Genetron Health's IDH1/TERT Glioma Gene Detection Kit: The World's First Approved IVD for Glioma Molecular Profiling

As early as December 2017, Genetron Health’s independently developed “Human IDH1 Gene Mutation Detection Kit” and “Human TERT Gene Promoter Mutation Detection Kit” (hereinafter referred to as the IDH1/TERT Gene Detection Kits) were reviewed and approved by the China Food and Drug Administration (CFDA), becoming the world’s first approved detection kits applicable for IDH1/TERT gene testing in glioma.

Notice of Product Production Approval

Hotspot mutations in the IDH1 and IDH2 genes were first discovered in 2009 by Professor Hai Yan, Chair Professor at Duke University in the United States and Co-founder and Chief Scientist of Genetron Health, along with his collaborators, in patients with adult glioblastoma (a malignant brain tumor). The findings were published in Science and the New England Journal of Medicine.

In 2013, Professor Yan Hai further discovered that TERT promoter mutations are key drivers in various common tumors. This mutation serves as another important basis for the molecular classification of gliomas, and the findings were published in PNAS.

Subsequent studies have shown that mutations in the IDH gene and the TERT promoter can molecularly classify approximately 80% of glioma patients.

Based on this, in 2016, Professor Yan Hai was invited by the World Health Organization to participate in the development of the new edition of the WHO Classification of Tumours of the Central Nervous System guidelines, incorporating molecular classification criteria for brain tumors such as IDH1/2 mutations.

This marks the first time in human history that molecular subtyping has been incorporated into the gold standard for brain tumor diagnosis.

Following the discovery of IDH mutations and TERT promoter mutations, Professor Hai Yan and his collaborators identified two new molecular subtypes of glioblastoma in 2018, thereby largely completing the mapping of the glioblastoma genomic landscape. These findings were published in Nature Communications; additionally, a comprehensive “encyclopedic” review on IDH led by Professor Hai Yan was published in Cancer Cell in 2018.

This study primarily focuses on preclinical and clinical research of IDH inhibitors in gliomas and acute myeloid leukemia (AML), and describes potential alternative therapeutic approaches and immunotherapy for tumors harboring IDH1/2 mutations.

Since its inception, Genetron Health has positioned itself across the full spectrum of precision oncology care, striving to build a “services + products” business model, and has deployed molecular testing services and products for multiple cancer types:

Testing Services

The company has established a leading position in the field of nervous system tumors and is accelerating its expansion into cancer types that are prevalent and unique to the Chinese population, including those of the respiratory, digestive, and urinary systems.

Meanwhile, they are also making continuous strides in the fields of liquid biopsy and early cancer screening. Genetron Health has taken the lead in launching two cerebrospinal fluid-based liquid biopsy products, as well as China’s first gene testing product for urothelial tumors based on liquid biopsy technology, enabling early detection and dynamic monitoring.

IVD Products

In addition to the two assay kits launched this time, the GENETRON 3D Biochip Reader (Registration No.: Yu Xie Zhu Zhun 20172400136) was also approved for market launch in late 2017.

In the future, Genetron Health will continue to launch IVD products applicable to a wider range of cancer types and technical platforms, leveraging its robust capabilities to build a seamless closed loop from basic research in cancer genomics to clinical applications.