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GenoMe Diagnostics Preparing Digital PCR-Based Ovarian Cancer Test for US, EU, UK Submissions 


NEW YORK – Northern Ireland startup GenoMe Diagnostics will use the proceeds from a recent financing round to further validate OvaMe, its digital PCR-based early stage ovarian cancer detection test, ahead of seeking regulatory clearance for the product in the US, UK, and EU. 

The Belfast-based company also believes its technology could be used to create other early-stage detection tests for multiple cancers, as well as other diseases, according to CEO Shannon Beattie. 

"We believe our biomarker development pipeline can be used for a range of diseases and conditions," said Beattie. "Our optimization and validation pipeline is disease agnostic." 

The first test to reach clinicians, though, will be OvaMe, which relies on measuring DNA methylation markers in both tissue and liquid biopsies using droplet digital PCR technology. The technology underlying the test was developed by researchers Paul Mullan, James Beirne, and Laura Feeney at the Patrick G. Johnston Centre for Cancer Research at Queen's University Belfast. Mullan is now GenoMe's chief scientific officer, and Beirne and Feeney sit on the company's scientific advisory board. 

For more than a decade, the investigators have worked to identify methylation markers in order to guide early diagnosis of ovarian cancer, especially in high-grade serous carcinoma, the most common and aggressive form of the disease. They discussed the potential of screening liquid biopsy samples for methylation markers in a review in the World Journal of Clinical Oncology in 2020.

The work resulted in a preliminary ovarian cancer panel, one that GenoMe Diagnostics is refining while migrating the test to digital PCR "to ensure that we are using the most accurate and sensitive techniques for detection from low concentrations of DNA," Beattie said, "which is really key for an early-warning blood test."

The company's approach also involves the use of an enzymatic methodology that "enables the effective removal of the vast majority of normal background signals," said Beattie, so that the disease signal is amplified, potentially with higher sensitivity and specificity. GenoMe Diagnostics is also integrating machine learning into their biomarker discovery and biomarker combination studies, which could help to expedite their time to market, she added. 

Beattie noted that GenoMe Diagnostics is still evaluating different droplet digital PCR systems for use with its tests and does not recommend a particular platform at this moment. "This is designed to be used on the most cutting-edge, user-friendly PCR platforms," she said. 

GenoMe Diagnostics is an early-stage company. Spun out of QUB in 2020, Beattie came onboard at that time during a project supported by the UK government-backed Innovation-to-Commercialization of University Research (ICURe) accelerator program. She originally served as chief operating officer before transitioning to CEO last year.

The company raised £300,000 ($362,000) in a pre-seed round in 2021 and announced earlier this month that it had closed another £1.4 million round. According to Beattie, in addition to the seed funding, GenoMe Diagnostics has also received £260,000 in grants from InnovateUK, the UK's innovation agency, as well as a €50,000 award from IntertradeIreland's Seedcorn Investor Readiness Competition. On top of that, GenoMe Diagnostics recently received another £500,000 collaborative grant to develop other blood tests for the early detection of various cancer types in partnership with QUB.

According to Beattie, the proceeds from the new financing round will help the company validate OvaMe in blood samples. Once completed, GenoMe Diagnostics will undertake the necessary clinical studies to support submissions to regulators in the US, EU, and UK, though Beattie said that obtaining US Food and Drug Administration clearance is the company's first priority.

"For us, the FDA really enables the most simple, clear route to market for GenoMe Diagnostics," she said.

The company will then work to obtain a CE-IVD mark in Europe under its new In Vitro Diagnostic Regulation, as well as in the UK, which is transitioning to its own regulatory regime, under which IVD manufacturers will be expected to obtain a UK Conformity Assessment mark.

Beattie said that the UK and EU submissions are "highly likely to come simultaneously and at a later date" than GenoMe Diagnostics’ FDA submission for OvaMe. "We are aiming to conduct a validation of our ovarian cancer test to meet all regulatory standards, so hopefully, it's just a case of changes in documentation," she said.

Former Elucigene CEO Mark Street-Docherty was appointed executive chair of GenoMe in 2021. After Elucigene, a Manchester, UK-based IVD firm, was acquired by Yourgene Health in 2019, Street-Docherty took on executive roles in multiple diagnostics firms, including at MicrosensDx and Rosa Biotech, and now GenoMe Diagnostics.

Street-Docherty said he decided to join GenoMe Diagnostics because of the "potential step change" of using its technology to diagnose, monitor, and potentially screen cancer patients, as well as the ability to do it using digital PCR, which can be deployed in existing healthcare settings. "I feel this technology has the potential to significantly enhance patient outcomes," he said in an email.

Street-Docherty also reiterated that the company will seek FDA clearance first through the agency's Breakthrough Devices Program, which is intended for devices that provide more effective diagnosis of certain diseases or conditions. The program also allows companies to consult with the FDA to ensure that all of the parties are aligned as the new device is validated. 

Street-Docherty noted that because of the transition to the IVDR in the EU and the new regulatory framework in the UK, as well as the "ensuing notified body backlogs and uncertainties," GenoMe Diagnostics now sees the FDA as the "fastest route to technology deployment."

He added that the company intends to offer OvaMe worldwide and will work with a contract manufacturing organization to make the test, as well as selected distribution partners to market it, once it becomes available.

"In reality, the validation work required under the UKCA, EU IVDR, FDA and [the Medical Device Single Audit Program] is now extremely similar, and it is likely to lead to simultaneous submission for GenoMe Diagnostics in multiple markets," Street-Docherty said.

According to Beattie, GenoMe Diagnostics will offer OvaMe first as a reagent product intended for monitoring ovarian cancer patients for relapse or remission of the disease. She said the company will then seek to market the test for early detection of disease following a more extensive validation. Beattie declined to discuss when the test would be available in any of the aforementioned markets. 

"We are currently assessing what those timelines will look like," she said.

While it is validating its test and preparing it for regulatory submissions, GenoMe Diagnostics will also be hiring. It currently has a small core of three full-time employees, but will be adding to its headcount following the recent financing, both in R&D as well as in operations and marketing, Beattie said.

There is also the ongoing project with QUB to look into the use of its technology to detect other cancers at an early stage. Beattie said that GenoMe Diagnostics and its partners are working to assess what those cancers might be. "We are looking at what would be optimal, and where there is the most need," she said. And GenoMe Diagnostics is also interested in working with external partners to develop tests as companion diagnostics, for example. "We can apply our biomarker pipeline to a range of diseases where these methylation changes occur," she said. "That opens the door to other diseases."