Genetron Health Launches Comprehensive Sarcoma Genomic Profiling Assay Featuring Innovative RNA-Capseq Technology for Precise Clinical Subtyping

On July 15, 2020, Genetron Holdings Limited officially launched its comprehensive genomic testing service for sarcoma. This service enables the simultaneous detection of 831 DNA-related genes and 395 RNA-related genes, leveraging the innovative RNA-Capseq technology to cover a wide range of genetic alterations, including mutations, fusions, and rearrangements. The technology is poised for future application in other cancer types characterized by diverse fusion gene variants, such as hematologic malignancies, with relevant validation efforts already underway.

Gene fusions are important molecular biological markers of tumors and can assist in precise patient subtyping. Current routine clinical detection methods have significant limitations: NGS-based detection at the DNA level has a high false-negative rate; FISH, RT-PCR, and other methods can only detect single fusion genes per test and cannot identify novel fusion mutations; while whole-transcriptome RNA-seq requires high-quality samples and is generally unsuitable for FFPE samples with poor RNA quality. Therefore, there is an urgent clinical need to develop more accurate, efficient, and cost-effective methods for detecting gene fusions.

Genetron’s comprehensive sarcoma genomic testing service, powered by RNA-Capseq technology, not only extends genetic testing from DNA to RNA but also enables more precise, efficient, and cost-effective detection of fusion gene mutations at the RNA level. This approach holds significant clinical value for molecular subtyping of sarcomas, targeted therapy selection, prognostic assessment, genetic risk evaluation, prediction of chemotherapy efficacy, and prediction of immunotherapy response, thereby providing precise support for the treatment guidance and management of sarcoma patients. Partial validation data have been presented at the AACR Annual Meeting, demonstrating 100% concordance with results obtained using the gold-standard FISH method.

As one of the few companies in China with R&D capabilities for original technologies, Genetron Holdings Limited is dedicated to developing innovative technologies that offer precision, high efficiency, and low consumption. The company rapidly translates these innovations into highly accessible clinical testing services and products, now covering the entire cancer care continuum—from early screening, diagnosis, and treatment guidance to monitoring and prognosis management. Currently, in terms of Laboratory Developed Tests (LDT) services, Genetron has partnered with more than 500 hospitals across China, serving tens of thousands of patients annually and driving the rapid adoption and application of Next-Generation Sequencing (NGS) technology in clinical practice. In the realm of In Vitro Diagnostic (IVD) product development, Genetron has seven products approved by the National Medical Products Administration (NMPA) for clinical use. These products span three major technology platforms—NGS, digital PCR (dPCR), and quantitative PCR (qPCR)—positioning the company as an industry leader in the number of approved IVD products.

Sarcomas are a rare group of malignant solid tumors originating from mesenchymal cells, with a predilection for children and adolescents. Accurate diagnostic subtyping is critical for the clinical management and treatment of sarcoma patients. Gene fusions represent an important molecular biological characteristic that can facilitate precise subtyping. Both the NCCN Guidelines and Chinese guidelines recommend the use of sequencing-based methods to detect gene fusions in sarcoma patients to aid in pathological diagnosis.

Genetron Holdings (NASDAQ: GTH) is a leading cancer precision medicine company in China, specializing in the research and application of cancer genomics. It is committed to transforming cancer diagnosis and treatment by leveraging advanced molecular biology and big data analytics capabilities. Genetron has built a comprehensive portfolio of products and services that cover the entire cancer care continuum, from early screening to diagnostic and therapeutic recommendations, as well as monitoring and prognosis management.