Chapter 2Diagnosis and screening
…[It is] well established that early diagnosis and screening programs very directly impact the outcomes of the cancer trajectory and people's survival. In the absence of those two mechanisms in rare cancers, people are typically diagnosed late, and the disease is often not well understood.
2.1This chapter discusses the evidence received by the committee in relation to:
the challenges and issues in diagnosing rare and less common cancers accurately and swiftly;
the implications of mis- and late diagnoses and the vast benefits of early diagnosis in terms of patient outcomes, treatment options and the impact on the Australian healthcare system; and
options to address diagnostic challenges.
2.2It also considers screening options and issues regarding rare and less common cancers, particularly in relation to genomic testing.
2.3It concludes with the committee’s views and recommendations on these matters.
Challenges in diagnosing rare and less common cancers
2.4Considerable evidence to the committee highlighted the difficulties in accurately and swiftly diagnosing rare and less common cancers.
2.5For example, the committee heard that rare and less common cancers and neuroendocrine tumours are often diagnosed following ‘a lengthy process of exclusion’ and that eventual diagnosis can require complex and less-used investigations and technology. In a joint submission, Cancer Council Australia, the Cancer Nurses Society of Australia, the Clinical Oncology Society of Australia, Private Cancer Physicians of Australia, the Medical Oncology Group of Australia and the Lung Foundation Australia (Cancer Council Australia) noted that these diagnostic challenges are more pronounced than the difficulties in identifying more common cancers.
2.6The Royal Australian College of General Practitioners (RACGP) explained the diagnostic challenge of patients initially presenting with ambiguous symptoms:
Patients who present to general practice early in their illness usually have ambiguous symptoms that will typically have more common benign explanations, with the connections between the symptoms not yet clear. Rare and less common cancers do not have clear symptom signatures...
2.7Cancer Australia also explained that clinicians may see very few patients with rare and less common cancers and may therefore be less familiar with signs and symptoms, which can be vague and non-specific. Cancer Australia stated that these factors can lead to misdiagnosis or delays in diagnosis and referral, and consequently a delay in treatment.
2.8AstraZeneca similarly summarised some of the factors that contribute to delayed and/or misdiagnoses of rare and less common cancers:
Symptoms of rare and less common cancers can be unusual or unremarkable and as a result are less well known to doctors than symptoms of more common cancers. Doctors often investigate other causes for the symptoms first, leading to delayed diagnosis and/or misdiagnosis. A patient may need several tests and to see more than one specialist to confirm a diagnosis. For patients with cancer, the right test and the right treatment at the right time are critical to optimal patient outcomes.
2.9Ms Meredith Cummins, Chief Executive Officer of NeuroEndocrine Cancer Australia, highlighted how these issues can have serious health and financial implications for neuroendocrine cancer patients in particular:
The symptoms are so vague: diarrhoea, bloating, flushing, wheezing—it could be anything. Because the diagnosis is delayed by an average of five to seven years, symptoms are often protracted. Sixty per cent of these patients have stage 4 disease, which means it's spread to other organs, like the liver, and the chance of cure is often lost. The cost of unnecessary tests impacts patients and the public healthcare system, predominantly because of this misdiagnosis and prolonged time, and it costs patients about $1,700 over three months for out-of-pocket expenses.
2.10The committee also heard several accounts from individuals with lived experience of rare and less common cancers, and the difficulties they experienced in receiving an accurate and timely diagnosis, either for themselves or their loved ones.
2.11For example, David, who outlined his experience living with neuroendocrine cancer, told the committee he was misdiagnosed for ‘three frustrating years’.
2.12MrsHannah Pringle, mother of Ruby, Kate, aunty of Emily, and Jelena, mother of Marko, also detailed the difficulties in getting a timely and accurate diagnosis for their loved ones who were each diagnosed with childhood cancer.
2.13Sarah, who lives with rare blood cancers Erdheim Chester Disease and Chronic Myelomonocytic Leukemia, also explained the difficult and stressful diagnostic process she encountered:
It took almost eight months of testing, including four bone marrow biopsies, numerous types of medical imaging, blood and genetic testing before I was diagnosed. The challenge I faced was the rarity of these diseases produce symptoms that can be like a lot of other diseases. The tests were done more as a process of elimination for other diseases. I required time off work and people to accompany me which was at times a logistical nightmare. The stress involved with having the test done and then waiting for the results was immense.
Importance of early diagnosis
2.14Several inquiry participants outlined the implications of delayed and/or misdiagnoses, including delayed treatment, poorer patient outcomes and increased costs to the health system. The Royal College of Pathologists of Australasia summarised these issues:
Rare cancers often present diagnostic dilemmas for the clinician, necessitating a long and complex journey for the patient. Delays in diagnosis subsequently lead to delays in treatment, where patients with rare and less common cancers frequently have limited therapeutic options to begin with.
2.15Many also emphasised the importance of early diagnosis. For example, Head and Neck Cancer Australia explained that head and neck cancers are largely curable if detected early, but are often highly aggressive and a delay in diagnosis can have an ‘enormous impact on what treatment a patient is offered and their subsequent quality of life’.
2.16Yvonne, who highlighted her child’s experience of being diagnosed with the aggressive paediatric bone cancer Ewing Sarcoma at the age of 17, similarly outlined that the difficulty in getting an early diagnosis of a rare disease is ‘a barrier to optimal care and may preclude curative cancer treatment’.
2.17Associate Professor Anna Boltong, Chief Executive Officer of Ovarian Cancer Australia made a similar point, and explained the serious implications of delayed diagnosis for women diagnosed with this rare form of cancer:
Too many women are diagnosed with advanced disease by the time symptoms present, reducing the five-year survival rate to just 29 per cent. They face an uphill battle even prior to diagnosis, with no effective screening test; no routine way of assessing elevated risk; vague symptoms, leading to delayed diagnosis, advanced disease and poor prognosis; plus difficulties sourcing specialist care. What follows is a series of treatment options that fast lead to the development of resistance.
