Cancer is a leading cause of death globally. So, a personalised genomics test for this complex disease has been on the medical wish list for a while. With funding from MTPConnect’s BioMedTech Horizons (BMTH) program, the Garvan Institute of Medical Research has developed a comprehensive cancer genomics platform for the Australian Healthcare sector with a single cost-effective test. The test is now available for use in routine clinical care through SydPath at St Vincent's Hospital in Sydney.
Cancer has a significant social and economic impact on individuals, families and the community. In 2019, nearly 50,000 deaths in Australia were attributed to the disease.
Cancer is a complex disease, with multiple factors contributing to its onset, including environmental and genetic factors, often a combination of both. Cancer results from changed cell function in the body, driven by proteins or ribonucleic acid (RNA), with sequences that are determined by genes. Irrespective of the causes of cancer, all forms of the disease can be traced to changes in a gene, or a combination of gene changes in a cell.
Finding a way through the complex cancer puzzle
The complexity of cancer makes early detection, diagnosis and selection of the best therapy for treatment a significant challenge for oncologists. Various genetic screening technologies available today offer a way through the puzzle.
Personalised and precision medicine is a move away from the one-size-fits-all approach. It was born from the understanding that emerged following sequencing of the human genome and development of Next-Generation Sequencing (NGS) technologies: that the genetic signature of any disease or disease variant is diverse and therefore the appropriate treatment may be different depending upon the underlying genetics. To be most effective, the right treatment for a disease should be chosen according to an individual’s genetic signature.
The emergence of personalised medicine has resulted in an ability to develop drugs tailored to very specific diseases (or the genetic variants); it enables oncologists to identify the correct patients for use in clinical studies and to select a patient’s ideal therapy based upon the genetic signature of the tumour. Selecting the right patient for inclusion in a clinical trial based on genetic profiling of the tumour is a transformative shift that has the potential to result in more targeted, personalised treatments becoming available to patients. Internationally, such trials are attracting heavy investment, with researchers seeking to develop tests that will enable fast, comprehensive and cost-effective genomic profiling of patient tumours.
Heightened demand for personalised medicine
Cancer gene panels and genomic profiling are quickly changing the diagnosis and treatment of cancers. The US Food and Drug Administration (FDA) recently approved two US cancer genomic tests; however, their cost (A$5,500) is prohibitive for routine use in Australia and their matching to US-approved drugs and trials are of limited utility to Australian patients. Offshore testing also fails to develop the necessary domestic infrastructure for precision cancer clinical trials.
Using BMTH funding, the Garvan Institute of Medical Research developed a comprehensive cancer genomics platform capable of supporting clinical trials in Australia, while also providing a service to oncologists for individual patient management. The overarching goal was to tailor a solution for the Australian healthcare system – making comprehensive tumour sequencing accessible to all oncologists at a pricepoint that would encourage the use of this technology at diagnosis.
Developing an Australian healthcare solution
The Garvan team established the entire workflow, beginning from when an oncologist first sees a patient, developing a cancer genomics sequencing platform for efficient analysis and interpretation of genomic data, as well as identifying relevant therapeutics and Australian clinical trials for each patient. These solutions ensured that, in the face of increasing global capabilities and investment in precision cancer clinical trials, Australia remains an attractive trial site and leader in precision medicine.
The main challenges of the project initially related to scalability, cost and turnaround time; acquiring sufficient reference material to be able to validate the test; and having the required pathology expertise to assess tumour tissue prior to sequencing. The latter two were essential to achieving regulation of the test through the National Association of Testing Authorities (NATA) ISO 15189 accreditation – a key target in the overall project.
Leveraging research, clinical and commercial networks
Through a rigorous technology screening process and by leveraging its various research, clinical and commercial networks, the Garvan team were able to overcome each of these challenges. Test development required over 1,000 patient tumour samples to be analysed to develop and validate procedures supporting the test. Continuous clinician feedback and the Garvan team’s own experience analysing large volumes of samples helped shape a service that now delivers an informative report with clinical utility in an expedient, efficient manner and at a relatively low cost.
As the tests were validated by the Garvan team and NATA accreditation was achieved, a technology transfer opportunity was explored, with a deal finalised in early 2021 for the transfer of materials to SydPath – a commercial pathology provider involved in the project from the earliest stages. SydPath established the required facilities, received training from the Garvan team, undertook test validation in their won laboratories and achieved NATA accreditation prior to launch.
Comprehensive cancer test applicable to all major adult cancers
SydPath is now maximising the commercial success of the test – using it to advance its existing oncology screening services and maximise its clinical impact by leveraging the organisation’s existing expertise and clinician networks.
This test is one of the most comprehensive cancer tests available within Australia. The test has a large diagnostic range applicable to all major adult cancer types, with genes relevant to 43 FDA-approved therapies and 23 National Comprehensive Cancer Network (NCCN) guidelines. This is important for identifying sensitivity or resistance to potential therapies, but also informative for clinical trials options for which molecular biomarkers constitute part of the eligibility criteria.
Through BMTH funding and support, the Garvan team has created an attractive cancer genomics service unlike any other in Australia. It is the first NATA-accredited platform to offer DNA sequencing, gene fusion detection and therapy/clinical trials matching in a single comprehensive assay and at a cost-effective price.
MTPConnect delivers the BioMedTech Horizons program (BMTH) - a Medical Research Future Fund (MRFF) initiative to support innovative collaborative health technologies, drive discoveries towards proof-of-concept and commercialisation that address key health challenges as well as maximise entrepreneurship and idea potential.
The Garvan's project also received funding from MTPConnect's Growth Centre Project Fund Program from 2018 to 2020, made possible by the Department of Industry, Science and Resources (DISR).