NEW YORK – Backed by recently published study results, South Korean molecular diagnostic test developer Genomictree aims to soon secure regulatory approval in South Korea for its noninvasive bladder cancer test and begin clinical studies in the US.
Late last month, researchers from South Korea reported in JAMA Oncology that they evaluated Genomictree's single-target DNA methylation test for bladder cancer in a prospective multicenter study with urine samples and found that the PCR-based assay identified patients with high-grade or invasive bladder cancer with a negative predictive value of 97.6 percent and a positive predictive value of 61.3 percent.
The study was done between March 2022 to May 2024 and comprised 1,099 hematuria patients.
Genomictree CEO Sungwhan An said that the company is using the study results to support a submission to the Korean Ministry of Food and Drug Safety for approval of its test called EarlyTect for Bladder Cancer Detection (EarlyTect BCD). A special committee is conducting a final regulatory examination, and he expects that the evaluation will conclude this year.
The EarlyTect BCD assay involves the amplification and detection of the DNA methylation marker PENK. Company researchers previously said that they found PENK methylation to be common across bladder cancer tumor types and rare in patients without bladder cancer.
Genomictree reported robust performance from the test in earlier studies, which showed its ability to detect single-digit copy numbers of methylated PENK DNA without cross-reactivity with other organisms or substances.
An said that the recent study focused on the use of the test to detect high-grade or invasive cancers that are the most dangerous to patients and the most costly to treat. He said that it is important for the test to have a high negative predictive value and noted that the hematuria patients who have positive results are referred for confirmatory cystoscopy and histology.
While Genomictree gains regulatory experience in South Korea, the company also has its eyes on the US market, An said. Genomictree has been in talks with a researcher at an unidentified US university who may serve as the principal investigator for the firm's US clinical studies, and An noted that the firm has already secured breakthrough device designation from the US Food and Drug Administration through its Promis Diagnostics subsidiary.
The designation helps firms to move more quickly through FDA regulatory processes and enter the US market, and An said that agency officials have provided guidance on clinical trial design and objectives, and he expects that a trial will begin in five or six months.
The company plans to submit the EarlyTect BCD test through the agency's premarket approval pathway. Promis Diagnostics already offers the assay as a laboratory-developed test, although An said that it has been difficult to secure many orders without insurance coverage for the test.
The company has been in discussions with the Centers for Medicare and Medicaid Services and the MolDx program, who are evaluating the test. Genomictree will provide data on the validity and utility of the tests during the ongoing evaluation. The EarlyTect BCD test has a proprietary laboratory analyses (PLA) code and is priced at $192.
In the recent JAMA Oncology article, researchers used the test on urine samples from patients aged 40 years or older ahead of cystoscopy. Among the 1,099 participants, 219 received a diagnosis of bladder cancer including 176 with high-grade or invasive cancer.
The EarlyTect BCD test was used to detect high-grade or invasive bladder cancer and demonstrated a sensitivity of 89.2 percent and specificity of 87.8 percent. Used for the overall detection of bladder cancers, the test had a sensitivity of 78.1 percent and specificity of 88.8 percent. The authors wrote that the test showed higher sensitivity than commercially available nuclear matrix protein 22 (NMP22) testing or urine cytology, and it had a higher negative predictive value for high-grade or invasive cancers as well as overall bladder cancers, although they said that the positive predictive value for the DNA methylation test was suboptimal.
Hematuria, or blood in the urine, is a common symptom of bladder cancer as well as various other causes. An said that many patients with hematuria are reluctant to undergo cystoscopy, which is invasive and uncomfortable, while more than 90 percent of the patients who undergo the procedure are negative for cancer.
By using the EarlyTect BCD test, healthcare providers could both provide testing to hematuria patients who would decline cystoscopy but should get it, as well as potentially steer patients away from cystoscopy because they don't need it.
An added that Genomictree has also developed a PCR-based bladder cancer recurrence and monitoring test for the detection of two sites on the DNA methylation marker PENK rather than the single site that is used for EarlyTect BCD. He said that in early results the test has demonstrated increased sensitivity compared to EarlyTect BCD.