2.18In the childhood cancer context, Associate Professor Antoinette Anazodo, Paediatric and Adolescent Oncologist representing the Sydney Children’s Hospitals Network, explained that the time from first symptoms, to the time of diagnosis (known as the ‘symptom interval’) is ‘often longer than we want it to be’. She emphasised the benefits of early and accurate diagnosis in terms of both cost and treatment effectiveness:
For many rare cancers, while we're talking about all the costs, what we're not also talking about are the benefits. An early and accurate diagnosis when you've got a rare cancer—to be able to accurately say not only what the cancer is but how aggressive the cancer is, what the targets are and how likely those targets are to work—makes a significant difference.
2.19More broadly, Rare Cancers Australia submitted that early diagnosis is critical for improving survival outcomes for cancer patients, as well as reducing the burden on the Australian healthcare system and associated expenditure. Roche, a pharmaceutical and biotechnology company, similarly observed that it is widely accepted that ‘early diagnosis results in better health outcomes at lower costs, as less intensive interventions are required’.
2.20Further, Professor Rodney Hicks, former Director of the Neuroendocrine Service at Peter MacCallum Cancer Centre and Honorary Board Member of NeuroEndocrine Cancer Australia, reported that 96 cents in every dollar spent in health care is spent on therapies such as surgery, radiotherapy and drugs – whereas just 4 cents in that dollar is spent on diagnosis. He highlighted that this is despite the fact that ‘every one of those 96 cents is determined by the accuracy of the diagnosis that we do’.
2.21Professor Hicks continued to emphasise the vast benefits of investing in early diagnosis in terms of both cost savings and patient outcomes:
That's the payback for looking after patients. If you keep them well, you keep them productive, you keep them out of hospital and you diagnose them earlier, it actually saves you money. The money you spend for better diagnosis, earlier detection and better care of patients to improve their quality and duration of life can pay back massively. That has to be part of the discussion we have. It's not just about healthcare delivery. It's about economics.
Role of general practitioners in diagnosis
2.22The committee heard that general practitioners (GPs) are the first point-of-contact for initial investigations and referrals for most people with rare and less common cancers, and the important role that GPs play in the diagnosis of these cancers.
2.23Cancer Australia recognised that GPs have a vital role in recognising symptoms and signs in patients with possible rare or less common cancer, as well as in initiating referral to specialists for early diagnosis and care. The Royal Australian College of General Practitioners (RACGP) similarly outlined that GPs are critical in the diagnosis, holistic management and care coordination of patients diagnosed with a rare cancer.
2.24Noting this, many inquiry participants reported issues regarding GPs throughout their, or their loved ones, diagnostic journey, with several witnesses calling for greater awareness about rare and less common cancers amongst GPs.
2.25In its submission to the inquiry, the RACGP noted that the process to diagnose a rare and less common cancer can be time-consuming and complex. TrialHub, Mr David Menzies, Head of PanSupport at the Pancare Foundation, and Ms Christine Cockburn, Chief Executive Officer of Rare Cancers Australia, also recognised the difficult job that GPs have in diagnosing rare cancers.
The need for point-of-care clinical information for GPs
2.26The RACGP reported that currently, there is a lack of supportive and easily accessible clinical information and local pathways for rare and less common cancers available for GPs, at the point-of-care. It added that enabling GPs to have access to such accurate information would assist them in making an early diagnosis and providing optimal management and support, for patients and their families living with a rare and less common cancer.
2.27RACGP noted that it would be impractical to provide comprehensive education on the ever-changing guidance for all rare and less common cancers, but suggested that a cost-effective option would be to expand the existing ‘HealthPathways’ system, to ‘include guidance on rare and less common cancers, with point-of-care information on assessment, diagnosis and local referral pathways’.
2.28Other inquiry participants also advocated for similar tools to support GPs to make prompt diagnoses and referrals. For example, the Leukaemia Foundation made the following recommendations:
Develop symptom support tools for GPs aimed at improving prompt and accurate diagnosis and appropriate referral to specialists of low survival, non-screenable cancers, including blood cancers.
… review existing international diagnostics guidelines in blood cancer and develop Australian-specific guidelines for minimum and recommended testing requirements for different types of blood cancer in Australian healthcare settings. These guidelines should be integrated with clinical guidelines.
2.29Cancer Council Australia explained that Optimal Care Pathways, guidelines which ‘outline consistent, safe, high-quality and evidence-based care for people with cancer’, covering every step from prevention, early detection and recovery, should receive further investment.
2.30It noted that that Optimal Care Pathways for rare or less common cancers only exist for neuroendocrine tumours, some blood cancers, and soft tissue sarcoma. Cancer Council Australia urged for increased investment and support from all Australian governments ‘to establish develop, implement and embed the Optimal Care Pathways for all rare and less common cancers’.
2.31The Daffodil Centre and the University of Sydney Cancer Research Network similarly recommended the development of Optimal Care Pathways for rare cancers, as well as ‘robust mechanisms for their dissemination, implementation and reporting as best practice within all health systems’.
2.32Kate, who shared the story of her niece, Emily, who was diagnosed with neuroblastoma, advocated for further government investment in ‘more effective symptom support tools for GPs, and clinical education’.
2.33At a public hearing of the inquiry in Melbourne, Professor Mark Morgan, Chair of the Expert Committee for Quality Care at the RACGP, reiterated the RACGP’s calls to expand the point-of-care information that is available to GPs regarding rare cancers:
We … recommend increasing the support for point-of-care information available to GPs. That would be products such as HealthPathways, which are currently places where GPs can get information they need to help with referral pathways and clinical information and guidance. If that could be expanded for rare cancers, it would be very helpful.
Improving referral pathways
2.34Some inquiry participants including the Daffodil Centre and the University of Sydney Cancer Research Network, Cancer Australia and Ms Nadia Rosin, Chief Executive Officer of Head and Neck Cancer Australia, noted the importance of clear and prompt referrals for patients with rare and less common cancers.
