ISO/TS 4425:2023

TECHNICAL ISO/TS
SPECIFICATION 4425
First edition
2023-04
Genomics informatics — Data
elements and their metadata
for describing the microsatellite
instability (MSI) information of
clinical massive parallel DNA
sequencing
Informatique génomique — Éléments de données et leurs
métadonnées pour décrire les informations relatives à l'instabilité des
microsatellites (MSI) du séquençage massif parallèle d'ADN
Reference number
© ISO 2023
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Contents Page
Foreword .v
Introduction . vi
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Abbreviated terms . 5
5 Microsatellite instability (MSI) .5
6 Composition of elements for describing MSI status on clinical DNA NGS report .6
6.1 General . 6
6.2 Summary part . 7
6.3 Detail part . 7
7 Fields and their nomenclature of required data . 7
7.1 General . 7
7.2 Clinical sequencing order . . 8
7.2.1 General . 8
7.2.2 Clinical sequencing order code . 8
7.2.3 Date and time . 8
7.3 Information on subject of care . 9
7.3.1 General . 9
7.3.2 Subject of care identifier . 9
7.3.3 Subject of care name . 9
7.3.4 Subject of care birth date . 9
7.3.5 Subject of care sex . 9
7.3.6 Subject of care ancestry . 9
7.3.7 Referring diagnosis . 10
7.4 Information on legally authorized person ordering clinical sequencing . 10
7.4.1 General . 10
7.5 Performing laboratory . 10
7.5.1 General . 10
7.5.2 Basic information on performing laboratory . 10
7.5.3 Information on report generator . 10
7.5.4 Information of legally confirmed person on sequencing report. 10
7.6 Biospecimen information. 10
7.6.1 General . 10
7.6.2 Type of specimen . 10
7.7 MSI status result information . 11
7.7.1 General . 11
7.7.2 MSI status . 11
7.8 Recommended treatment . 11
7.8.1 General . 11
7.8.2 Medication . . 11
7.8.3 Clinical trial information . 11
7.8.4 Other recommendations . 11
7.8.5 Supporting information . 11
8 Fields and their nomenclature of optional data .12
8.1 General .12
8.2 Reference genome information .12
8.3 MSI information . 13
8.3.1 General .13
8.3.2 Criteria of MSI status .13
8.3.3 Genomic position for determining MSI status .13
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8.3.4 Genomic position against markers of alternative method . .13
8.3.5 Clinical implication of MSI status . 13
8.4 Sequencing information . 13
8.4.1 Clinical sequencing date . 13
8.4.2 Sequencing type .13
8.4.3 Quality control metrics . 14
8.4.4 Sequencing platform information . 14
8.4.5 Analysis platform information . 14
Annex A (informative) Example structure of MSI status report .16
Bibliography .19
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Foreword
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This document was prepared by Technical Committee ISO/TC 215, Health informatics, Subcommittee
SC 1, Genomics informatics.
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