ISO/TS 20428:2024
(Main)Genomics Informatics — Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records
Genomics Informatics — Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records
The document defines the data elements and the requisite metadata essential for implementing a structured clinical genomic sequencing report in electronic health records, particularly focusing on the genomic data generated by next-generation sequencing technology. This document: — defines the composition of a structured clinical sequencing report (see Clause 6); — defines the required data fields and their metadata for a structured clinical sequencing report (see Clause 7); — defines the optional data (see Clause 8); — 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 (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; — does not cover the Sanger sequencing methods.
Informatique génomique — Éléments de données et leurs métadonnées pour décrire les informations structurées de la séquence génomique clinique dans les dossiers de santé électroniques
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ISO/TS 20428
Second edition
Genomics Informatics — Data
2024-06
elements and their metadata for
describing structured clinical
genomic sequence information in
electronic health records
Informatique génomique — Éléments de données et leurs
métadonnées pour décrire les informations structurées de
la séquence génomique clinique dans les dossiers de santé
électroniques
Reference number
ISO/TS 20428:2024(en) © ISO 2024
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ISO/TS 20428:2024(en)
COPYRIGHT PROTECTED DOCUMENT
© ISO 2024
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
© ISO 2024 – All rights reserved
ii
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ISO/TS 20428:2024(en)
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 .
...
FINAL DRAFT
Technical
Specification
ISO/DTS 20428
ISO/TC 215/SC 1
Genomics Informatics — Data
Secretariat: KATS
elements and their metadata for
Voting begins on:
describing structured clinical
2024-03-07
genomic sequence information in
Voting terminates on:
electronic health records
2024-05-02
Informatique génomique — Éléments de données et leurs
métadonnées pour décrire les informations structurées de
la séquence génomique clinique dans les dossiers de santé
électroniques
RECIPIENTS OF THIS DRAFT ARE INVITED TO SUBMIT,
WITH THEIR COMMENTS, NOTIFICATION OF ANY
RELEVANT PATENT RIGHTS OF WHICH THEY ARE AWARE
AND TO PROVIDE SUPPOR TING DOCUMENTATION.
IN ADDITION TO THEIR EVALUATION AS
BEING ACCEPTABLE FOR INDUSTRIAL, TECHNO
LOGICAL, COMMERCIAL AND USER PURPOSES, DRAFT
INTERNATIONAL STANDARDS MAY ON OCCASION HAVE
TO BE CONSIDERED IN THE LIGHT OF THEIR POTENTIAL
TO BECOME STAN DARDS TO WHICH REFERENCE MAY BE
MADE IN NATIONAL REGULATIONS.
Reference number
ISO/DTS 20428:2024(en) © ISO 2024
---------------------- Page: 1 ----------------------
FINAL DRAFT
ISO/DTS 20428:2024(en)
Technical
Specification
ISO/DTS 20428
ISO/TC 215/SC 1
Genomics Informatics — Data
Secretariat: KATS
elements and their metadata for
Voting begins on:
describing structured clinical
genomic sequence information in
Voting terminates on:
electronic health records
Informatique génomique — Éléments de données et leurs
métadonnées pour décrire les informations structurées de
la séquence génomique clinique dans les dossiers de santé
électroniques
RECIPIENTS OF THIS DRAFT ARE INVITED TO SUBMIT,
COPYRIGHT PROTECTED DOCUMENT
WITH THEIR COMMENTS, NOTIFICATION OF ANY
RELEVANT PATENT RIGHTS OF WHICH THEY ARE AWARE
AND TO PROVIDE SUPPOR TING DOCUMENTATION.
© ISO 2024
IN ADDITION TO THEIR EVALUATION AS
All rights reserved. Unless otherwise specified, or required in the context of its implementation, no part of this publication may
BEING ACCEPTABLE FOR INDUSTRIAL, TECHNO
LOGICAL, COMMERCIAL AND USER PURPOSES, DRAFT
be reproduced or utilized otherwise in any form or by any means, electronic or mechanical, including photocopying, or posting on
INTERNATIONAL STANDARDS MAY ON OCCASION HAVE
the internet or an intranet, without prior written permission. Permission can be requested from either ISO at the address below
TO BE CONSIDERED IN THE LIGHT OF THEIR POTENTIAL
or ISO’s member body in the country of the requester.
TO BECOME STAN DARDS TO WHICH REFERENCE MAY BE
MADE IN NATIONAL REGULATIONS.
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 Reference number
ISO/DTS 20428:2024(en) © ISO 2024
© ISO 2024 – All rights reserved
ii
---------------------- Page: 2 ----------------------
ISO/DTS 20428:2024(en)
Contents Page
Foreword .v
Introduction .vi
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Abbreviated terms . 6
5 Use case scenario . 6
6 Composition of a clinical sequencing report . 7
6.1 General .7
6.2 Overall interpretation in summary .
...
ISO/DTS 20428
ISO/TC 215/SC 1
ISO/WD TS 20428(en)
Secretariat: KATS
Date: 2024-02-21
Genomics InformaticInformatics — Data elements and their
metadata for describing structured clinical genomic sequence
information in electronic health records
Informatique génomique — Éléments de données et leurs métadonnées pour décrire les informations
structurées de la séquence génomique clinique dans les dossiers de santé électroniques
© ISO 2023 – All rights reserved
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ISO/WD TSDTS 20428:2023(E:(en)
© ISO 20232024
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
E-mail: copyright@iso.org
Website: www.iso.org
Published in Switzerland
© ISO 20232024 – All rights reserved
ii
---------------------- Page: 2 ----------------------
ISO/WD TSDTS 20428:2023(E:(en)
Contents page
© ISO 20232024 – All rights reserved
iii
---------------------- Page: 3 ----------------------
ISO/WD TSDTS 20428:2023(E:(en)
Contents
Foreword . vi
Introduction .vi i
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Abbreviated terms . 6
5 Use case scenario . 7
6 Composition of a clinical sequencing report . 9
6.1 General . 9
6.2 Overall interpretation in summary . 10
6.3 Detailed contents . 11
7 Fields and their nomenclature of required data . 11
7.1 General . 11
7.2 Clinical sequencing orders . 12
7.2.1 General . 12
7.2.2 Clinical sequencing order code . 12
7.2.3 Date and time . 13
7.2.4 Specimen information .
...
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