National foreword

This Published Document is the UK implementation of ISO/TS 23357:2023.

The UK participation in its preparation was entrusted to Technical Committee IST/35, Health informatics.

A list of organizations represented on this committee can be obtained on request to its committee manager.

Contractual and legal considerations

This publication has been prepared in good faith, however no representation, warranty, assurance or undertaking (express or implied) is or will be made, and no responsibility or liability is or will be accepted by BSI in relation to the adequacy, accuracy, completeness or reasonableness of this publication. All and any such responsibility and liability is expressly disclaimed to the full extent permitted by the law.

This publication is provided as is, and is to be used at the recipient’s own risk.

The recipient is advised to consider seeking professional guidance with respect to its use of this publication.

This publication is not intended to constitute a contract. Users are responsible for its correct application.

This publication is not to be regarded as a British Standard.

Compliance with a Published Document cannot confer immunity from legal obligations.

This Published Document was published under the authority of the Standards Policy and Strategy Committee on 31 July 2023.

Foreword

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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 document 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).

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This document was prepared by Technical Committee ISO/TC 215, Health informatics, Subcommittee SC 1, Genomics informatics.

Any feedback or questions on this document should be directed to the user’s national standards body. A complete listing of these bodies can be found at www.iso.org/members.html.

Introduction

Owing to the rapid advancement of next-generation sequencing technologies, the human genome is being adopted in clinical settings to realize precision medicine^[⁷^]. Massive parallel sequencing or next-generation sequencing (NGS) is any of several high-throughput approaches to DNA sequencing using the concept of massively parallel processing. These technologies use miniaturized and parallelized platforms for sequencing of 1 million to 43 billion short reads (50-400 bases each) per instrument run. The data obtained in a clinical setting should be shared with another institution when patients move or shared with the patient if requested.

The clinical application steps based on clinical sequence information consist of:

specimen collection, processing and storage;
DNA extraction;
DNA processing and library preparation;
generation of sequence reads and base calling;
sequencing alignment/mapping;
variant calling;
variant annotation and filtering;
variant evaluation and assertion;
generation of test report^[⁸^].

It is required to share clinical sequencing information at a level that can reproduce the results of the institution that obtained the initial clinical sequencing information. In addition, the shared clinical genomic sequencing data should be interoperable.

This document proposes a data specification to integrate multi-layered sequencing files and related parameters and clinical data for achieving the reproducibility of genomic data in clinical practice.

This document will assist health IT companies by proposing new system requirements to deal with genomic data.

This document can be used to store and share clinical genomic data in electronic health records. In addition, it will be helpful in translational research, which requires genomic and clinical data from multiple institutes.

1 Scope

This document specifies clinical sequencing information generated by massive parallel sequencing technology for sharing health information via massively parallel sequencing. This document covers the data fields and their metadata from the generation of sequence reads and base calling to variant evaluation and assertion for archiving reproducibility during health information exchange of clinical sequence information. However, the specimen collection, processing and storage, DNA extraction and DNA processing and library preparation, and the generation of test report are not in the scope of this document.

This document hence defines the data types, relationship, optionality, cardinalities and bindings of terminology of the data.

In essence, this document specifies:

the required data fields and their metadata from generation of sequence reads and base calling to variant evaluation and assertion for sharing clinical genomic sequencing data files generated by massively parallel sequencing technology, as shown in Figure 1;
the sequencing information from human samples using DNA sequencing by massively parallel sequencing technologies for clinical practice.

2 Normative references

3 Terms and definitions

4 Abbreviated terms

5 Summary of the clinical genomic information model

5.1 General

5.2 Patient

5.3 Specimen

5.4 Experimental equipment

5.5 Analysis equipment

5.6 Derived data

Bibliography

PD ISO/TS 23357:2023

Genomics informatics - Clinical genomics data sharing specification for next-generation sequencing

Current

Published:

31 Jul 2023