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Oxford Nanopore Diagnostics Aims to Develop Clinical Diagnostic Tools


BALTIMORE – Harnessing the momentum of its recent advances in clinical translational research and COVID diagnostics, Oxford Nanopore Technologies plans to develop validated clinical diagnostic tools with the help of a newly established subsidiary, Oxford Nanopore Diagnostics.

In a conference call on Tuesday recapping the company’s 2021 financial results, Oxford Nanopore CEO Gordon Sanghera highlighted recent successful applications of the firm's nanopore sequencing technology in clinical translational research — including infectious disease, oncology, rare hereditary disease, and critical-care rapid sequencing — while offering some insights into the new OND branch, which the firm established last year.

“The OND team is a separate tech and commercial team,” Sanghera told investors, adding that its goal is to market the nanopore sequencing technology “to the traditional big players to see where there is going to be traction.” Additionally, he said, since the nanopore technology is “really there to solve real-time, point-of-care, multi-drug resistance,” this is “thematically an area” that the company will be focusing on.

Oxford Nanopore said its customers have demonstrated the diagnostic potential of its technology in multiple disease areas. For instance, using the adaptive sequencing method, researchers in Heidelberg, Germany, and their collaborators have developed RAPID-CNS2, which can achieve comprehensive mutational, methylation, and copy number profiling of central nervous system (CNS) tumors with a single sequencing assay, according to the firm.

Also using the adaptive sequencing feature, Ira Deveson, head of genomics technologies at Australia’s Garvan Institute of Medical Research, and collaborators have developed a MinIon test that can screen for genes associated with more than 50 short tandem repeat expansion disorders in a single test, Oxford Nanopore noted.

In addition to cancer and genetic diseases, the company is also tapping nanopore sequencing for its potential in infectious disease diagnosis. For example, the firm said it is collaborating with “a global network of partners” to address drug-resistant tuberculosis by developing a single test that can detect more than 200 drug resistance-associated mutations in less than seven hours. According to Sanghera, in 2021, Oxford Nanopore completed an evaluation of 400 clinical samples with desirable specificity, sensitivity, clinical accuracy, and turnaround times. The next step for this program, run at three centers, is to analyze 900 samples.

Moreover, researchers from Guy's and St Thomas' Hospital in London have evaluated a same-day nanopore sequencing workflow to identify secondary infections in intensive care patients, “resulting in the potential for actionable information in hours rather than the days that it takes to grow a culture,” the company said.

With its PromethIon 2 (P2), slated to be launched later this year, Oxford Nanopore is also eyeing the rapid whole-genome clinical sequencing market. Using real-time cloud computing and multiple PromethIon flow cells, Oxford Nanopore researchers, together with Stanford University collaborators, have been able to sequence and analyze patient genomes in a little over seven hours to inform clinical decisions. Given the 12 patients in the study, published earlier this year, were in critical care for life-threatening cardiac or neurological symptoms, the company said, the research highlighted nanopore sequencing’s “potential for same-day diagnosis to inform rapid treatment.”

Nanopore sequencing has also illustrated its clinical utility in the pandemic response. In October 2020, Oxford Nanopore obtained the CE mark for its LamPore SARS-CoV-2 sequencing test, which combines loop-mediated isothermal amplification (LAMP) with its GridIon or MinIon Mk1C platforms. However, the company said it terminated the test in 2021 “as a result of improvements in the availability of polymerase chain reaction (PCR) supplies" and does not anticipate any further sales of the test.

Despite the early promise of nanopore sequencing for clinical diagnostics, Sanghera acknowledged that disrupting existing diagnostic workflows “is not a trivial challenge.” He said “the company as a whole — from production through to regulatory — is geared” for this venture, adding that “the real challenge” is “to now push through these applications” for adoption.

While OND is currently seeking partners in diagnostics, the company is considering its relationship with Oracle, an Oxford Nanopore shareholder, “an important pillar” of its clinical strategy. In 2021, the two firms signed a memorandum of understanding to work together and explore “potential new solutions for applied clinical markets,” according to Oxford Nanopore.

“We envisage that our partnership will leverage Oracle's reach into the healthcare market, together with their best-in-class data infrastructure, coupled to our real-time sequencing platforms,” Sanghera said. “The development of end-to-end sample-to-answer workflows has the potential to provide clinical users an integrated solution, with the onward potential to couple directly into electronic health records.”

To that end, Sanghera said, the company has identified critical care as an area where the technology might gain traction quickly. "That's where we're going with this, and I wouldn't say that that's a fully formed strategy,” he said, noting that it will be OND’s job “to explore, to understand, and then maybe to turn that into a product development pipeline.”

Regardless, Sanghera said the road forward will have “significant challenges,” including verification, winning “the hearts and minds of the [pathology] lab people,” and conducting clinical trials. “It is a journey, it's expensive, and it takes time,” he added.