填补行业空白！高通量基因测序仪性能测定方法国家标准征求意见

Core Viewpoint - The national standard for "Performance Testing Methods for High-Throughput Gene Sequencers" is open for public consultation, aiming to enhance the accuracy and comparability of sequencing data, providing crucial technical support for research, clinical applications, and industry development [1][2]. Group 1: Standard Overview - The standard is developed by the National Technical Committee for Standardization of Instrument Analysis and Testing (TC481) under the Ministry of Science and Technology, with contributions from various institutions including the China Customs Scientific Research Center and BGI [2]. - It specifies performance testing methods for high-throughput gene sequencers based on major sequencing technologies such as probe anchoring sequencing, reversible terminator sequencing, and semiconductor sequencing [2]. Group 2: Market Growth and Application - The annual installation of high-throughput gene sequencers in China is projected to grow from approximately 600 units in 2020 to 1,800 units by 2024, indicating significant market expansion [2]. - High-throughput sequencers are essential tools in life sciences, with applications in genomics, genetic disease diagnosis, tumor mutation detection, and pathogen identification [2]. Group 3: Need for Standardization - Currently, there is a lack of standardized testing methods for the overall performance of these instruments at the national level, leading to inconsistent evaluation methods among different manufacturers and users [2]. - The absence of a unified standard complicates data comparability and quality control, impacting the reliability of research data and clinical results [2]. Group 4: Expected Benefits - The implementation of this standard is expected to fill the existing gap in domestic standards, providing comprehensive guidelines for instrument manufacturing, application, and quality control, thereby ensuring the accuracy and reliability of sequencing data [3]. - It aims to enhance the consistency and credibility of genetic testing results for hereditary diseases, tumors, and infectious diseases, supporting precision medicine [3]. - The standard is anticipated to promote unified technical specifications in the industry, improve product quality, and contribute to the high-quality development of the gene testing industry, which reached a market size of 24 billion yuan in 2022, with an annual growth rate of 18% to 20% [3].