Gene Solutions, a leading Asian biotech company, has announced a significant breakthrough in cancer diagnostics with its SPOT-MAS test becoming the first multi-cancer screening blood test in Asia to complete large prospective cohort validation. The results, published in BMC Medicine, represent a major advancement in non-invasive cancer detection technology specifically validated for Asian populations.
Addressing a Critical Healthcare Gap
Early cancer detection dramatically improves survival rates, with common cancers like breast and colorectal showing survival rates exceeding 90% when caught early. However, more than 70% of cancers in low- and middle-income Asian countries are currently diagnosed at advanced stages, significantly reducing treatment efficacy and survival outcomes.
Conventional screening methods face multiple limitations, including invasiveness, limited accessibility, and single-organ focus. These approaches can also lead to high cumulative false positive rates when performed sequentially across multiple cancer types.
The SPOT-MAS test aims to overcome these challenges by offering a reliable, non-invasive blood test capable of detecting multiple cancer types simultaneously. The technology leverages next-generation sequencing (NGS) and artificial intelligence to detect circulating tumor DNA (ctDNA) released from cancer cells into the bloodstream.
Landmark K-DETEK Trial Results
From 2022 to 2024, the SPOT-MAS test underwent validation in the K-DETEK Trial, the first and largest prospective cancer screening study in Asia. The trial enrolled 9,057 asymptomatic individuals who were followed for 12 months, with 9,024 participants included in the final analysis. Notably, 42.27% of participants were classified as high-risk due to factors such as smoking, alcohol consumption, and hepatitis virus infection.
The trial demonstrated impressive clinical performance metrics:
- Overall sensitivity of 70.8% for cancerous lesions, increasing to 78.1% when combined with assessment of precancerous lesions in the digestive tract
- Specificity of 99.7% for detecting various cancer types
- Positive predictive value of 39.53% for cancerous cases and 58.1% when including both cancerous and precancerous cases
- Tumor origin prediction accuracy of 52.9% for cancerous lesions and 84.0% when combined with precancerous lesions
- Negative predictive value of 99.92%, 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," said MD. PhD. Nguyen Duy Sinh, Oncology Medical Director at Gene Solutions. "We believe this important milestone will foster more discussions with regional healthcare experts to implement the test in routine medical screening programs."
Multi-Omics and AI: A Technological Advantage
Unlike most multi-cancer early detection (MCED) tests that focus on a single ctDNA biomarker, SPOT-MAS employs a comprehensive multi-omics analysis approach. This strategy integrates genetic, fragmentomic, and epigenetic features of ctDNA to enhance cancer type coverage and improve real-world accuracy.
The test's bioinformatics platform leverages artificial intelligence to analyze the extensive data generated from these comprehensive features. By developing multiple machine learning, deep learning, and neural network models trained on data from both healthy individuals and cancer patients, the technology continuously improves test sensitivity, cancer origin classification accuracy, and cost-efficiency.
Consistent Performance Across Multiple Validations
The SPOT-MAS test has demonstrated consistent performance across various validation studies, addressing one of the most significant challenges in diagnostic development: maintaining performance when transitioning from controlled studies to real-world clinical validation.
These validations 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
- A real-world experience report of 10,577 tests conducted across Southeast Asia (Vietnam, Singapore, Malaysia, Thailand, Indonesia, and the Philippines) published in ESMO Annals of Oncology
The test has shown particular strength in detecting cancers that currently lack standard screening options, including stomach, liver-biliary tract, ovary, pancreas, esophagus, endometrium, and head & neck cancers. It also complements existing screening strategies for breast, colorectal, and lung cancers.
Future Directions and Expanded Applications
With successful validation completed, Gene Solutions is advancing 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.
Dr. Tran Le Son, R&D Lead at Gene Solutions, outlined several ongoing and planned initiatives in a recent GenomeWeb interview:
"We are conducting a multicenter validation study similar to K-DETEK but focused on symptomatic individuals suspected of having cancer," Dr. Tran explained. "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."
The company is also developing specialized versions of the test for specific cancer types. SPOT-MAS Lung and SPOT-MAS CRC will focus on lung and colorectal cancers respectively, with a multicenter validation study planned in Singapore to assess the effectiveness of SPOT-MAS Lung in both screening and diagnostic populations.
These single-cancer assays analyze ctDNA for genetic, fragmentomic, and epigenetic features, with optimized focus on signals specific to the target cancer type. This approach is expected to offer significant clinical advantages in scenarios where a specific cancer is strongly suspected, providing more cost-effective and superior screening performance compared to broader screening methods.
Expanding Collaborative Research
Beyond diagnostic applications, Gene Solutions aims to leverage its proprietary artificial intelligence platform and Asia-centric genomic database for broader research initiatives.
"Looking ahead, we are eager to collaborate more with biopharma companies," Dr. Tran shared. The company plans to apply its technology platform to discover biomarkers and therapeutic targets for personalized cancer treatments and cancer vaccines.
Gene Solutions currently partners with over 4,500 hospitals and clinics across Southeast Asia and employs approximately 250 biology experts and technicians among its 700 total employees. The company has published more than 50 peer-reviewed publications and conducted over 50 multi-center studies across the region, establishing itself as a leader in genomic medicine in Asia.
With CAP-accredited laboratories in Singapore and Vietnam, Gene Solutions is well-positioned to continue advancing multi-dimensional genomics and AI-driven approaches to transform cancer care throughout the region.
