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An infection of the CNS can be LIFE TREATENING
Meningococcal disease and encephalitis are common CNS infections affecting children
Broad-spectrum antibiotics are often used until a diagnosis is confirmed
=
Increased risk of antimicrobial resistance
By 2050, antimicrobial resistance could cost the economy $370 BILLION
Infections in the brain and spinal cord (central nervous system [CNS] infections) can be caused by bacteria or viruses. In Australia, meningitis and encephalitis are the common CNS infections in children [165, 166]. These infections have affected more than 4,000 children in Australia over the past 10 years [167, 168]. They can be very serious, leading to an increased risk of death and long term complications, such as cognitive impairment (e.g., memory problems), seizures and loss of vision [169-171].
Prompt medical assessment and treatment for children are critical for survival [169-171]. Treatment must begin immediately with broad-spectrum antibiotics, and once the exact cause is determined, a more targeted therapy should be initiated [171].
To diagnose CNS infections, a sample of the cerebrospinal fluid (the fluid surrounding the brain and spinal cord) is taken for laboratory analysis [172]. However, traditional diagnostic methods require 1 to 3 days to determine the exact cause of infection. This delay means that broad-spectrum antibiotics or anti-virals are used for longer than needed, increasing the child’s risk of adverse events, lengthening their hospital stay and accelerating the development of microbial resistance to antibiotics [166, 171]. While only one of many cases in which antibiotics are used, current projections indicate that antimicrobial resistance could cost the Australian healthcare system $370 million by 2050 [173].
Treatment options vary depending on the cause of infection, and the overall health of the child. On average, children with a CNS infection stay in the hospital for 6 days, and each day in hospital costs $1,816 [174, 175]. However, if the exact cause of infection is determined faster, children’s health outcomes can be improved and both the length of stay in hospital and its costs can be reduced.
As a countermeasure to the shortcomings of traditional diagnostic methods requiring long incubation times (1-3 days), the Multiplex Polymerase Chain Reaction Meningitis and Encephalitis Panel (multiplex PCR test) was developed [166]. The multiplex PCR test can effectively detect up to 14 potential pathogens of meningitis and encephalitis from a single cerebrospinal fluid sample within 1 hour [166, 171].
The utilisation of this rapid diagnostic tool can lead to significant benefits such as reduced broad-spectrum antibiotic usage, anti-viral usage, shorter hospital stays, and lower hospital costs [166, 171].
The effectiveness of the multiplex PCR test in children with CNS infection was compared to traditional diagnostic methods in patients in the Top End region of the Northern Territory, Australia. The impact of the multiplex PCR test in terms of reduction in hospital length of stay was assessed [166].
The impact, however, could be even more significant than that seen in the Northern Territory trial as the multiplex PCR test was not performed immediately after the cerebrospinal fluid was obtained [166]. Had the test been performed immediately, there would have been an even larger improvement in time to determine the exact cause and length of hospitalisation [166]. For example, a study conducted at Australian Capital Territory Pathology estimated that median turnaround time for the multiplex PCR test was 2.9 hours, compared to 21.1 hours for traditional laboratory testing [178].
WHO [5]
At present value, if the multiplex PCR test was utilised nationwide, it could lead to Government savings of over $35.2 MILLION from reduced hospital days alone over the next 10 years.
Duration of intravenous acilovir administration, which is nephrotoxic, was reduced by 11 hours3
Time using antibiotic treatment reduced from 3 to 2 days1
Hospital length of stay reduced from 5 to 3 days 1
~9,684 CNS Infections in children
One day in hospital with a CNS infection costs $1,816
19,367 days in hospital avoided with multiplex PCR test
Source: 1. O’Brien [166], 2. Evans [176], 3. IHACPA [174], 4. IHACPA [175], 5. Beaman [177], 6. Huppatz [168]
Notes: The number of days in hospital avoided in O’Brien [166] was used to estimate the total number of avoided days if the multiplex PCR test was adopted nationwide for next 10 years. Calculations on file.
The impact of the multiplex PCR test is far-reaching. Instead of using broad-spectrum antibiotics or anti- virals, healthcare professionals can prescribe targeted treatments within one hour of collecting cerebrospinal fluid, increasing responsiveness. Children therefore receive access to the right treatment at the right time reducing the risk of death, illness and time spent in hospital while improving equity of care. With hospitalisation costs of $1,816 per day for CNS infected patients, utilisation of multiplex PCR tests could save the Government up to $35.2 million in hospital costs alone over the next 10 years while also significantly improving the welfare and experience of thousands of children [166, 168, 174- 177].
Beyond the immediate value, the multiplex PCR test has long term advantages for children and their family. Giving the right treatment at the right time plays a critical role in the global fight against antibiotic resistance. Using targeted treatments more rapidly results in optimisation of current healthcare practices while ensuring antibiotics remain effective for future generations.
115,000 people live with chronic HCV, and many are unaware that they have it
A CURE is available for people diagnosed with HCV
Testing of HCV is declining
Between 2016-2030… HCV could cost $3.0 billion in direct health costs and $26.1 B in lost productivity and premature deaths
Hepatitis C (HCV) is a viral infection that affects the liver. HCV is spread through contact with infected blood. This can happen through sharing needles or syringes, or from unsafe medical procedures such as blood transfusions with unscreened blood products. [150] About 70% of people with HCV develop a chronic (long term) illness. The prolonged infection can lead to severe liver damage, including scarring (cirrhosis) and liver cancer, which can be life threatening. [150]
In Australia, over 115,000 people live with chronic HCV, with many unaware of their status [151]. In 2021 alone, Australia saw 7,487 new cases [152], with higher rates in rural and regional areas [152] and among the Aboriginal and Torres Strait Islander communities.
Although no vaccine exists for HCV, there are effective new treatments known as direct- acting anti-virals (DAAs). These treatments are available in Australia and can not only treat but cure the disease [150, 153].
With a curative treatment available, WHO has set a goal to eliminate HCV virus infection by 2030. However, Australia’s ability to reach this goal is threatened by declines in HCV testing and treatment globally. The main obstacle to increasing HCV diagnosis and treatment is the current diagnostic process, which often requires approximately five visits and up to 4 weeks before receiving a diagnosis. This can result in many people being lost to follow-up. This problem is particularly pronounced in key target populations, such as people who inject drugs, individuals in prisons and Aboriginal and Torres Strait Islanders. [154]
If testing and treatment continues to decline, between 2016-2030, it could cost $3.01 billion in direct health costs (treatment, testing and disease management), and $26.14 billion in lost productivity and premature deaths [155].
Timely diagnosis and treatment of HCV is critical to achieve the WHO elimination goal [14]. Traditional testing pathways involve an HCV antibody test to confirm exposure and an HCV RNA test to detect active infection [154], thus requiring multiple visits before gaining a diagnosis. Recent advancements, and availability of finger-stick POC testing has changed clinical management, making it easier and faster to diagnose and treat patients. The HCV POC tests is accurate [156] and can detect an infection within one hour [154]. The test enables rapid diagnosis and treatment in a single visit, rather than in five visits with conventional testing methods. Patients being lost to follow up is therefore significantly reduced.
With the introduction to HCV POC tests, it has facilitated high HCV treatment uptake in needle and syringe programmes (78%) [157], medically supervised injecting rooms (89%) [158], mobile outreach models (74%) [159], and prisons (93%) [159].
Building on the success of the POC testing for COVID-19 implemented with remote Aboriginal and Torres Strait Islander communities (see COVID-19 case study), the National Australian HCV POC Testing Program was funded by the Australian Government. HCV POC testing was made available at sites with high-risk individuals, such as drug treatment clinics, needle and syringe programmes and prisons. The test as well as the cure was therefore brought to the person. [154]
In 2022, 5,733 POC tests were performed and 14% of people were identified as having a current HCV infection [154]. Within the program, it is estimated that 75% of those diagnosed were able to begin immediate treatment, , compared with the 26% to 60% initiation rate seen with conventional testing, which often occurs with a substantial delay [154, 160]. This rapid and efficient POC testing facilitated a broad reach, allowing a large number of individuals to be tested and treated swiftly, providing many with the opportunity for a cure [161]. As a result, it is estimated that the program saved approximately 9 to 29 additional lives, compared to conventional testing methods. These life-saving results and the associated costs were calculated using the best publicly available evidence and more comprehensive analyses are required to determine the full value of the program. Furthermore, while not factored into the cost savings, the average cost to identify patients and initiate HCV treatment via POC testing is estimated to be up to 35% less than that of traditional testing methods [162].
We have a fantastic opportunity in Australia to eliminate hep C, but to mobilise all the people with hep C and connect them to treatment and cure is going to be a major challenge which requires significant resourcing.”
The implementation of the HCV POC Testing Program saved the Government between $1.9 and $6.2 MILLION over one year as a result of saving an additional 9 AND 29 LIVES.
5,733
HCV POC tests performed over one year across 41 sites
Source: 1. Grebely [154]; 2. World Health Organization [163]; 3. Grebely [154]; 4. Yousafzai [160]
Notes: Results from the program conducted in 2022 Grebely [154], were used to estimate the impact of the number of additional lives saved compared to conventional testing methods. Grebely [154] reported that 535 people initiated treatment. Given DAAs cure at least 95% of people [163], and reduces the risk of death by 8%, it was estimated that approximately 44 deaths due to HCV were avoided because of the program. However, this mortality risk reduction might be overstated, as the HCV-afflicted demographic in the United States is generally older than that in Australia. Nevertheless, an estimate of lives saved using conventional testing was calculated by subtracting the expected number of people who would have initiated treatment without the HCV POC testing program from those saved by the program. The actual advantage of the program, in terms of lives saved, is estimated to be from nine to 29 lives compared to conventional testing. With the value of a statistical life year estimated at $227,000, the Government is conservatively projected to save the cost of one statistical life year for every additional life saved through this initiative. These calculations are based on the best evidence publicly available and strictly account for the savings related to the value of a statistical life. To fully understand the program’s comprehensive value, a more detailed economic analysis is required. Disclaimer: Only publicly available sources were used to develop the model. Kirby Institute were not involved in model development and involved in data interpretation only.
There is a cure available for those diagnosed with HCV. However, to provide a cure for patients, it relies on detection of the infection. The value can thus only be realised with access to the HCV POC test as well as the program.
Traditional testing methods that are more widely available are resulting in a decline in testing rates as testing and treatment requires up to five visits, while the HCV POC testing program requires one. The POC testing program enables diagnosis and treatment in a single visit, allowing responsiveness to a positive result. Bringing the test to those most at risk and in hard to access areas – in prisons, and in the community such as needle exchange programmes – increases equity. Through a short duration, of the people tested, 14% had a current infection and 75% initiated treatment meaning that most can achieve a cure and can live longer and healthier lives.
For the value of this program to continue to be realised, appropriate funding is vital. Such investment not only holds the potential to save lives and enhance health outcomes but also brings us closer to achieving the WHO’s goal of HCV elimination by 2030.
This report demonstrates the excellent efforts to reduce HCV disease burden by testing and treating at-risk and traditionally hard to reach populations through POC technology, an activity that not only has immediate personal benefit, but significant society and healthcare system benefits ongoing. These activities are working towards the WHO goal of eliminating HCV by 2030. In February 2023, WHO also released a resolution urging Member States to establish national diagnostic strategies in recognition “that diagnostics are vital for the prevention, diagnosis, case management, monitoring and treatment of communicable, noncommunicable, neglected tropical and rare diseases, injuries and disabilities”. Establishment of a National Diagnostics Strategy and Roadmap would align with WHO goals while increasing the sustainability of important initiatives such as those undertaken through the HCV POC testing activities.
Over 22,700 COVID deaths between 2020 and 2023
3% of COVID-related hospitalisations require admission to the ICU
COVID-19 has cost the economy $158 billion
The coronavirus disease of 2019 (COVID-19) was declared a worldwide pandemic in March 2020. Since then, multiple waves have infected over 11.5 million Australians and caused over 22,700 deaths [139].