2.35The Pancare Foundation, which represents and advocates for Australians impacted by upper gastrointestinal cancers, specifically recommended that systems be established for ‘rapid and informed’ specialist referral to improve diagnoses.
2.36The RACGP informed the committee that the United Kingdom has a two‑week urgent referral system for suspected cancer, ‘along with overall diagnostics, management plan and treatment (if required) within 16 weeks’.
2.37The RACGP recommended that further scoping and research should be undertaken to determine whether this model would be successful in an Australian context, and if so, that adequate resourcing and investment be provided. It made the following recommendation:
Provide funding to scope and research into the feasibility of an urgent cancer referral system in Australia that includes people with suspected rare and less common cancers.
Issues around funding and availability of diagnostic tests
2.38The committee heard that there are issues around the availability and funding of diagnostic tests and equipment.
2.39The Royal College of Pathologists of Australasia explained that there is ‘variable access nationwide’ to advanced technologies for diagnostic testing and treating specialists, both geographically and financially.
2.40Inquiry participants also raised concern about the out-of-pocket costs for diagnostic tests and the various implications of this, for example, ProfessorHicks raised concern about the lack of Medicare funding for scans:
There's an incredible financial disincentive to using scans that aren't funded by Medicare. It's both the beauty and the tragedy of the Medicare system that it has created a mindset amongst the community that our health care should be entirely free and 'If the government isn't prepared to pay for a test, then why should I?' That also feeds back to doctors being reluctant to refer patients for scans that aren't reimbursed by Medicare, and so sometimes they'll work around the edges and come up with an indication that might be almost fit for funding.
2.41Professor Hicks considered that the system is broken, and that a ‘rethink’ of the Medical Services Advisory Committee (MSAC) process as it applies to the reimbursement of scans is warranted, to achieve a more ‘patient centred’ approach to evaluating imaging and diagnostic technologies.
2.42The Peter MacCallum Cancer Centre also noted the implications of inadequate funding for diagnostics. It submitted that current state-funded subsidies are ‘vastly insufficient’ to cover the full costs of diagnostic assessments, ‘which may delay diagnosis and impact on subsequent disease treatment and management’.
2.43Ms Delaine Smith, Chief Executive Officer of the Australasian Leukaemia and Lymphoma Group noted similar concerns:
Some diagnostics are not covered by private health insurance, are not covered through out-of-hospital costs and can lead to inconsistent use and variation in the minimum standards of the use of these diagnostic tests. It's important that we are providing the facilities, the technology, the education and the workforce in healthcare professionals to deliver timely and accurate diagnosis.
2.44Angie, whose daughter Eve has been diagnosed by the aggressive childhood cancer Diffuse Intrinsic Pontine Glioma (DIPG), told the committee that the cost associated with diagnostic procedures and imaging tests can pose a substantial burden for families, and hinder timely detection.
2.45Yvonne, whose child has been diagnosed with a rare paediatric bone cancer, also noted the significant out-of-pocket costs for diagnostic and monitoring scans, and advocated for a ‘scheme to fund scan costs’, including gap fees for paediatric cancers and other cancers with high risk of relapse.
2.46Another issue regarding access to diagnostic services was outlined by DrIanKamerman, Secretary of the Rural Doctors Association NSW, and rural GP based in Tamworth, New South Wales. He reported that a ‘major problem’ he faces when dealing with patients with suspected cancer, is that as a GP, there are very few imaging tests he can order in his own right.
2.47Dr Kamerman argued that addressing this issue, and related Medicare limitations, would help fast‑track patients to treatment:
I can't order an MRI on someone I suspect has cancer for the patient to get a Medicare rebate unless they happen to have brain cancer and that's what I'm suspecting. The Medicare limitations are such that psychiatrists can order it or a rehabilitation specialist can order it, but a specialist GP can't order those sorts of tests. Similarly I'm totally prevented from getting a PET scan on a patient. The Medicare requirements for PET scans are essentially a patient with a known cancer where you suspect there is a spread going on. I don't understand why a rural GP—even specialist GPs from anywhere—can't order those sorts of tests. It would just cut weeks or a month or two off the patient getting definitive treatment.
2.48More specific barriers regarding access to particular diagnostic imaging services are discussed below, and Chapter 5 of this report discusses broader barriers to accurate and prompt diagnoses including high out of pocket costs, geographical factors and workforce shortages.
Magnetic Resonance Imaging (MRI) services
2.49Evidence to the committee highlighted that funding and regulatory issues are impacting the accessibility of magnetic resonance imaging (MRI) services.
2.50Professor John R Zalcberg AO, a practicing medical oncologist who has worked in the field for almost 40 years, flagged that whilst Australia has a high number of MRI machines, the technology is disproportionately utilised, likely due to restricted funding and high out of pocket costs:
According to data reported in 2018 … Australia has the highest number of magnetic resonance imaging (MRI) machines in the OECD (13.4/million people) but has the lowest number of MRI examinations per 1000 people (27.6 in Australia versus 51.7 examinations/1000 people in the OECD). Whilst these numbers are not confined to cancer, they are likely to be representative and reflect the restricted funding and substantive out of pocket costs required to have an MRI scan when clinically indicated.
2.51Bayer Australia also noted that the availability and access to cancer-detecting diagnostic technology such as MRI can be more restrictive for Australian patients than other OECD countries.
2.52The Australian Diagnostic Imaging Association noted the essential role that radiology plays in the diagnosis of rare cancers, and argued that changes must be made to the ‘inflexibility’ and ‘unavailability’ of Medicare items, and the MRI licensing system, as it would enable ‘all Australian rare cancer patients to receive the best possible diagnosis and treatment’.
2.53Professor John Zalcberg explained he has ‘regularly observed how much restricted access to MRI scans interferes with optimal cancer care’, and the Australian Diagnostic Imaging Association explained that Australia’s current MRI licensing system hinders equitable access to appropriate radiology services for rare cancer and other patients in several ways, including:
licences are skewed towards high socio-economic areas;
patients are referred for less appropriate examinations; and
the system of full and partial licences is confusing for patients and referrers.
2.54The Australian Diagnostic Imaging Association made the following recommendations to address these issues:
Create Medicare items for MRI for diagnosis, surveillance and restaging of rare cancers.
Remove the licencing requirement for specific paediatric and cancer MRI services. This initial increment could be conducted as a pilot, with evaluation to include the actual cost to the Budget of the measure; the impact on patient access to MRI; and a timetable for ultimately removing licence restrictions on all MRI items.
PET/CT imaging services
2.55Some submitters also outlined issues regarding the accessibility of Positron Emission Tomography (PET) and Computed Tomography (CT) imaging.
2.56Associate Professor Gabrielle Cehic AM, a medical oncologist and nuclear medicine physician noted the ‘pressing issue’ of restricted access to, and the inequitable funding model for PET investigations. She contended that these factors are continuing ‘to hinder ongoing clinical improvements that we all know are possible but continues to be denied or deferred’.
2.57The Australian Diagnostic Imaging Association outlined that for most rare cancers, PET scans are not currently funded other than for initial staging of rare cancers. It recommended that MSAC consideration of Medicare items for PET diagnosis and restaging of rare cancers be expedited, and that access to these items should not be subject to a lifetime cap.
2.58Michael, a submitter who outlined his experience living with pancreatic cancer, informed the committee that Medicare does not cover the PET scans he needs, and the high out-of-pocket costs he incurs as a result:
PET scans for pancreatic cancer are not covered by Medicare and cost me $450.00 each time. I have now spent many thousands of dollars on PET scans, but I have no other choice if my doctors are to have the best information to continue my treatment. Many cancers do qualify for a Medicare rebate for PET scans, but pancreatic cancer does not.
2.59Similarly, Christopher, who was diagnosed with Merkyl Cell Carcinoma, a rare and aggressive neuroendocrine skin cancer in 2023, noted the significant costs he has incurred due to PET scans, and called for for additional Medicare rebates to subsidise PET and other scans.
2.60Dr S. Cox, a nuclear medicine specialist in South Australia, raised concern about the inequitable access for PET/CT medical imaging in South Australia in particular, reporting that the state has markedly lower PET/CT services per capita (nearly 50 per cent lower than the national average). Dr Cox also reported that South Australia has the lowest number of PET/CT scanners per capita in Australia.
2.61Dr Cox reiterated these concerns at a public hearing that the committee held in Adelaide:
We've been advocating for PET/CT at Flinders Medical Centre for almost two decades at both local and government levels. We've failed to deliver equitable access of PET/CT over a 20-year period, and we're continuing to do so despite very clear evidence of the role that PET/CT has in management not only of the rare and less common cancers but actually of a large majority of cancers. Patients don't have equal access to standard of care in their cancer management if they live in South Australia, particularly if they live or are managed in the Southern Adelaide Local Health Network.
2.62Mrs Miriam Cocking, who has volunteered for over 20 years to advocate for, and assist community members navigating and accessing the health-and-ageing system in South Australia, echoed Dr Cox’s concerns about the lack of PET/CT machinery in South Australia:
When you look at our counterpart states per population, they have more PET/CT scan machinery than we do. We have approximately 2.5 million people in South Australia, but we currently have one PET/CT scan machinery in the Royal Adelaide Hospital, which is the principal referral hospital. Our second principal referral hospital is Flinders, which is long overdue in having one of these machines because they're covering the southern Adelaide local health network, which has a massive population and is still increasing.
2.63Associate Professor Cehic expressed that PET should not be ‘something seen as special’, and also emphasised the to fund PET services in South Australia:
At the South Australian level it is no longer just embarrassing; it's distressing and incredibly frustrating. I have personally tabulated nine separate trials which we cannot take part in because we don't have PET. …We have to get funding, and not just for one but for all of us; that is the take-home message.
Box 2.1 Site visit – The Queen Elizabeth Hospital, Adelaide The committee conducted a site visit at the Queen Elizabeth Hospital in Adelaide. The site visit included a tour of the hospital’s Nuclear Medicine Department followed by several short presentations focused on the equity and access for South Australian patients with rare and uncommon cancers including progress to date, challenges, and future goals. Committee members heard that the Nuclear Medicine Department adopts a strong patient-centred approach throughout diagnostic and treatment services for patients across South Australia and the Northern Territory. Throughout the site visit, hospital staff further emphasised that one of their biggest challenges is the lack of PET/CT infrastructure to deliver quality diagnostic and treatment care to patients. Staff told committee members that they are seeking to ‘future-proof’ the department, but that the lack of PET/CT machines is undermining this goal and their ability to offer more advanced treatment to patients. |
Screening
2.64The committee understands that screening is different to diagnostic testing. Whilst diagnostic testing is used to confirm cancer when a person already has symptoms, screening aims to detect cancers early, at an asymptomatic stage.
2.65According to the Department of Health and Aged Care (the department), screening is ‘one of the most effective ways to detect the early signs of cancer’ and can enable earlier management and treatment of disease and result in better health outcomes.
2.66Queensland Health similarly emphasised the importance of screening, echoing that screening is one of the most effective ways to detect the early signs of cancer, at an early stage, when treatment is likely to be more effective.
2.67Issues regarding screening for rare and less common cancers, and options to address these matters, will be canvassed in the following sections.
No national screening programs for rare and less common cancers
2.68Amongst other submitters, Rare Cancer Australia, NACCHO and the department noted that currently, there are no national screening programs available for rare and less common cancers.
2.69Advocacy organisations including Ovarian Cancer Australia, Head and Neck Cancer Australia and the Pancare Foundation also noted that there are no screening tests for the respective cancer populations they represent.
