On February 26, the National Medical Products Administration (NMPA) approved the registration of Genecast's "Human 8-Gene Mutation Joint Detection Kit (Reversible Termination Sequencing Method)." This kit can be used for in vitro detection of EGFR, ALK, ROS1, KRAS, PIK3CA, BRAF, ERBB2, and MET exon 14 skipping mutations in patients with non-small cell lung cancer (NSCLC) and colorectal cancer (CRC). Notably, this kit is the first NMPA-approved companion diagnostic product in China that utilizes DNA & RNA co-sequencing and is applicable to both NSCLC and CRC. It is expected to become the preferred choice for initial testing in patients.

The clinical validation process for this kit spanned three years and involved nearly 3,000 clinical samples across eight medical centers. In comparative studies with the Sanger sequencing method (the gold standard), the kit demonstrated an overall concordance rate of over 99%. Its limit of detection (LoD) for SNVs/Indels reached as low as 1%, while for fusions, it achieved an LoD of 100 copies/50ng.

With robust R&D capabilities, this kit has achieved a breakthrough in China's NGS companion diagnostic kit sector after a six-year gap. This milestone accomplishment not only fills multiple gaps in the field of companion diagnostics but also signifies a major technological advancement and innovation in domestic NGS-based tumor gene detection, marking a solid and crucial step forward.

Highlight 1: Comprehensive Coverage

Given current medical diagnostic practices, essential genetic testing for most cancer patients is no longer limited to a single gene. This kit enables simultaneous detection of multiple tumor-related genes, with approved companion diagnostic applications covering SNVs, INDELs, and FUSIONS, providing physicians with a more comprehensive understanding of a patient’s condition to guide precise treatment decisions. This advancement holds significant implications for improving survival rates and quality of life for cancer patients. Notably, the kit supports companion diagnostics for nine anti-tumor drugs—the highest number among currently approved domestic products. Specifically:

For NSCLC: 

• EGFR exon 19 deletions (19Del) and L858R mutations guide therapy with gefitinib, icotinib, osimertinib, afatinib, and erlotinib.

• EGFR T790M mutations are indicated for osimertinib.

• ALK and ROS1 rearrangements (fusions) inform treatment with crizotinib.

• MET exon 14 skipping mutations are linked to glumetinib and tepotinib.

For CRC:

• Wild-type KRAS status is indicated for cetuximab therapy.

This multi-gene, multi-drug approach underscores the kit’s clinical versatility and value in precision oncology.

Highlight 2: Rapid Turnaround

This kit features a streamlined, user-friendly workflow with only two core amplification steps, making it easy to master even for lab technicians with minimal experience. From sample extraction to final report generation, the entire process can be completed in just 24 hours—without the need for tube transfers during reactions.

Clinical Impact:

• For Patients: Faster results enable physicians to swiftly develop personalized treatment plans, helping to curb disease progression and secure critical early intervention.

• For Labs: The simplified workflow reduces operational burdens on pathology departments, enhancing overall healthcare efficiency and service quality.

(Key advantage: Combines speed with simplicity to optimize both patient care and lab productivity.)

Highlight 3: Superior Performance

Given the diversity and complexity of genetic variants in real-world settings, single-method testing often fails to capture all alterations. While DNA testing matches capture-based methods in sensitivity for hotspot mutations, RNA analysis demonstrates superior sensitivity in detecting gene fusions. Thus, DNA & RNA co-sequencing significantly enhances comprehensive variant detection across multiple alteration types.

Traditionally, combined DNA-RNA NGS testing required sequential or parallel workflows—separately extracting, preparing libraries, and sequencing DNA and RNA from tumor samples. This approach not only increased costs but also demanded more sample material and prolonged turnaround times, limiting widespread adoption.

The newly approved kit innovatively achieves NGS co-detection of DNA and RNA in a single workflow. It maintains:

• Equivalent sample input and turnaround time to single-analyte tests

• High RNA-level detection efficiency

• Enhanced clinical practicality

By eliminating workflow redundancies, this breakthrough expands access to precise targeted therapies, offering patients more timely treatment opportunities.

Highlight 4: Cost-Effectiveness

Recognizing the precious nature of clinical specimens, this kit employs a multiplex amplification approach requiring only 10ng each of DNA and RNA, dramatically reducing sample consumption.

Key Advantages:

1、Resource Efficiency

• Enables simultaneous detection of multiple genes and variant types in a single reaction

• Compared to qPCR products:

• Preserves valuable sample resources

• Reduces testing costs by ~30% (estimated)

2、Space-Saving Workflow

• Minimal lab footprint: requires only a standard PCR instrument

• Eliminates need for ancillary equipment (e.g., sonicator, vacuum concentrator)

3、Sequencing Economy

• Proprietary core technology enhances amplification uniformity

• Achieves reliable results with 30% less sequencing data vs conventional NGS

• Lowers per-test sequencing costs while maintaining accuracy

This optimized design makes NGS testing more accessible for routine clinical use without compromising quality – particularly crucial for resource-limited settings.

Prior to this approval, Genecast already possessed China's first NGS companion diagnostic kit specifically designed for colorectal cancer. This newly approved product will further strengthen the company's capabilities in lung cancer companion diagnostics, once again demonstrating Genecast's exceptional expertise and relentless pursuit in expanding both the depth and breadth of tumor drug companion diagnostics.