The International Organization for Standardization (ISO) has officially released the groundbreaking international standard ISO/TS 20738:2026, titled “Genomics informatics — Requirements of data analysis for direct-to-consumer testing.” This milestone standard was co-led by BGI-Research and the China National Institute of Standardization, in collaboration with global experts from the United States, Canada, South Korea, Spain, Singapore, and other nations. The release of this standard sets a global benchmark for the standardized practices of genetic data analysis and interpretation in direct-to-consumer (DTC) testing, marking a significant step toward making genomic health accessible worldwide.
The International Organization for Standardization (ISO) officially released ISO/TS 20738:2026.
The global demand for DTC genetic testing has grown rapidly thanks to advancements in genome sequencing technology, which have made it more efficient and accessible. By 2025, the global DTC genetic testing market is projected to reach $4.5 billion, with estimates suggesting it could exceed $10 billion within the next decade. Major markets worldwide have already established substantial user bases. In China alone, more than 10 million people are part of the DTC genetic testing ecosystem, and this number continues to grow at an accelerating pace.
Ensuring the reliability and quality of genetic insights is critical in a market with an ever-expanding variety of DTC genetic testing options. ISO/TS 20738:2026 addresses key aspects of the data analysis pipeline, including data preprocessing and quality control, genotype analysis, variant annotation, evaluation model development, database compliance, and the design and interpretation of evaluation reports. These comprehensive guidelines provide an authoritative and scientifically grounded framework for the global DTC industry.
Dr. Xu Xun, Chief Researcher of BGI Group, Director of State Key Laboratory of Genome and Multi-omics Technologies, highlighted how this standard reinforces the mission of making genomic information valuable and accessible: "BGI Group has always been committed to advancing the global HGP 2.0 initiative, with a vision of bringing the benefits of genomics to everyone. The establishment of this international standard for direct-to-consumer genetic testing lays a solid foundation for the standardization and global development of the industry, bringing us one step closer to the goal of 'enabling everyone to benefit from genomics'."
The development of this standard comes at a pivotal moment in the evolution of multi-omics and precision healthcare solutions. Standardized, reliable data serves as the foundation for innovation in health monitoring and personalized healthcare services. ISO/TS 20738:2026 will not only boost consumer confidence in genetic testing but also provide a strong, global framework to guide industry growth and foster healthy development.
BGI Group reaffirms its commitment to global collaboration and innovation in genomics. The release of ISO/TS 20738:2026 is a milestone achievement that demonstrates how scientific cooperation can contribute to building a healthier and more connected world.
The ISO/TS 20738:2026 standard can be accessed here: