Overview

ISO/TS 4424:2023 - Genomics informatics - defines standardized data elements and metadata for reporting Tumor Mutation Burden (TMB) derived from clinical massive parallel DNA sequencing (NGS). Published as a Technical Specification in 2023, it specifies what information should accompany a reported TMB value so clinicians, laboratories, researchers and health‑IT systems can interpret and reuse TMB results reliably. The document covers human clinical samples and NGS (not Sanger) and does not prescribe laboratory protocols or calculation algorithms.

Key topics and requirements

ISO/TS 4424 organizes TMB reporting into structured data fields and metadata to ensure consistent representation. Key technical areas include:

TMB value and TMB status (summary and detailed parts of the report)
Mutation types and variant types used for TMB calculation
Sequencing types (e.g., whole genome, whole exome, targeted panels) and target areas/regions covered
Reference genome version and criteria of TMB status (reporting the basis for classification)
Germline filtering approach and any calibration or adjusted TMB values
Biospecimen information, subject identifiers, sequencing order and dates
Sequencing and analysis platform info, quality control metrics and other analytical metadata
Clinical context fields such as referring diagnosis, recommended treatment, clinical trial links and supporting information
Clear field nomenclature and optional vs required elements to support integration with electronic health records (EHRs)

Applications and users

ISO/TS 4424 is intended to improve interoperability and clinical utility of TMB as a biomarker. Primary users and stakeholders include:

Clinical molecular laboratories and pathologists reporting TMB from NGS panels
Bioinformaticians and analysis platform developers documenting TMB pipelines
Electronic health record and laboratory information system (LIS) vendors implementing structured TMB reporting
Oncologists and multidisciplinary care teams using TMB for immunotherapy decision support
Clinical researchers and multicenter studies aggregating TMB data for secondary analysis
Regulatory and accreditation bodies assessing TMB reporting consistency across labs

By standardizing metadata (platform, regions, filtering, reference builds), ISO/TS 4424 supports reproducible interpretation, cross‑laboratory comparison, secondary research and more reliable clinical decision support.

Related standards (if applicable)

ISO/TS 20428 - clinical sequencing report content (related)
ISO 8601 - date and time representation
ISO/TS 22220 - subject identification in health care
ISO/TS 27527 - health informatics provider identification

Keywords: ISO/TS 4424:2023, Tumor Mutation Burden, TMB, genomics informatics, NGS, massive parallel DNA sequencing, clinical sequencing report, metadata, bioinformatics, EHR interoperability.

Overview

Key topics and requirements

ISO/TS 4424 organizes TMB reporting into structured data fields and metadata to ensure consistent representation. Key technical areas include:

TMB value and TMB status (summary and detailed parts of the report)
Mutation types and variant types used for TMB calculation
Sequencing types (e.g., whole genome, whole exome, targeted panels) and target areas/regions covered
Reference genome version and criteria of TMB status (reporting the basis for classification)
Germline filtering approach and any calibration or adjusted TMB values
Biospecimen information, subject identifiers, sequencing order and dates
Sequencing and analysis platform info, quality control metrics and other analytical metadata
Clinical context fields such as referring diagnosis, recommended treatment, clinical trial links and supporting information
Clear field nomenclature and optional vs required elements to support integration with electronic health records (EHRs)

Applications and users

ISO/TS 4424 is intended to improve interoperability and clinical utility of TMB as a biomarker. Primary users and stakeholders include:

Clinical molecular laboratories and pathologists reporting TMB from NGS panels
Bioinformaticians and analysis platform developers documenting TMB pipelines
Electronic health record and laboratory information system (LIS) vendors implementing structured TMB reporting
Oncologists and multidisciplinary care teams using TMB for immunotherapy decision support
Clinical researchers and multicenter studies aggregating TMB data for secondary analysis
Regulatory and accreditation bodies assessing TMB reporting consistency across labs

Related standards (if applicable)

ISO/TS 20428 - clinical sequencing report content (related)
ISO 8601 - date and time representation
ISO/TS 22220 - subject identification in health care
ISO/TS 27527 - health informatics provider identification

Keywords: ISO/TS 4424:2023, Tumor Mutation Burden, TMB, genomics informatics, NGS, massive parallel DNA sequencing, clinical sequencing report, metadata, bioinformatics, EHR interoperability.

ISO/TS 4424:2023 PDF

Технические детали

Abstract

Overview

Key topics and requirements

Applications and users

Related standards (if applicable)

Похожие стандарты

Abstract

Overview

Key topics and requirements

Applications and users

Related standards (if applicable)

Похожие стандарты

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