Public Funding for Genome Diagnostics Ltd

Ovarian Cancer is notoriously difficult to diagnose, with the majority of diagnoses achieved only in the later stages of the disease. The current blood marker, CA125, is not fit for purpose as it cannot detect up to 50% of early stage Ovarian Cancers, and its levels are not elevated in up to 20% of confirmed late stage Ovarian Cancers. Whilst CA125 is considered to have limited use as a monitoring tool to assess treatment responses, or to detect recurrence following treatment, its low level of accuracy means that it cannot be considered useful as a diagnostic test. We have identified a number of promising biomarkers based on the DNA methylation (DNAme) events which occur in ovarian cancer. In tissues we observed that these DNAme events happen at very early stages, and are maintained, or often elevated further, as ovarian cancer progresses. DNAme markers can be detected with high accuracy, from very low levels of tissue DNA (lower than 1ng), using a Droplet Digital PCR (ddPCR) approach. However, we have shown that these markers are often not conserved in a blood sample, owing to the nature by which circulating tumour DNA (ctDNA) is degraded in blood, and becoming impossible to detect by ddPCR. This leads us to conclude that more detailed knowledge about how ctDNA behaves in the blood would provide a significant technical advance in enabling the optimal detection of DNAme markers, and drastically improving Ovarian Cancer diagnosis. GenoME will utilise the latest DNAme profiling technology, coupled with high resolution 'fragmentomic' sequencing of ctDNA fragments, to reveal which regions of cfDNA are protected from degradation in the bloodstream of Ovarian Cancer patients. Fine mapping of these protected regions will allow us to identify highly conserved DNAme biomarker sequences across cfDNA representative of a broad patient population. Furthermore this will allow us to combine several DNAme markers together, significantly improving the rate of clinical accuracy and diagnosis, and providing greater coverage across Ovarian Cancer. This approach has potential to offer a game changing shift in patient outcomes via the early diagnosis and treatment intervention of Ovarian Cancer.

Almost 460,000 people a year are diagnosed with pancreatic cancer across the world, with the number of cases predicted to rise by 6% over the coming decades due to a plateau in research developments and therapeutic advancements. Unfortunately, due to non-specific symptoms which often present late, and the current sub-optimal diagnostic tests for pancreatic cancer, it is often only diagnosed in the later stages of the disease, and usually when it has already spread to secondary locations. The survival statistics are alarming, with less than 30% of patients suitable candidates for receiving any surgery or treatment after diagnosis and over 75% of patients do not survive for more than a year. The current blood test for diagnosis of pancreatic cancer is wholly inadequate, being only raised in ~50% of cases, also raised in a plethora of other benign unrelated conditions, or does not detect the cancer until late in the disease progression. Furthermore, there is currently no screening tool for people who are at high risk of developing pancreatic cancer. GenoME builds on its success with OvaME, a blood test for early detection of ovarian cancer. We are now aiming to develop a simple blood test which detects specific modifications of DNA (DNA methylation) which are present in the early stages of pancreatic cancer. Our candidate DNAme markers display potential superior accuracy and reliability over the current pancreatic cancer blood test, potentially improving the survival and quality of life of those affected. Whilst this test, PanME, will initially be launched as a diagnostic tool for symptomatic individuals, the long-term ambition for GenoME is to market the test as the world's first screening tool for pancreatic cancer. Post launch, this would require a larger long-term clinical validation in order to define a pancreatic screening programme. The PanME pancreatic cancer test is the second product for the company. Successful demonstration of applying our platform technology to a new disease area will enable us to raise the further critical funds required to expand our biomarker development for not just other cancer types but also a multitude of various other diseases which have classically lacked in research and diagnostic improvements or knowledge, such as endometriosis.

Almost 300,000 women a year are diagnosed with ovarian cancer across the world. The number of cases is predicted to rise by 15% in the coming years. Unfortunately, due to non-specific symptoms and the current sub-optimal diagnostic testing for ovarian cancer, it is often only diagnosed in the later stages of disease when it has already spread. In the UK more than 60% of the women with ovarian cancer are faced with the fact that their disease has spread at diagnosis, with it often being dubbed 'The Silent Killer'. Furthermore, there is currently no ovarian cancer screening tool. The current blood test for ovarian cancer diagnosis is unreliable, often not detecting women despite an ovarian cancer diagnosis by other means, or only elevated in those with an advanced state of the disease. Additionally, it is often raised in benign unrelated conditions leading to needless distress to patients, and unnecessary utilisation of NHS resources. GenoME Diagnostics is developing a simple blood test which detects specific modifications of DNA present in the early stages of the most common and aggressive form of ovarian cancer (High-Grade Serous Carcinoma). This test exhibits superior sensitivity and reliability over the current ovarian cancer test. Our aim for this Women in Innovation project is to meet a dire unmet need in women's health, to expand validation of our groundbreaking test to the early detection of all ovarian cancer subtypes. Thus enabling all women with ovarian cancer to be treated earlier, potentially improving survival outcomes from 20% to 90 %, and quality of life for all those affected. Having completed my PhD in Breast Cancer Research in 2019, I successfully lead our ovarian cancer diagnostic project through the ICURe programme 2019, which facilitates the early-stage commercialisation and market validation of University Research. This led to subsequent InnovateUK funding, incorporation of the company and private equity funding. We were also crowned the All-Ireland Best New Start company in 2020 by IntertradeIreland. As Chief Operating Officer of GenoME Diagnostics, I lead the day-to-day management and operations of the company and the execution of our technical and commercial milestones. I am still early in my career in business, and I am excited to hone my leadership, commercial, and management skills through this programme. I am passionate in inspiring other women to take the steps needed to realise their full potential and capabilities, at the time that is right for them.

Almost 300,000 women a year are diagnosed with Ovarian cancer across the world, with the number of cases are predicted to rise by 15% over the coming decades due to a plateau in research developments and therapeutic advancements. Unfortunately, due to non-specific symptoms of this disease and the sub-optimal diagnostic test for Ovarian cancer, it is often only diagnosed in the later stages of the disease when it has already spread. More than 60% of the women with Ovarian cancer in the UK are faced with the fact that their disease is incurable at diagnosis. The current blood test for diagnosis of Ovarian cancer is unreliable, often not raised at all in women with Ovarian cancer, raised in benign unrelated conditions, or does not detect the cancer until late in the disease progression. Furthermore, there is currently no screening tool for women who are at high risk of developing Ovarian cancer. GenoME has developed a simple blood test which detects specific modifications of DNA (DNA methylation) which are present in the early stages of Ovarian cancer. This test exhibits far superior statistical power and reliability than the current Ovarian cancer test and can detect the cancer in its earliest stages, enabling women to be treated faster, improving the survival and quality of life of those affected. GenoME also aims for this test to be trialled as the world's first screening tool for women at risk of developing Ovarian cancer. This OvaME Ovarian cancer test is the first product for the company, and GenoME will not stop at just this test. We are able to apply this same technology to develop tests for not just other cancer types but also a multitude of various other diseases which have classically lacked in research and diagnostic improvements or knowledge.