Wuhan Union Hospital Licenses Molecular Diagnostic Patent for RMB 12 Million to KingMed Diagnostics

Recently, Union Hospital, Tongji Medical College of Huazhong University of Science and Technology (hereinafter referred to as “Wuhan Union Hospital”) issued an announcement stating that it intends to transfer the invention patent titled “Primer-Probe Combination and Kit for Detecting Common Mutation Sites of Hereditary Thrombophilia Based on ARMS-PCR Method” to Guangzhou KingMed Diagnostics Group Co., Ltd. through a general assignment at a proposed transaction price of RMB 12 million.

Professor Hu Yu, the principal inventor of this patent, is a leading scholar in the field of hematologic disease treatment in China. He not only established a distinctively Chinese “scoring system” for the diagnosis of disseminated intravascular coagulation (DIC), but also achieved breakthrough progress in CAR-T cell therapy, providing an innovative treatment regimen that can “eliminate cancer cells with a single injection” for patients with hematologic malignancies. Notably, the project “Early Diagnosis and Targeted Therapy of Thrombotic Diseases,” led by Professor Hu, increased the molecular diagnostic rate of thrombotic diseases in China from 0% to 40%, and was awarded the Second Prize of the National Science and Technology Progress Award in 2018.

The other party to the transaction, Guangzhou KingMed Diagnostics Group Co., Ltd., is a leading enterprise in China’s third-party medical testing industry. Centered on third-party medical testing and pathological diagnosis services, it leverages its core resource advantages—namely, “large-scale platform, extensive network, comprehensive services, vast sample repository, and big data”—to provide integrated medical diagnostic information services to healthcare institutions at all levels across China.

Thrombophilia is a pathological state in which individuals are predisposed to thrombus formation and thromboembolism due to hereditary or acquired factors. Its primary clinical manifestation is venous thromboembolism (VTE), including deep vein thrombosis (DVT) and pulmonary thromboembolism (PTE). In recent years, the incidence of VTE has risen significantly worldwide, affecting more than 10 million people annually, and China is no exception. According to a survey of 60 large hospitals, 36.6% of medical inpatients in China are at high risk for VTE, while this proportion reaches as high as 54.3% among surgical inpatients. The incidence of DVT is generally above 20%, particularly after knee arthroplasty, where it can reach up to 58.2%. Recurrent thrombotic events caused by thrombophilia significantly increase patient disability and mortality rates, posing a serious threat to human health.

Thrombophilia can be classified into hereditary and acquired types. Studies have shown that approximately 60% of the variability in susceptibility to venous thromboembolism (VTE) among individuals is attributable to genetic factors. Therefore, genetic testing for patients with thrombotic disorders or high-risk populations can identify carriers of thrombophilia-associated gene mutations and individuals with familial thrombophilia, thereby enabling preventive measures to reduce the incidence of thrombotic diseases. Furthermore, genetic testing provides a basis for standardized and normalized anticoagulant therapy in patients with thrombosis, facilitating personalized and precise treatment.

Currently, there are numerous methods for detecting gene mutations, including Sanger sequencing (first-generation sequencing), next-generation sequencing (NGS), capillary electrophoresis, high-resolution melting (HRM) curve analysis, digital PCR, and the amplification refractory mutation system (ARMS). However, each of these methods has its own advantages and disadvantages. For instance, Sanger sequencing offers low throughput and incurs high costs; NGS involves cumbersome procedures, long turnaround times, and high expenses; capillary electrophoresis is applicable only to insertion and deletion mutations; HRM curve analysis lacks sufficient specificity; and digital PCR is costly and has limited accessibility. In contrast, ARMS boasts high specificity, simple and rapid operation, and low cost, making it suitable for widespread adoption in hospitals.

Based on this,Professor Hu Yu’s team has developed a rapid screening kit for hereditary thrombophilia based on the ARMS-PCR method. This kit utilizes primer-probe combination sequences to rapidly detect 11 common mutation sites across five genes: PROC, PROS1, F5, THBD, and SERPINC1.. This kit is user-friendly for healthcare professionals, facilitating widespread adoption in hospitals and testing centers, with rapid report generation within 2–3 hours. Meanwhile, the 11 targeted mutation sites can be directly utilized for the diagnosis of hereditary thrombophilia and also serve as a supplement to various clinical thrombosis risk scores.

Among the various genetic testing methods, ARMS-PCR (Amplification Refractory Mutation System Polymerase Chain Reaction), as a novel PCR (Polymerase Chain Reaction)-based approach, has become one of the most important and widely used technologies in the field of cancer-specific genetic identification due to its ability to efficiently detect multiple DNA point mutations. Given the significant potential of ARMS-PCR technology, numerous innovative enterprises in China have actively invested in this field, resulting in the market launch of multiple products.

For example, the four deafness gene detection kits launched by Sino Biological in 2016 employ the ARMS-PCR method for the qualitative in vitro detection of four mutation sites associated with hereditary deafness in the human genomic DNA from blood cells. Earlier, Yaneng Bio had introduced a kit for detecting susceptibility genes to aminoglycoside-induced deafness, which utilizes the ARMS-PCR melting curve method to identify the A1555G and C1494T mutations in the mitochondrial DNA (mtDNA) 12S rRNA gene.

As a leader in China’s molecular diagnostics sector for precision oncology, AmoyDx has successfully developed two proprietary technology platforms, ADx-ARMS and Super-ARMS, leveraging its extensive expertise in ARMS-PCR technology. Notably, in 2018, AmoyDx launched the Super-ARMS® EGFR Mutation Detection Kit, the first ctDNA detection kit approved for market as a companion diagnostic. This innovation not only provides cancer patients with more precise testing options but also sets a new milestone for the entire industry.

In terms of upgrading ARMS-PCR technology, XiaohaiGui Technology launched its third-generation ARMS-PCR technology in 2022 to further enhance the practicality and specificity of the technique. This innovative technology simplifies the primer design process and employs the novel ultra-high-specificity Shenzhen™ DNA polymerase, enabling accurate recognition of single-base mismatches at the 3’ end of primers, thereby significantly improving the specificity of ARMS detection. Furthermore, the third-generation ARMS-PCR technology reduces the complexity of developing ARMS kits, making PCR kit development more streamlined, efficient, and cost-effective.

Shuwen Biology has also pioneered the highly sensitive Codar-ARMS-PCR liquid biopsy technology. Building on the inherent advantages of ARMS-PCR, such as simplicity, rapidity, and high specificity, this technological innovation significantly enhances the detection sensitivity of liquid biopsy. The technology enables simultaneous detection of mutant sequences in both DNA and RNA from blood samples. By integrating optimized high-efficiency sample extraction techniques, specific primers, and a high-efficiency enzymatic reaction system, it achieves precise detection of mutant alleles at a frequency of 0.01% (one in ten thousand) against a wild-type background.

As ARMS-PCR technology continues to evolve and improve, its application prospects in the field of precision oncology will become increasingly broad. In the future, we look forward to more innovative enterprises joining this field to jointly promote the further development and widespread adoption of targeted therapy technologies, bringing greater hope and benefits to cancer patients.