[E-Daily Reporter NA EUN-KYUNG ] The flagship product of Genomictree Inc.(228760), a domestic in vitro molecular diagnostics company, is the “EarlyTec-C,” a device for the early diagnosis of colorectal cancer. Although it received approval from the Ministry of Food and Drug Safety in 2018 and was launched in 2019, it took approximately 20 years of research, development, and validation before the product reached the market. This was the result of validating a biomarker discovered shortly after the company’s founding and shifting the development focus from blood-based diagnostics to stool-based testing.

Oh Tae-jeong, Director of the Genomictree Inc. Research Institute and a founding member of the company, recently met with PharmDaily at the company’s headquarters in Yuseong-gu, Daejeon. “After CEO Ahn Seong-hwan completed his Ph.D. at the University of Texas, he worked as a researcher at Stanford University School of Medicine, where he researched deoxyribonucleic acid (DNA) microarray technology to identify biomarkers by simultaneously comparing the genetic differences between cancerous and normal tissues,” he said. “Through that experience, he became convinced of the growth potential in the field of early cancer diagnosis and the potential of DNA-based biomarker technology, and based on this, he founded Genomictree Inc. in 2000,” he said.

DNA microarrays, which were state-of-the-art technology at the time, are a technique for identifying biomarkers by simultaneously comparing genetic differences between cancerous and normal tissues. Today, they are regarded as the starting point for the discovery of cancer diagnostic biomarkers and genomics-based precision medicine, and they laid the foundation for subsequent advancements in cutting-edge genomic analysis technologies, such as next-generation sequencing (NGS).

‘EarlyTec-C’: The Result of 20 Years of Perseverance

In its early days, the company focused primarily on colorectal cancer. Through a national R&D project conducted in 2004 with researchers from Yonsei University Severance Hospital, the company identified the SDC2 methylation biomarker, which is now the core of EarlyTec-C. SDC2 (Syndecan-2) is a gene in which DNA methylation frequently occurs in colorectal cancer, and Genomictree Inc. developed a molecular diagnostic test that screens for colorectal cancer by detecting methylated SDC2 DNA in stool samples.

However, discovering an excellent biomarker and creating a product that could be used in actual clinical practice were two entirely different challenges. The process of repeated validation using clinical samples, demonstrating clinical validity, and optimizing the testing method continued for several years.

The biggest turning point in the development process was the moment the company boldly abandoned the blood-based diagnostic approach. Genomictree Inc. had initially pursued a blood-based colorectal cancer diagnostic but struggled to achieve sufficient reproducibility. Subsequently, in 2014, when Exact Sciences’ stool-based colorectal cancer test, “Cologard,” received approval from the U.S. Food and Drug Administration (FDA), the company shifted its development focus to a stool-based approach.

Director Oh stated, “The performance in detecting biomarkers was much more stable in stool than in blood, so we ultimately shifted our focus to stool-based testing,” adding, “During this process, we also developed our proprietary technology (LTE-qMSP) capable of sensitively detecting even trace amounts of methylated DNA.”

LTE-qMSP (Linear Target Enrichment-quantitative Methylation-Specific PCR) is Genomictree Inc.’s proprietary technology that detects methylated DNA with high sensitivity even in samples—such as stool or urine—where cancer DNA is present in extremely small amounts. While conventional PCR amplifies only weak genetic signals, LTE-qMSP is designed to detect even trace amounts of methylated DNA signals with greater sensitivity. This significantly reduces the likelihood of missing cancer signals, even in cases where cancer cells are scarce, such as in early-stage cancer.

Consequently, after completing a pilot study in 2017, the company entered clinical trials for approval by the Ministry of Food and Drug Safety and obtained product approval in 2018. This marked the culmination of over a decade of validation and technological refinement, beginning with the initial discovery of the SDC2 biomarker in 2004 and leading to the commercialization of the actual product.

Screening Over Diagnosis… Creating a New Market

Following the commercialization of EarlyTec-C, the company expanded the range of applicable cancer types based on its accumulated methylation platform. The first target for expansion was bladder cancer. There is a reason why Genomictree Inc. selected colorectal and bladder cancers as its priority commercialization targets.

The products developed by Genomictree Inc. are closer to auxiliary diagnostic tests that screen for high-risk groups for cancer than to tests that definitively diagnose cancer. The company determined that cancers where a positive test result can be easily confirmed via endoscopy are more favorable for commercialization. Standard diagnostic methods—colonoscopy for colorectal cancer and cystoscopy for bladder cancer—are already well-established.

Director Oh explained, “Our test is a ‘rule-out’ test that screens out people who are highly unlikely to have cancer, rather than detecting cancer itself,” adding, “For such tests, sensitivity and negative predictive value—ensuring that actual cancer patients are not missed—are more important than specificity, which identifies non-patients.”

The cancer screening market that Earlytec is targeting is still in its early stages of growth. Therefore, short-term challenges include the need for changes in medical professionals’ perceptions, expansion of the health screening market, and support from the insurance system. On the other hand, once the market fully takes shape, companies that succeed in early commercialization are likely to secure strong market dominance based on clinical data and references—a key advantage for first-movers.

The DNA methylation technology accumulated over the past 20 years is now expanding into new areas beyond colorectal and bladder cancers. The company is currently pursuing the inclusion of EarlyTec-C in the national health insurance coverage while broadening its business scope to include the development of diagnostic products for prostate and lung cancers, as well as research into a messenger RNA (mRNA) therapeutic platform.

Director Oh stated, “At first, even identifying a single biomarker was no easy task, but thanks to the research experience and clinical data accumulated over the past 20 years, the pace of expansion into new cancer types has accelerated significantly compared to the past.” He added, “Building on the platform competitiveness we’ve established in the diagnostics field, we will continue to demonstrate our capabilities one by one in the therapeutics field as well.”