The international standard "ISO/TS 8392:2023 Genomics informatics - Description rules for genomic data for genetic detection products and services" was officially released recently. This standard is the world's first international standard that specifies requirements on the category definition and quality assessment of genomic data, including the content structure, attribute and description rules of data format, and the compilation rules of data format.
This standard was jointly proposed by BGI-Research and the China National Institute of Standardization and developed by the Health Informatics Technical Committee (ISO/TC 215) of the International Organization for Standardization (ISO). With the rapid development of the genomics industry and the rapid reduction in the cost of gene sequencing, more and more genomic data is being generated. However, the data quality is often not optimal, such as insufficient completeness and semantics inconsistency of medical information, which seriously hinder the storage, exchange, sharing, application, and industrialization of genomic data. Therefore, standardizing genomic data is a prerequisite for the effective management of it as an asset.
This ISO/TS 8392:2023 specifies the categories and description rules of genomic data in genetic detection products and services, clarifies the composition rules, identifiers, and names of genomic data descriptions, and provides coding methods for data element value ranges. It is applicable to all genomic data processing, analysis, and quality evaluation of genetic detection products and services, and helps to improve data quality in terms of data completeness, effectiveness, and other parameters.
The development and release of this international standard lays a solid foundation for the standardization of the application of genomic data in clinical diagnosis and treatment and precision medicine research. It is also of great significance to the development of the biopharmaceutical industry.
BGI-Research and the China National Institute of Standardization jointly led the project and submitted the proposal for this international standard in June 2021. It was officially approved by ISO/TC 215 member countries in October 2021. Experts from Canada, the United States, South Korea, Austria, Nigeria and other countries participated in the development of this international standard proposal. During the development period, the project team organized online meetings with experts from various countries and relevant international organizations.