NEW YORK – Genomadix, a Canadian firm advancing rapid PCR technology previously developed by Spartan Bioscience, is eyeing new applications for its Cube system, having established its first toehold in clinical diagnostics with a US Food and Drug Administration-cleared test for CYP2C19 genotyping last year.
The company has carved out a unique niche, according to CEO Steve Edgett, with a simplified, handheld instrument that allows for true PCR chemistry, rather than another form of nucleic acid amplification.
According to Edgett, even under the Spartan flag years ago, the company's aim was to see its platform helping to personalize care for patients in the clinic.
"We're somewhat differentiated with our platform in the fact that this is a true PCR platform," he said in an interview this week. "In the infectious disease world, getting a platform that's maybe 96 percent sensitive with an isothermal amplification is great. But in our application, where we're focused on genotyping for precision medicine, it's difficult to achieve that level of sensitivity without the gold standard, true PCR."
"There's a subset of precision medicine tests where it makes sense to actually have a response quickly, like for a stroke patient, where you need to prescribe an anti-platelet therapy within hours," said Edgett. "We're not saying that we're going to be the solution for all precision medicine … but there are subsets of tests that are really well suited for an instrument like this."
The company is now working to add new CYP2C19 customers, to support users in expanding the test into additional indications, and to pursue additional regulatory clearances for the Cube instrument, the first of which is a test for APOE variants.
CYP2C19 emerged as a promising target in recent years, as evidence began to collect supporting the clinical utility of testing for variants in the gene before prescribing the blood thinning drug clopidogrel to patients experiencing a small stroke or temporary ischemic attack.
Stanford Medical Center was one of the first adopters, announcing last month that it was using the Genomadix Cube to proactively test stroke patients before administering treatment.
According to Edgett, Stanford is not alone. Although he said he couldn't disclose the company's full list of users, he did say that it includes hospitals and health systems across the US and in Europe and the UK.
Edgett added that utilization has been much higher than the company originally expected. One early adopter willing to be named is the Spartanburg Regional Health System in South Carolina.
Edgett said that Genomadix was somewhat sidelined by the COVID-19 pandemic, during which it pivoted to infectious disease testing. But, in the end, the timing ended up benefiting the company in some ways. As the public health emergency eased, new data began to emerge supporting the clinical utility of rapid CYP2C19 testing, including the CHANCE-2 study, published in 2021 in the New England Journal of Medicine, which found that patients' risk of stroke at 90 days was lower when those with relevant CYP2C19 variants got the alternative blood thinner ticagrelor instead of clopidogrel.
There also were large meta studies published during the time frame, which ultimately led to a statement by the American Heart Association endorsing 2C19 testing in patients with acute coronary syndrome or those undergoing percutaneous coronary interventions.
"Basically, while the whole world was distracted, there were really important developments that were happening in the background that ultimately led to 2C19 moving from being an interesting potential point-of-care market to the time being now," Genomadix Chief Scientific Officer Jeremy Bridge-Cook said.
Coincidentally, Edgett added, cost-effectiveness research taken up by the UK also culminated around the same time, leading to the UK National Institute for Health and Care Excellence recommending genetic testing for patients with ischemic stroke or transient ischemic attack prior to prescribing clopidogrel.
"The combination made the case that the patient wins, the payer wins, the hospital wins. It just made for a very compelling story for the implementation and adoption of this testing," he said.
According to Edgett, one area for growth that Genomadix is now eyeing is expanded use amongst existing customers with other clinical niches potentially embracing the Cube once it is brought in-house for the established TIA indication. Clopidogrel effectiveness is also a concern for cardiologists in the context of stent placement, for example.
Although there may not be the same need for rapid testing in these other contexts, what Genomadix is seeing is that once its system is in place in a hospital, there are various reasons other specialties might gravitate toward a simple testing solution with noninvasive sample collection.
Alongside supporting customers making these forays, the company has a second clinical application that it now plans to bring to the FDA — testing for variants in APOE, which can make patients eligible for certain drugs to treat dementia and Alzheimer's disease.
Edgett said that a significant amount of validation has already been completed for this use case, with the Cube having been employed in clinical trials of APOE-targeted treatment.
"We now have monoclonal antibodies that have been approved … that have a label requirement for doing an APOE genotyping test, [and] we already have a [research-use-only] test that's been brought up and was instrumental in being used across memory clinics in the US for the clinical studies and trials of these drugs," said Edgett.
Taking this existing RUO product through the FDA's 510(k) pathway is now a key focus for the company, he added.
Beyond APOE, Bridge-Cook said that CYP2C9 testing is another promising target due to a similar need for rapid, in-house testing.
"CYP2C9 is very relevant for NSAID drugs, so anything from ibuprofen to Celebrex," Bridge-Cook said. The Clinical Pharmacogenetics Implementation Consortium "has already put out a recommendation based on the evidence that says that NSAIDs should really be dosed according to 2C9 genotype, so the guidance already exists, the reimbursement already exists," he said, adding that there are "a number of significant adverse events that occur with these drugs."
Although the rate of each individual adverse event isn't high, he added, in aggregate, they end up affecting as much as 8 percent of patients, especially with prolonged use.
"In this case, testing could be at a primary care doctor's office, in clinics … in a whole variety of settings, because these medications are used virtually everywhere. So that's another interesting application where having a very affordable and easy to use device could be a game changer," Bridge-Cook said.
Genomadix has plans beyond designing and developing assays internally, Edgett added. Its aim is to also market the Cube platform to other groups or firms to support their own assays, potentially across other disease areas like oncology or infectious disease. "We've taken a deliberate step back after we acquired Spartan, and we actually created an open platform version of the of the Cube that we can license in strategic partnerships," Edgett said.
The company has been approached, for example, by one outside group with an oncology test for bladder cancer screening, which would benefit from the ability to be performed in a physician's office lab. It's also been in discussions with another company regarding a marker set associated with hypertension.
Edgett said that balancing its business in these two separate arms is a strategic move to ensure it has multiple avenues for revenue generation.
According to Edgett, Genomadix believes it can potentially achieve profitability in 2025. "We're not far off getting our head above water," he said.
In the immediate future, the company will seek what he dubbed "smaller financing" opportunities, but it does also have aspirations, when it meets certain milestones, to do a larger raise that would support accelerated growth. Edgett didn't detail whether the company has raised any venture financing thus far apart from its launch, which was supported by an undisclosed amount from investment firm Casa-Dea.