In March 2026, ISO/TS 20738:2026, Genomics informatics-Requirements of data analysis for direct-to-consumer testing, was officially released by ISO. The specification was jointly developed by CNIS and BGI Research, in collaboration with experts from the United States, Canada, South Korea, Spain, Singapore, and other countries.

The document specifies unified requirements for genetic data analysis relating to direct-to-consumer (DTC) testing, which is conducive to the standardized and globalized development of the industry. It has initiated a new stage of high-quality development in DTC testing, bringing the vision of genomic health value for everyone closer to reality.

With the rapid advancement of gene sequencing technology, genetic testing has gradually moved from clinical settings to everyday life. Faced with an increasing variety of genetic testing products on the market, how to ensure the guiding value of the interpretive reports is rather critical. The newly published specification provides requirements in areas such as data preprocessing and quality control, genotype analysis and variant annotation, evaluation model construction and compliant database use, as well as the design of evaluation report elements and result interpretation. It provides a globally applicable scientific basis for deciphering complex genes and offers professional guidance for genotyping technology and result interpretation, laying a technical roadmap for the healthy development of the DTC industry.

The release of ISO/TS 20738:2026 is expected to bolster consumer trust in DTC testing and underlie the development of personalized disease prevention, health management, and service solutions.