2.70Inquiry participants noted Australia’s existing national cancer screening programs for bowel, cervical and breast cancers, however some explained that such population level screening programs would likely not be feasible for rare and less common cancers. Cancer Australia submitted that this is because many rare and less common cancers:
do not have an identifiable early stage at which a screening intervention is possible;
do not have an available, accurate and acceptable screening test; or
do not have an evidence-based, cost-effective assessment and management pathway for patients with a positive screening test.
2.71Ms Megan Varlow, Director of Cancer Control Policy at Cancer Council Australia similarly outlined:
The difficult thing with rare and less common cancers is the fact that they're rare and less common. Particularly in the Australian community, numbers in each of the different types of cancer are quite small. To be efficient and cost-effective and for them to be considered at a population level—they're never going to get to that level. We don't have the numbers of people in Australia with those cancers that would meet the criteria that, say, BreastScreen has had to meet to be able to get up and running.
2.72Ms Varlow noted that the challenge for rare and less common cancers is developing a screening test or regime that assists people to be diagnosed earlier, but that still ensures cost effectiveness, recognising the small patient populations.
Calls for greater screening efforts
2.73Several inquiry participants called for increased investment or efforts in terms of screening for rare and less common cancers. For example, AstraZeneca submitted:
Access to screening and cancer genomics will enable faster and more accurate diagnosis, early intervention and identification of patients who may benefit from targeted therapies. This will ensure more efficient use of medicines by preventing ineffective use of therapies on patients in whom they do not work and overall, will improve outcomes for cancer patients, including those with rare and less common cancers.
2.74The Daffodil Centre and the University of Sydney Cancer Research Network recommended increased Australian Government investment in research into risk-based and personalised (as distinct from population-based) cancer screening and systematic approaches to early detection across the cancer spectrum.
2.75Options for improving and widening screening options for rare and less common cancers are explored in the sections below.
Genomic testing and screening
2.76Roche, a pharmaceutical and biotechnology company, explained that in cancer, genomic technologies ‘are able to identify genetic or biological markers that are driving cancer growth by analysing a tumour or blood sample’.
2.77Ms Christine Cockburn, Chief Executive Officer of Rare Cancers Australia noted the various terms used to describe genomic testing and precision medicine, and further explained these concepts:
By undergoing genomic profiling, or precision medicine, or personalised medicine, or molecular screening—you would have read all of these phrases in the submissions—what we can understand is what the fingerprint of each of the cancers is, and we end up with a target, or a biomarker, that we can target to treat the cancer. So what we're looking at is each individual's fingerprint of their cancer and what really will effectively treat that cancer. That concept is precision, or personalised, medicine.
2.78Several inquiry participants outlined recent developments in relation to, as well as the potential benefits of genomics in cancer care.
2.79For example, a submission from Dr Jane Tiller and Associate Professor Paul Lacaze from the Public Health Genomics Program at Monash University outlined that ‘the field of genomics has great potential to improve medicine and public health, through enabling diagnosis, prevention and early treatment of cancer (and other genetic disease)’.
2.80Cancer Australia similarly noted that the ‘rapidly expanding’ use of genomics in cancer control may particularly benefit patients with rare and less common cancers. It continued:
There is an increasing knowledge base for genetic conditions potentially linked to rare and less common cancers including neuroendocrine cancer, and improvements in technology to allow for risk-stratified screening programs.
2.81The department explained that genomic medicine is already allowing clinicians to diagnose diseases more accurately, tailor treatments to an individual and better identify those at high genetic risk of inherited disease and a range of conditions. It also pointed out that patients affected by rare and less common cancers, as well as other complex conditions, are likely to be ‘the major beneficiaries of future developments’ in this space.
2.82Whilst the benefits of genomics in terms of the treatment of rare and less common cancers will be covered in Chapter 3 of this report, the following sections focus on addressing barriers in relation to genomic screening.
The case for greater access to genomic testing and screening
2.83The committee heard about the importance and potential of genomic screening and the benefits this could provide to rare and less common cancer patients.
2.84The department outlined that whilst there have been no advancements in identifying suitable screening tests for rare and less common cancers, in the future, ‘it is likely genomics offers the potential to better understand the risk of rare cancers without the need for understanding the natural history of the disease’.
2.85Relatedly, Cancer Australia reported that there is an increasing interest, and growing evidence for, more risk-based, personalised approaches to population screening. Cancer Australia explained that in the future, such approaches ‘may provide an opportunity to address delays in diagnosis for people with rare and less common cancers’. It outlined the benefits of genetic screening in the following example:
… a patient with known risk factors, such as a family history or a hereditary condition which predisposes a person to developing cancer (such as neuroendocrine cancer) could be identified by genetic screening, allowing for regular surveillance to enable early detection.
2.86Whilst several inquiry participants advocated for greater access to, and investment in genomic testing and screening, the committee heard that factors including a regulatory issue regarding genetic discrimination in life insurance, as well as out-of-pocket costs and strict testing criteria are limiting patients access and use of such screening tests.
Genetic discrimination in life insurance
2.87The committee was made aware that currently, the Disability Discrimination Act 1992 provides an exemption for life insurers to use genomic or genetic test results when underwriting life insurance contracts.
2.88Submitters explained that this can lead to discrimination in the offer of insurance policies against people with genetic results, including denials of cover, increases in premiums, and exclusions on cover.
2.89A joint submission from Dr Jane Tiller and Associate Professor Paul Lacaze, from the Public Health Genomics Program at Monash University outlined that this has been an issue for some time, with a 2017–18 Parliamentary Joint Committee on Corporations and Financial Services (PJCCFS) inquiry into the life insurance industry, considering these issues in detail and recommending various reforms.
