Gene Solutions, a leading biotech company in Asia, proudly announces a groundbreaking achievement in cancer early detection. 

Common cancers like breast and colorectal have survival rates greater than 90% if detected early ⁽¹⁾. However, over 70% of cancers in low- and middle-income Asian countries are diagnosed at a late stage ⁽²⁾. Conventional image-based screening has limitations, including being invasive, less accessible, and focused on a single organ, which can lead to a high cumulative false positive rate when performed sequentially ⁽³⁾.

SPOT-MAS aims to improve this by providing a reliable, non-invasive, multi-cancer blood test. The test incorporates next-generation sequencing (NGS) and artificial intelligence technologies to detect circulating tumor DNA (ctDNA) released from cancer cells into the bloodstream.

Previously, SPOT-MAS established laboratory technology and analytical validation from 2018 to 2021. From 2022 to 2024, the SPOT-MAS test underwent the landmark K-DETEK Trial. This trial was the first and largest prospective cancer screening study in Asia, where 9,057 asymptomatic individuals were followed up for 12 months. After exclusions, 9,024 participants were analyzed, with 42.27% classified as high-risk due to factors such as smoking, alcohol consumption, and hepatitis virus infection.

The Third Worldwide and the First Clinically Validated Multi-Cancer Early Detection (MCED) Test in Asia:

While two other MCED tests have undergone prospective validation in the United States, the K-DETEK trial uniquely offers clinical data tailored to the Asian population. Despite the high expectations surrounding MCED tests worldwide, one of the most significant challenges is preserving performance when transitioning from controlled studies to real-world clinical validation.

The SPOT-MAS test rises this challenge, demonstrating consistent performance across various validation studies. These include a case-control study with 2,288 participants published in eLife, the K-DETEK clinical trial with 9,024 participants published in BMC Medicine, and a real-world experience report of 10,577 tests conducted across Southeast Asia (Vietnam, Singapore, Malaysia, Thailand, Indonesia, and the Philippines) in ESMO Annals of Oncology ^(4,5,6). Additionally, the trial highlights the test's ability to detect precancerous lesions in the colon, offering opportunities for early intervention and active prevention of colorectal cancer.

Remarkable Data from the Trial ^(5,7):

• High Sensitivity and Specificity: The SPOT-MAS assay demonstrated an overall sensitivity of 70.8% for cancerous lesions and 78.1% when combined with the assessment of precancerous lesions in the digestive tract, with a specificity of 99.7% for detecting various cancer types.
• Remarkable Predictive Value: The trial showed a positive predictive value of 39.53% for cancerous cases and 58.1% when including both cancerous and precancerous cases. The tumor origin prediction, based on the algorithm and machine learning model, had an accuracy of 52.9% for cancerous lesions and 84.0% when combined with precancerous lesions. The negative predictive value was an impressive 99.92%, ensuring accurate screening while minimizing unnecessary follow-ups.

"SPOT-MAS is the first MCED test in Asia to provide real-world clinical evidence for cancer screening, offering the validation data needed for region-specific populations and demonstrating the test's clinical utility. We believe this important milestone will foster more discussions with regional healthcare experts to implement the test in routine medical screening programs." said MD. PhD. Nguyen Duy Sinh, Oncology Medical Director at Gene Solutions.

Innovative Multi-Omics & Artificial Intelligence Approach

Most MCED tests focus on a single circulating tumor DNA (ctDNA) biomarker detected through Next-Generation Sequencing technology. SPOT-MAS employs an innovative multi-omics analysis approach that integrates genetic, fragmentomic, and epigenetic features of ctDNA. This comprehensive strategy enhances cancer type coverage and improves real-world accuracy.

The bioinformaticians behind the SPOT-MAS test leverage artificial intelligence (AI) to analyze the extensive data generated from these comprehensive features. By developing multiple machine learning, deep learning, and neural network models, they continuously train on labeled data from healthy individuals and cancer patients. This multi-modal AI technology further improves test sensitivity, accurately classifies cancer origins, and optimizes cost-efficiency for the multi-omics analysis approach.

Future Innovations and Collaborations

The SPOT-MAS test has demonstrated strong performance in detecting deadly cancers that lack standard screening options, such as cancers of the stomach, liver-biliary tract, ovary, pancreas, esophagus, endometrium, and head & neck. It also complements existing screening strategies for breast, colorectal, and lung cancers. With this successful validation, Gene Solutions is moving forward with plans to integrate SPOT-MAS into daily clinical practice. The company is collaborating with leading hospitals, regulators, and research institutions to expand access and adoption in both public and private healthcare sectors.

As shared in a recent interview with GenomeWeb⁽⁸⁾, Dr. Tran Le Son, R&D Lead at Gene Solutions, outlined the upcoming plans for the technology:

• Ongoing and Planned Studies: Gene Solutions is conducting and planning several additional studies, including a multicenter validation study similar to K-DETEK but focused on symptomatic individuals suspected of having cancer. "In this study, we aim to validate the test's effectiveness in a high-risk diagnostic population. We plan to complete the study and submit a manuscript by the end of this year," Dr. Tran explained.
• SPOT-MAS Lung and SPOT-MAS CRC: Another multicenter validation study is planned in Singapore to assess the effectiveness of the SPOT-MAS Lung test in detecting lung cancer in both screening and diagnostic populations. Like the SPOT-MAS MCED test, the single-cancer assays analyze ctDNA for genetic, fragmentomic, and epigenetic features, with an optimized focus on signals specific to lung cancer or colorectal cancer. The single-cancer approach is expected to offer significant clinical advantages in specific scenarios. For instance, when a specific cancer is strongly suspected, a test tailored exclusively for that cancer will be more cost-effective and deliver superior screening performance, such as higher sensitivity and specificity, compared to broader screening methods.
• Biopharma Collaborations: "Looking ahead, we are eager to collaborate more with biopharma companies," Dr. Tran shared. Gene Solutions aims to leverage its proprietary artificial intelligence platform and Asia-centric genomic advantages to discover biomarkers and therapeutic targets for personalized cancer treatments and cancer vaccines.