene information.12
8.5.1 Fusion gene ID .12
8.5.2 HGVS version .13
8.5.3 Fusion transcript image .13
8.5.4 Read counts for evidence reads (or supporting reads) .13
8.5.5 Count of total fusion events .14
8.5.6 Type of fusion .14
8.5.7 Validation using standard method (RT-PCR) .14
8.6 Detailed sequencing information .14
8.6.1 Clinical sequencing date .14
8.6.2 Quality control metrics .14
8.6.3 Sequencing platform information .14
8.6.4 Analysis platform information .15
8.7 References .15
Annex A (informative) Example structure of clinical sequencing report .16
Bibliography .21
iv © ISO 2021 – All rights reserved
Foreword
ISO (the International Organization for Standardization) is a worldwide federation of national standards
bodies (ISO member bodies). The work of preparing International Standards is normally carried out
through ISO technical committees. Each member body interested in a subject for which a technical
committee has been established has the right to be represented on that committee. International
organizations, governmental and non-governmental, in liaison with ISO, also take part in the work.
ISO collaborates closely with the International Electrotechnical Commission (IEC) on all matters of
electrotechnical standardization.
The procedures used to develop this document and those intended for its further maintenance are
described in the ISO/IEC Directives, Part 1. In particular, the different approval criteria needed for the
different types of ISO documents should be noted. This document was drafted in accordance with the
editorial rules of the ISO/IEC Directives, Part 2 (see www .iso .org/ directives).
Attention is drawn to the possibility that some of the elements
...
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 2021
© 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
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. 7
7.3.2 Subject of care identifier . 8
7.3.3 Subject of care name . 8
7.3.4 Subject of care birth date . 8
7.3.5 Subject of care sex. 8
7.3.6 Subject of care ancestry . 8
7.3.7 Referring diagnosis . 8
7.4 Information on legally authorized person ordering clinical sequencing . 8
7.4.1 General. 8
7.5 Performing laboratory . 8
7.5.1 General. 8
7.5.2 Basic information on performing laboratory . 9
7.5.3 Information on report generator . 9
7.5.4 Information of legally confirmed person on sequencing report . 9
7.6 Biospecimen information . 9
7.6.1 General. 9
7.6.2 Type of specimen . 9
7.7 Fusion gene information. 9
7.7.1 General. 9
7.7.2 Gene and its partner gene information . 9
7.7.3 Chromosome information . 9
7.7.4 Breakpoints information. 9
7.8 Classification of variants . 9
7.9 Recommend treatment .10
7.9.1 General.10
7.9.2 Medication .10
7.9.3 Clinical trial information .10
7.9.4 Other recommendation .10
7.9.5 Supporting information .10
8 Fields and their nomenclature of optional data .11
8.1 General .11
8.2 Associated disease and phenotypes .11
8.3 Reference genome version .12
8.4 Genomic information related to race .12
8.5 Fusion gene information.12
8.5.1 Fusion gene ID .12
8.5.2 HGVS version .13
8.5.3 Fusion transcript image .13
8.5.4 Read counts for evidence reads (or supporting reads) .13
8.5.5 Count of total fusion events .14
8.5.6 Type of fusion .14
8.5.7 Validation using standard method (RT-PCR) .14
8.6 Detailed sequencing information .14
8.6.1 Clinical sequencing date .14
8.6.2 Quality control metrics .14
8.6.3 Sequencing platform information .14
8.6.4 Analysis platform information .15
8.7 References .15
Annex A (informative) Example structure of clinical sequencing report .16
Bibliography .21
iv © ISO 2021 – All rights reserved
Foreword
ISO (the International Organization for Standardization) is a worldwide federation of national standards
bodies (ISO member bodies). The work of preparing International Standards is normally carried out
through ISO technical committees. Each member body interested in a subject for which a technical
committee has been established has the right to be represented on that committee. International
organizations, governmental and non-governmental, in liaison with ISO, also take part in the work.
ISO collaborates closely with the International Electrotechnical Commission (IEC) on all matters of
electrotechnical standardization.
The procedures used to develop this document and those intended for its further maintenance are
described in the ISO/IEC Directives, Part 1. In particular, the different approval criteria needed for the
different types of ISO documents should be noted. This document was drafted in accordance with the
editorial rules of the ISO/IEC Directives, Part 2 (see www .iso .org/ directives).
Attention is drawn to the possibility that some of the elements
...
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