2.90In 2019, the life insurance industry peak body, the Financial Services Council introduced a partial moratorium (Financial Services Council moratorium) requiring applicants to disclose genetic test results only for policies above certain financial limits. Dr Tiller and Associate Professor Lacaze outlined that this moratorium is industry self-regulated, with no government oversight, and still resulted in ‘an overwhelming lack of confidence by Australian consumers and health professionals’, particularly in regards to its self-regulated nature.
2.91Amongst other inquiry participants, Dr Tiller raised concern that this issue is deterring people and families from accessing such testing:
Oftentimes people decide that they would rather not have this information and not have the impact of that on their life insurance, so they choose not to have this testing. I don't need to tell you, in this committee and in this context, how important it is that people are able to access the genetic testing that's available to them. We've heard of a lot of challenges with people accessing clinical trials and treatments, but if people aren't accessing this kind of thing that is available to them, because they're worried about implications for their future life insurance or their children's life insurance, that is a significant tragedy.
2.92Professor Lacaze outlined that whilst the suite of applications for genomic testing is increasing, this issue with life insurance discrimination ‘looms like a black cloud’ over this progress and for the benefits of this technology to be felt by the population.
2.93Dr Tiller informed the committee that internationally, many countries have adopted bans and regulatory responses such as legislation to prohibit or restrict the use of genetic results by insurers and other industries. She outlined that jurisdictions including Canada, the UK and much of Europe have bans in place. Professor Lacaze said ‘it’s fair to say that Australia is behind the eight ball and a bit of an outlier’.
2.94Specifically, Dr Tiller and Professor Lacaze submitted that Australia must consider a ‘legislative prohibition’ on genetic discrimination, ‘to address this critical human rights issue, protect individuals, and remove barriers to screening and diagnosis of cancers’.
Australian Genetics and Life Insurance Moratorium: Monitoring the Effectiveness and Response (A-GLIMMER) Project
2.95The committee also heard that a comprehensive review to investigate the effectiveness of the Financial Services Council moratorium as a regulatory solution to genetic discrimination in Australian life insurance has been undertaken, with the Australian Government funding the Australian Genetics and Life Insurance Moratorium: Monitoring the Effectiveness and Response (A‑GLIMMER) Project from 2020 to 2023. The funding was awarded through the Genomics Mission of the Medical Research Future Fund and was led by Monash University.
2.96The project found that ‘a very high proportion’ of key stakeholders considered that legislation is required to regulate the use of genetic test results in life insurance underwriting. This included 93 per cent of health professionals, 88 per cent of patients with experience of genetic testing, 78 per cent of the general public, and 86 per cent of researchers involved with the project.
2.97The project concluded that its findings demonstrate that the Financial Services Council moratorium is inadequate to address and prevent genetic discrimination in life insurance, and that it should be replaced with a legislative model of prohibition. The specific recommendations of the project are outlined in the table below.
Box 2.2 A-GLIMMER Project Recommendations - The Australian Government amend the Disability Discrimination Act 1992 (Cth) ('the Act') to prohibit insurers from using genetic or genomic test results to discriminate between applicants for risk-rated insurance, and consider amendments to the regulation of financial services to ensure insurers are subject to a positive duty to not discriminate.
- Australian Government allocate responsibility and appropriate resources to the Australian Human Rights Commission ('AHRC') to enforce, promote, educate and support individuals and all relevant stakeholders to understand and meet the new legal obligations under the Act. The AHRC should consult with a range of genetics and genomics experts and stakeholders to achieve this goal.
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Source: Dr Jane Tiller and Associate Professor Paul Lacaze, Australian Genetics and Life Insurance Moratorium: Monitoring the Effectiveness and Response, Final Stakeholder Report, p. 4 (tabled 1 February 2024).
2.98Evidence to the committee outlined that the RACGP supports the A-GLIMMER recommendations, concurring that the Australian Government should pass legislation to amend the Disability Discrimination Act 1992 to prohibit insurers from using genetic or genomic test results to discriminate between applicants for risk-rated insurance.
2.99Several other inquiry participants also advocated for legislative change to address this issue.
2.100Australian Genomics agreed that legislation must change ‘since the industry self-regulated moratorium currently in place does not provide confidence in appropriate protection’ and therefore ‘serves as a strong deterrent from having screening or predictive testing’.
2.101The Children’s Cancer Institute further echoed these points:
There is a legislative opportunity for the Australian Government to legislate a moratorium instead of leaving it self-regulated by the FSC [Financial Services Council], alleviating the anxiety in the community around genetic testing and therefore ensuring patients access the right testing and support services at the right time for their disease.
2.102Mrs Tiffany Boughtwood, Managing Director of Australian Genomics considered that ‘anything less than a complete ban is just going to further stifle the outcome for patients with rare and less common cancers, as well as the broader Australian community’.
Cost and funding factors
2.103Some submitters outlined that out-of-pocket costs for genomic screening and profiling is limiting access for Australians. For example, the Leukaemia Foundation submitted that most genomic testing is not publicly subsidised. It considered that this not only limits uptake for Australians, but also creates inequitable access across the population.
2.104The Royal College of Pathologists of Australasia and Mrs Tiffany Boughtwood, of Australian Genomics, also confirmed there is no reimbursement for comprehensive cancer genomic profiling in Australia.
2.105Mrs Boughtwood highlighted that this is in contrast with people in England who are facing a cancer diagnosis, who are able to receive reimbursements for comprehensive cancer genomic profiling through the National Health Service. Mrs Boughtwood observed that the inequity of access experienced by Australians who cannot afford such tests ‘is a situation that should not exist in Australia’.
2.106Bayer Australia also drew international comparisons, outlining that individuals in countries such as the UK, United States, Belgium, Denmark, France, Germany and the Netherlands have advanced levels of access for patients to genomic testing. It also outlined that Korea encourages such testing as part of routine care and offers a ‘flexible funding model’ where co-payment contributions result in a ‘significantly larger uptake in testing’.
