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ISO

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

General Information

Status
Withdrawn
Publication Date
11-May-2017
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
Parallel Committee
ISO/TC 249 - Traditional Chinese medicine
Current Stage
9599 - Withdrawal of International Standard
Start Date
11-Jun-2024
Completion Date
19-Apr-2025
Ref Project

Relations

Revised
ISO/TS 20428:2024 - Genomics Informatics — Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records
Effective Date
06-Jun-2022
ISO/TS 20428:2017 - Health informatics -- Data elements and their metadata for describing structured clinical genomic sequence information in electronic health recordsISO/TS 20428:2017 - Health informatics -- Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records
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Technical specification
ISO/TS 20428:2017 - Health informatics -- Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records
English language
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Standards Content (Sample)


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 2017
© 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

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 .11
7.3.1 General.11
7.3.2 Subject of care identifiers . .11
7.3.3 Subject of care name .11
7.3.4 Subject of care birth date .11
7.3.5 Subject of care sex.11
7.3.6 Subject of care ethnicity .11
7.4 Information on legally authorized person ordering clinical sequencing .11
7.4.1 General.11
7.5 Performing laboratory .12
7.5.1 General.12
7.5.2 Basic information on performing laboratory .12
7.5.3 Information on report generator .12
7.5.4 Information of legally confirmed person on sequencing report .12
7.6 Associated diseases and phenotypes .12
7.7 Biomaterial information .12
7.7.1 General.12
7.7.2 Types of sample .12
7.7.3 Genomic source class in biomaterial .12
7.7.4 Conditions of specimen that may limit adequacy of testing .12
7.8 Genetic variations .13
7.8.1 General.13
7.8.2 Gene symbols and names .13
7.8.3 Sequence variation information .13
7.9 Classification of variants .14
7.9.1 General.14
7.9.2 Classification of variants based on the pathogeny .14
7.9.3 Classification of variants based on clinical relevance .15
7.10 Recommended treatment .15
7.10.1 General.15
7.10.2 Classification of variants based on clinical relevance .15
7.10.3 Clinical trial information .15
7.10.4 Known protocols related to a variant .16
7.10.5 Other recommendation .16
7.11 Addendum .16
8 Fields and their nomenclature of optional data .16
8.1 General .16
8.2 Medical history .17
8.3 Family history/Pedigree information .17
8.4 Reference genome version .17
8.5 Racial genomic information .18
8.6 Genetic variation .18
8.7 Detailed sequencing information .18
8.7.1 Clinical sequencing date .18
8.7.2 Quality control metrics .18
8.7.3 Base calling information .18
8.7.4 Sequencing platform information .19
8.7.5 Analysis platform information .20
8.8 References .20
Annex A (informative) Example structure of clinical sequencing report .21
Annex B (informative) Example layout of clinical sequencing report .28
Bibliography .32
iv © ISO 2017 – 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 ty
...

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