NEW YORK – Eone-Diagnomics Genome Center is widening its focus in the genomics space by developing a suite of liquid biopsy products for several cancer applications, including early-stage screening.
The South Korean firm expects to apply for in vitro diagnostic clearance with the country's Ministry of Food and Drug Safety for a methylation-based assay, with which it expects to eventually replace its current multiomics screening assay in 2022.
EDGC is an international joint venture established in 2013 by San Diego-based precision genomic medicine solutions provider Diagnomics and South Korean clinical laboratory Eone Life Science. The firm currently provides clinical and consumer genetics products and services, including a noninvasive prenatal testing, or NIPT, newborn genetic screening, and a direct-to-consumer assay called Gene2me that establishes a patient's cancer risk status.
According to Min Lee, EDGC's co-CEO and cofounder, the firm started exploring the use of cell-free DNA, or cfDNA, to diagnose diseases when the company was developing NIPT tests, including its Gen Screen assays, to detect fetal chromosome abnormalities in maternal blood. After launching the NIPT assay in South Korea, the firm began to focus on using the technology to develop assays, branded under OncoCatch, for the oncology space.
EDGC's first liquid biopsy assay, called OncoCatch-S, combines copy number variant, or CNV, detection, genomic analysis, and proteomic analysis for early-stage lung cancer screening. Initially branding the assay as EDGE S-CAN, EDGC validated the laboratory-developed test on an internal cohort of lung cancer patients before it launched the test in Hong Kong in 2019. The firm subsequently expanded the test to other parts of Asia including South Korea.
Lee said that the workflow for OncoCatch-S begins with a physician collecting a 10 ml tube of a patient's blood sample, which is shipped to EDGC's lab in Incheon, South Korea. The sample then undergoes a multiomic analysis, where the assay generates a CNV score and quantitative cfDNA measurements and identifies cancer-specific proteins linked to lung cancer.
He added that the workflow has a two-week turnaround time and is offered to "premium and concierge clinics" in Asian countries.
Methylation expansion
EDGC is also developing a new methylation-based assay called OncoCatch-E, which uses a methylation-specific restriction enzyme, or MSRE, method that Lee explained minimizes sequencing but focuses on a subset of methylation markers across the patient's genome. He noted that one of the major advantages of using the MRSE method is that it will potentially help establish the cancer's tissue of origin. Methylation markers have previously been found to potentially predict likelihood of recurrence in some cancers.
Lee said EDGC developed a "proprietary, simple, and efficient protocol" to perform enzyme digestion, adaptor ligation, and library preparation for downstream sequencing analysis. The firm's method only sequences the methylated site, which he noted standardizes all of its panels with the subset of demethylated signals.
"We also developed robust machine learning algorithms to do the sequencing analysis to measure the specific methylation pattern to calculate [the risk for] each cancer, as well as [the] potential tissue of origin," he added.
Although Lee acknowledged that the test's performance varies depending on the different cancer type and stages, he said that his team has seen over 90 percent sensitivity and specificity over multiple cancers in their earliest stages. EDGC is preparing to submit clinical validation data on the OncoCatch-E for lung, breast, and colon cancers, but he declined to disclose additional data at this time.
EDGC has filed for several patents under the OncoCatch umbrella, including what Lee described as the firm's proprietary sample prep, enrichment, and methylation workflows. The company has also trademarked names for cancer screening and other applications it expects to tackle in the future: OncoCatch-S, OncoCatch-E, OncoCatch-CDx (to help doctors select proper cancer treatment for patients), and OncoCatch-M (monitoring for relapse and the effects of anti-cancer treatments).
Lee's team will initially focus on improving the platform for early-stage screening applications. EDGC is "also working very hard to combine our methylation analysis and other genomics analysis with non-genomic analysis, which includes blood-[based] analysis … and doing a lot of machine learning to enhance the existing technology."
To that end, EDGC is collaborating with undisclosed healthcare partners to combine OncoCatch-E with imaging analysis, such as MRI and computerized tomography, for early-stage cancer diagnosis.
However, EDGC will enter a crowded field with its OncoCatch-E assay, as several other firms are further investing in their own methylation-based platforms for early-stage cancer diagnosis. While Lee likened OncoCatch-E to Grail's Galleri assay due to its potential use for multicancer screening, he believes that EDGC's assay stands out due to its proprietary enrichment method for downstream methylation and ability to potentially identify the tissue of origin.
Noting that the LDT version of the OncoCatch-S has a price of roughly $1,000, Lee expects that the upcoming OncoCatch-E to roughly cost between $500 to $1,000. Because OncoCatch-E can be used as a multicancer screening tool, he believes EDGC may phase out OncoCatch-S when it launches the methylation-based test.
While EDGC has validated OncoCatch-E in lung cancer, the firm is actively searching for clinical study partners in South Korea and the US to eventually validate the test for 10 different cancer types. Lee said that EDGC is in discussions with European partners and will most likely kit its suite of OncoCatch assays through tech transfer agreements, but he noted the firm could also explore building its own European lab in the future.
In addition to working with reference lab partners in Asia to establish tech-transfer agreements, EDGC expects to launch the two tests in the US as LDTs out of a planned CLIA-certified lab — separate from Diagnomics — next year.