2.107To address these issues, submitters advocated for increased government funding to subsidise genomic testing for patients and improve access. The Royal College of Pathologists of Australasia considered that Commonwealth funding, for comprehensive tumour profiling via genetic testing, would best support equitable access to testing for individuals with rare and less common cancers.
2.108Omico, a national not-for-profit organisation focussed on delivering precision oncology to Australian cancer patients, proposed that development of a ‘sustainable funding model’ to ensure ongoing access to precision oncology, including free access to genomic profiling ‘is a critical consideration for improving patient outcomes in Australia in the future’. Roche similarly recommended that the Australian Government ‘commit to a national funding framework for genomic screening that is sustainable in the long term’.
2.109Bayer Australia, a pharmaceutical company, recommended that genomic testing be offered routinely to all Australian patients as standard of care, and that ‘universal access to genomic testing for all Australian patients’ be aspired to.
2.110Caitlin, who outlined her experience living with a rare form of ovarian cancer, also advocated for more equitable and affordable access to genomic screening:
As a rare-cancer patient, scientist and patient advocate I believe we need to do the following for all rare- and less-common-cancer patients. Firstly, we need to create equitable and affordable access to genetic screening of blood and tumour tissue, which should be a really standard of care and accessible to everyone.
2.111Cancer Australia outlined that it is developing a National Framework for Genomics in Cancer Control across the cancer continuum, and further explained the aims of this framework:
The Framework aims to promote a common understanding of this technology, drive its safe and effective application in practice, foster collaboration and provide future direction for its integration and use within the cancer care system, for personalised, equitable cancer care, experiences and outcomes for all Australians.
Genomic testing for preventive screening
2.112Associate Professor Paul Lacaze outlined that there is a ‘paradigm shift’ happening in genomics, with growing potential to use genomic testing for cancer prevention:
We want to live in a society where people can engage proactively in their health and in prevention to prevent cancer from happening in the first place. We've got a huge opportunity to be able to do that with genomics, and so we need to pave the way for the population to be able to engage in that kind of proactive health behaviour and realise the benefits of genomics.
2.113However, Professor Lacaze also flagged that strict testing criteria is preventing this from occurring. He told the committee that it is very difficult to get access to genetic testing ‘if you don't have a very strong family history or a prior cancer diagnosis or both’. He noted that many people are missing out on such testing or are not even aware it may be available to them in the first place.
2.114Australian Genomics also confirmed that predictive tests are only available to those who meet stringent inclusion criteria.
2.115Professor Lacaze outlined that a large pilot study, ‘DNA Screen’, is underway, which offers population-based testing to young people for cancer risk regardless of their family history, with most participants having never had cancer before. He explained that the study is:
identifying people who carry very high-risk genetic variants;
intervening to help them prevent cancer from happening; and
notifying participants’ family members who may also be at risk, if they want to know.
2.116Both Professor Lacaze and Australian Genomics noted the high level of interest and engagement with the study. Professor Lacaze explained that the study’s sample of 10 000 people between 18 and 40 across all Australian states and rural areas, has evidenced ‘huge public interest and appetite to engage in this kind of preventative genetic testing for cancer risk and for other types of risk’.
2.117He noted that many people want to get access to such testing but can't because of ‘the current system’ and due to ‘very strict criteria’ surrounding genetic testing.
2.118Genomics Australia further explained that the program is ‘determining feasibility, scalability, and public acceptance of the program to ultimately work towards a population screening program for Australia’.
2.119WA Health also outlined the DNA Screen program and suggested that widening population-based screening programs such as this, could help identify more at-risk individuals and improve outcomes from a public health genomics perspective.
Committee view
2.120The committee heard overwhelming evidence about the importance of early and accurate diagnosis when it comes to rare and less common cancers. The committee notes the difficult diagnostic journeys that too many patients with rare and less common cancers have, including multiple costly, invasive, and unnecessary investigations, and the added anxiety that mis- and delayed diagnoses can cause during an already stressful time for patients and their families.
2.121The committee understands that early detection is critical, not only to enable improved prognoses, survival rates, and quality of life for patients, but it also reemphasises evidence highlighted by multiple inquiry participants that earlier diagnoses can also deliver savings for patients, and reduce the burden on the Australian healthcare system, and taxpayer more broadly.
2.122It is for these reasons the committee considers it essential that the Australian Government prioritises investment and reforms that remove and reduce existing barriers to swift and accurate diagnoses of rare and less common cancers.
Point-of-care information and improved referral pathways
2.123GPs are often the first point-of-contact that rare and less common cancer patients have with the health system when symptoms arise. The committee recognises the key role that GPs play in initiating diagnostic investigations and referrals and acknowledges the extremely difficult job that GPs have at this point in a rare cancer patient’s journey.
2.124Noting this, and the existing, well-established challenges of the GP workforce, the committee accepts that it would be impractical to require extra training or education for GPs on all rare and less common cancers. Rather, the committee considers that ensuring GPs have access to accurate and up to date point-of-care information regarding rare cancers, is vital.
2.125The committee notes that existing clinical guidelines such as HealthPathways and Optimal Care Pathways are used across the country, which provide practitioners with point-of-care, best-practice guidance for the assessment, diagnosis and referral pathways for many conditions, including cancers. However, the committee was concerned to hear that such resources are not available for most rare and less common cancers.
2.126The committee is of the view that GPs should have access to easily accessible clinical information and local pathways for rare and less common cancers at the point-of-care. This will help enable more swift and accurate diagnoses, as well as improve patient experiences in the early stages of their cancer journey.
2.127The committee considers that the Government should engage with key non‑government stakeholders to ensure these resources are made available.
2.128The committee recommends that the Australian Government further develop clinical guidelines and local pathways for rare and less common cancers and ensure that they are accessible and available for general practitioners at the point-of-care.
2.129Inquiry participants also highlighted how important prompt referrals are during the diagnostic phase of a patient’s journey. The committee notes the success of the UK’s two-week urgent referral system for suspected cancer, which also aims for overall diagnostics, a management plan and treatment (when required) to occur within 16 weeks.
