ISO/TS 20428:2017
(Main)Health informatics — Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records
Health informatics — Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records
ISO/TS 20428:2017 defines the data elements and their necessary metadata to implement a structured clinical genomic sequencing report and their metadata in electronic health records particularly focusing on the genomic data generated by next generation sequencing technology. ISO/TS 20428:2017 - defines the composition of a structured clinical sequencing report (see Clause 5), - defines the required data fields and their metadata for a structured clinical sequencing report (see Clause 6), - defines the optional data (see Clause 7), - covers the DNA-level variation from human samples using whole genome sequencing, whole exome sequencing, and targeted sequencing (disease-targeted gene panels) by next generation sequencing technologies. Though whole transcriptome sequencing and other technologies are important to provide better patient care and enable precision medicine, this document only deals with DNA-level changes, - covers mainly clinical applications and clinical research such as clinical trials and translational research which uses clinical data. However, the necessary steps such as de-identification or consent from patient should be applied. The basic research and other scientific areas are outside the scope of this document, - does not cover the other biological species, i.e. genomes of viruses and microbes, and - does not cover the Sanger sequencing methods.
Informatique de santé — Éléments de données et leurs métadonnées pour décrire l'information structurée de la séquence génomique clinique dans les dossiers de santé électroniques
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TECHNICAL ISO/TS
SPECIFICATION 20428
First edition
2017-05
Health informatics — Data elements
and their metadata for describing
structured clinical genomic sequence
information in electronic health
records
Informatique de santé — Éléments de données et leurs métadonnées
pour décrire l’information structurée de la séquence génomique
clinique dans les dossiers de santé électroniques
Reference number
ISO/TS 20428:2017(E)
©
ISO 2017
---------------------- Page: 1 ----------------------
ISO/TS 20428:2017(E)
COPYRIGHT PROTECTED DOCUMENT
© ISO 2017, Published in Switzerland
All rights reserved. Unless otherwise specified, 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
Ch. de Blandonnet 8 • CP 401
CH-1214 Vernier, Geneva, Switzerland
Tel. +41 22 749 01 11
Fax +41 22 749 09 47
copyright@iso.org
www.iso.org
ii © ISO 2017 – All rights reserved
---------------------- Page: 2 ----------------------
ISO/TS 20428:2017(E)
Contents Page
Foreword .v
Introduction .vi
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Abbreviated terms . 5
5 Use case scenario . 6
6 Composition of a clinical sequencing report . 7
6.1 General . 7
6.2 Overall interpretation in summary . 8
6.3 Detailed contents . 8
7 Fields and their nomenclature of required data . 9
7.1 General . 9
7.2 Clinical sequencing orders .10
7.2.1 General.10
7.2.2 Clinical sequencing order code .10
7.2.3 Date and time .10
7.2.4 Specimen information .11
7.3 Information on subject of care .
...
TECHNICAL ISO/TS
SPECIFICATION 20428
First edition
2017-05
Health informatics — Data elements
and their metadata for describing
structured clinical genomic sequence
information in electronic health
records
Informatique de santé — Éléments de données et leurs métadonnées
pour décrire l’information structurée de la séquence génomique
clinique dans les dossiers de santé électroniques
Reference number
ISO/TS 20428:2017(E)
©
ISO 2017
---------------------- Page: 1 ----------------------
ISO/TS 20428:2017(E)
COPYRIGHT PROTECTED DOCUMENT
© ISO 2017, Published in Switzerland
All rights reserved. Unless otherwise specified, 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
Ch. de Blandonnet 8 • CP 401
CH-1214 Vernier, Geneva, Switzerland
Tel. +41 22 749 01 11
Fax +41 22 749 09 47
copyright@iso.org
www.iso.org
ii © ISO 2017 – All rights reserved
---------------------- Page: 2 ----------------------
ISO/TS 20428:2017(E)
Contents Page
Foreword .v
Introduction .vi
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Abbreviated terms . 5
5 Use case scenario . 6
6 Composition of a clinical sequencing report . 7
6.1 General . 7
6.2 Overall interpretation in summary . 8
6.3 Detailed contents . 8
7 Fields and their nomenclature of required data . 9
7.1 General . 9
7.2 Clinical sequencing orders .10
7.2.1 General.10
7.2.2 Clinical sequencing order code .10
7.2.3 Date and time .10
7.2.4 Specimen information .11
7.3 Information on subject of care .
...
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