NEW YORK – Vietnamese diagnostics firm Gene Solutions is preparing to expand commercialization of its SPOT-MAS multi-cancer early detection (MCED) test following the recent publication of a clinical validation study that showed strong sensitivity and negative predictive value in a cancer screening setting.
The company also plans to apply its MCED technology in biopharmaceutical partnerships to develop targeted cancer therapies, although its more immediate goal is to further commercialize SPOT-MAS –– which stands for Screening for the Presence Of Tumor by DNA Methylation And Size –– in larger Asian markets including China and India. The test is currently commercially available in Vietnam, Thailand, Indonesia, the Philippines, Malaysia, Hong Kong, and Singapore.
Last year, the company partnered with the National Cancer Society of Malaysia to improve the awareness of and access to MCED testing.
Le Son Tran, R&D lead of Gene Solutions' SPOT-MAS technology, said that the company is conducting numerous studies of its MCED offering in order to generate a compelling base of evidence to support its commercialization efforts.
"The current challenge in the field of multi-cancer early detection is the low sensitivity of current published assays," Tran said. Overcoming that challenge, he added, will involve developing an assay that can capture as many ctDNA signatures as possible.
SPOT-MAS analyzes circulating tumor DNA for methylation patterns, fragment length variations, DNA copy number aberrations, and end motifs in a multimodal approach that Gene Solutions believes is best positioned to improve sensitivity, efficiency, and cost.
The company and collaborators from multiple Vietnamese hospitals recently completed an observational study aimed at validating the clinical utility of its SPOT-MAS MCED test in an asymptomatic population. The results of that study, dubbed K-DETEK, were published last week in the journal BMC Medicine.
In that study, 43 out of just over 9,000 participants returned positive SPOT-MAS results and were referred for imaging to confirm the presence of tumors. Among those patients, 29 had imaging results showing lesions, 17 of which were determined to be cancerous. Of those, 12 were detected at early stages and five had metastatic late-stage cancers.
The early-stage participants all underwent curative interventions, suggesting that SPOT-MAS may be useful in detecting cancers early enough to significantly improve survival outcomes.
Additionally, SPOT-MAS was able to accurately predict the tissue of origin for nine of the 17 cancer cases. Overall, the test showed a sensitivity of approximately 71 percent, specificity and negative predictive value of over 99 percent, a positive predictive value of nearly 40 percent, and tissue-of-origin accuracy of nearly 53 percent.
"The study adds to a body of work which suggests that multimodal analyses of cell-free DNA can improve cancer detection," said Viktor Adalsteinsson, associate director of the Gerstner Center for Cancer Diagnostics at the Broad Institute.
Nonetheless, Adalsteinsson, who was not involved with the study, commented that challenges remain. "Most early-stage cancers shed very little tumor DNA, and there are limits to which sensitivity can be improved without compromising specificity," he said. "It’ll be exciting to see how the technology bears out in larger studies."
Tran said that Gene Solutions has several more studies planned and ongoing, such as a multicenter validation study similar to K-DETEK but in symptomatic individuals suspected of cancer.
"In that study," he said, "we want to validate whether the test can be used in a high-risk diagnosis population. We want to complete [the study] this year and submit a manuscript by the end of this year."
The company is also planning another multicenter validation study in Singapore to evaluate the effectiveness of its SPOT-MAS Lung test in detecting lung cancer in both screening and diagnostic populations. Similar to the SPOT-MAS MCED test, the single-cancer assays analyze circulating tumor DNA for genetic, epigenetic, and fragmentomic cancer signals, the key difference being the focus on signals related to a single cancer.
"Based on the performance observed in [a] case-control study," Tran said, "we hypothesize that SPOT-MAS Lung is non-inferior to [low-dose computed tomography] in lung cancer detection. Additionally, we expect the test to demonstrate its ability to stratify high-risk symptomatic participants for diagnostic workup procedures."
Gene Solutions is also planning to launch two clinical validation studies for its colorectal and lung single-cancer tests in the near future.
Tran commented that the company is pursuing both multi- and single-cancer tests because MCED assays are not ideal in all clinical scenarios. Where one particular cancer is strongly suspected, for instance, a test for that cancer only may prove cheaper and perform better than an MCED.
The company currently offers two commercial versions of its SPOT-MAS MCED assay.
SPOT-MAS 5 detects lung, colorectal, breast, liver and gastric cancers, while SPOT-MAS 10 incorporates additional features that enable it to detect those five common cancers as well as esophageal, head and neck, endometrial, ovarian, and pancreatic cancers, which currently lack standard-of-care screening.
MCED is a rapidly evolving field with numerous groups all developing their own tests, with Grail's Galleri among the more well-known examples.
Earlier this year, for instance, cancer diagnostics firm SeekIn announced the results of a study of its two-step MCED test, comprising an initial pass with the protein-based OncoSeek screening test, followed by a more sensitive test, such as the company's own SeekInCare or Galleri. SeekIn expects this two-step approach to reduce false positives and lower cancer screening costs.
Tran said that Gene Solutions has so far sold approximately 12,000 tests for research use and 10,500 for clinical use across its various markets. He added that affordability is a key consideration in the company's efforts to expand its commercial operations, with SPOT-MAS MCED costs ranging roughly between $300 and $600, varying by country.
"For future development, we are looking forward to more biopharma collaboration," Tran said.
Gene Solutions hopes to leverage its proprietary artificial intelligence platform in forging these collaborations, by applying it to biomarker and therapeutic target discovery for personalized cancer treatments and cancer vaccines, again, focusing largely on Asian populations.
"We will not stop with screening and diagnostic testing," Tran said, "but we want to go further into collaborations with biopharma companies to develop more targeted therapies."