2.130The committee sees merit in further scoping and research to determine the feasibility of this model in the Australian context, to further enable earlier diagnoses for all cancers, including rare and less common cancers.
2.131The committee recommends that the Department of Health and Aged Care investigate the feasibility of a two-week urgent referral system for suspected cancer, such as the model offered in the United Kingdom.
Diagnostic services
2.132The committee was concerned to hear that cost is presenting a barrier to certain diagnostic tests and services for patients and their families. Further, it was particularly concerned that this can result in practitioners being reluctant to refer patients for scans that aren’t reimbursed under Medicare, which can delay diagnoses and interfere with optimal cancer care.
2.133The committee believes that the Australian Government should review these settings, to ensure that all patients with suspected cancer can receive prompt, appropriate and affordable diagnostic testing.
2.134The committee recommends that the Australian Government undertake a review of Medicare reimbursement settings for diagnostic tests and services, with a view of ensuring patients with, or with suspected rare or less common cancer, receive prompt, appropriate and affordable diagnostic testing.
2.135The committee also heard more specific evidence around issues regarding the accessibility of both MRI and PET/CT services. Regarding MRI services, the committee was concerned to hear that the availability and access to cancer detecting technology such as MRI can be more restrictive in Australia, than in our OECD counterparts. The committee also notes that that despite Australia having the highest number of MRI machines in the OECD, it has the lowest number of MRI examinations per 1000 people.
2.136The committee understands that limited and inflexible Medicare items for MRI, as well as the maldistribution of MRI machines and services across the country, continues to hinder equitable access to appropriate radiology in several ways, including variable access for patients based on socioeconomic area and rurality, and patients being referred for less appropriate examinations.
2.137Similarly, the committee heard that a lack of infrastructure, restrictive access to, and inequitable funding for PET and CT investigations continues to hinder ongoing clinical improvements, and results in high out-of-pocket costs for patients accessing the scans that they need.
2.138The committee was alarmed to hear that discrepancies exist in eligibility for Medicare reimbursements for PET scans based on cancer type – where patients with certain types of cancers are eligible for reimbursements, whilst others with different forms of cancer, are not.
2.139The committee also holds concerns about the inequitable distribution of PET/CT machinery across the country, which was highlighted in particular by inquiry participants who appeared at the committee’s hearing in Adelaide.
2.140The committee also agrees that Medicare items for PET diagnosis and restaging of rare cancers should be reviewed as a matter of priority.
2.141The committee recommends that the Australian Government enable increased reimbursements for MRI, PET and CT services throughout the diagnosis, surveillance and restaging of rare cancers.
2.142The committee recommends that the Australian Government, in partnership with state and territory governments, undertake a review of the distribution and availability of MRI, PET and CT services and infrastructure across jurisdictions, with a view of ensuring more equitable access to these services going forward.
Genomic testing and screening
2.143The committee understands the importance of screening in improving cancer outcomes, in that it helps to detect cancers early, at an asymptomatic stage, when treatment is more likely to be effective.
2.144The committee received a substantive amount of evidence advocating for greater access to, and investment in genomic testing and screening. The committee agrees that further investment and reforms in this area have the potential to provide significant benefits for all cancer patients, particularly those with rarer forms.
2.145The committee holds concerns that the current regulatory environment permits life insurers to use genomic test results when underwriting life insurance contracts, which can result in denials of cover, or increased premiums for life insurance and some other insurance products.
2.146Whilst an industry self-regulated, partial moratorium on these practices has been in place since 2019, the committee received compelling evidence that this moratorium has not provided sufficient assurance to patients and their families, who continue to refuse genomic testing in fear of the implications for their, or their children’s future life insurance.
2.147The committee also notes that Australia lags behind several jurisdictions internationally, who have already adopted bans and regulatory responses to prohibit this practice. It also notes that a comprehensive review to investigate solutions to these matters has already occurred, with Monash University’s led A-GLIMMER Project concluding that the Australian Government must legislate a complete ban on insurers using genetic test results to discriminate between applicants for risk-rated insurance.
2.148The committee notes that the Department of the Treasury is currently consulting on and considering policy solutions for this issue, however the committee firmly believes sufficient work has already been undertaken to confirm that the Australian Government must legislate a complete ban on this practice.
2.149The committee recommends that, as a matter of priority, the Australian Government legislate a complete ban on genetic discrimination in life insurance.
2.150The committee also understands that out-of-pocket costs for genomic screening and profiling is limiting uptake for Australian patients, and also creating inequitable access across the country.
2.151Again, the committee draws on international comparisons, and notes that patients in England facing a cancer diagnosis have access to reimbursement for comprehensive cancer genomic profiling through the National Health Service, and that other jurisdictions including France, Germany, Denmark, Belgium and Korea have more advance levels of access to genomic testing for patients.
2.152Given the significant benefits that genomic testing and screening can offer patients, the committee believes that the Commonwealth should consider the potential of further developing genomic testing and screening for Australian patients.
2.153The committee recommends that the Australian Government investigate opportunities to increase equitable uptake and access to genomic screening and profiling for Australians.
2.154The committee also heard about the potential of using genomic testing for preventive purposes, to allow people to engage proactively with their health and prevent cancer from occurring in the first place.
2.155The committee notes the high level of public interest and engagement in the ‘DNA Screen’ study, which is determining the feasibility, scalability and public acceptance of this type of population-based screening in Australia.
2.156The committee is encouraged by the possibility of such a population-wide genomic screening program in Australia, and the vast public health benefits this could deliver, particularly for those with rare and less common cancer.The committee considers that the outcomes of the study should be monitored closely, and that further investment to gauge the effectiveness and appropriateness of such screening programs should be explored further.
2.157The committee recommends that the Australian Government closely monitor the outcomes of the DNA Screen study, and the implications of the study for the future development of population wide, preventive genomic screening programs.