COVID-19 is highly infectious and results in a wide range of symptoms. While many people experience mild symptoms, some can become seriously infected and are hospitalised. For patients who are hospitalised, 3% require admission to the ICU. [140] Older people and those with pre-existing medical conditions like cardiovascular disease have a higher risk of severe disease [139, 140]. First Nations people in remote communities, who experience a burden of disease that is 2.3 times the rate of non-Indigenous Australians, are also more likely to be affected by COVID-19 [141].
Extensive and rapid public health measures – such as contact tracing, physical distancing, testing and subsequent isolation – were employed as a response to the pandemic [140]. While these measures allowed Australia to avoid many of the worst effects of COVID-19 seen abroad, the pandemic still had, and continues to have, major impacts on the health and wellbeing of the community [142-144].
COVID-19 is estimated to have cost the economy $158 billion and a number of shortcomings in Australia’s response to the pandemic have contributed to this huge cost [32]. Insufficient planning, inadequate infrastructure, and a lack of national coordination of public health measures reduced our capacity to respond in a timely and efficient manner. Further investment in these areas is critical to ensure the healthcare system is ready to face the challenges that the next pandemic will bring [142].
COVID-19 is a highly infectious disease that presents significant risks to First Nations people in rural, regional or remote communities. These communities are already at a higher risk of poor health due to a history of colonisation, multiple underlying conditions, limited access to medical facilities and challenges in isolating from others [145]. As laboratory services that test for COVID- 19 can be hundreds of kilometres away for many of these communities, molecular POC testing is particularly beneficial. Molecular POC testing enables swabs to be tested for the virus within the health service by trained health care staff and provides an accurate result within 45 minutes [141]. Performing a Nucleic Acid Amplification Test to detect viruses, such as COVID-19, the technology can also be used to detect the presence of bacteria such as tuberculosis [145-147]. Molecular POC testing technologies aim to intervene at every stage of the disease to quickly and accurately identify infected patients [145-147]. This technology has played a key role in containing the multiple COVID-19 outbreaks in Australia [145-147].
The Aboriginal and Torres Strait Islander COVID- 19 POC Testing Program was established in March 2020 as an immediate response to the pandemic. The Program was implemented under the governance of the National Aboriginal and Torres Strait Islander COVID-19 Advisory Group and led by The Kirby Institute University of New South Wales (NSW) and Flinders University International Centre for POC Testing. It involved molecular POC testing delivered within remote health clinics to First Nations communities, run by Aboriginal Community Controlled Health Services and state/territory health services [145, 146, 148]. The provision of molecular POC testing enabled COVID-19 to be identified, treated, and contained in a quick and accessible way to prevent widespread community transmission [145-147].
An evaluation of the Aboriginal and Torres Strait Islander POC Testing Program demonstrated its effectiveness in delivering fast and accurate on- site molecular POC testing when rapid antigen tests were not yet available in Australia. Molecular POC testing enables swift initiation of public health interventions, including rapid community vaccination programs, to help prevent the potentially severe health impacts of COVID-19. [145] Without this testing program, people would have had to wait around 6 days for a result from a centralised laboratory. However, because the Program was funded in a timely fashion, the opportunity to identify positive cases was maximised, enabling effective contact tracing and breaking the link in transmission. It is estimated that in the first 40 days from the first case being identified, between 23,000 and 123,000 infections were averted as a direct result of the Program. [145]
Molecular POC testing also provided protection for those at particularly high risk of developing severe illness, by early identification of a positive case. It is estimated that at least 83,000 hospitalisations and 6,319 ICU admissions due to COVID-19 infection were avoided over 2 years because of POC testing, and around 16,875 medical evacuations were also likely to have been avoided. [145]
Prior to the implementation of molecular POC testing, some remote communities were chartering flights to transport swabs and symptomatic individuals to the nearest town to isolate while waiting on a test result. The prevention of this air travel through POC testing would have also significantly benefitted the environment through a reduction in carbon emissions. [145]
The implementation of the COVID-19 POC Testing Program in rural First Nations communities saved the Government between $337 MILLION AND $1.8 BILLION over the first 40 days following the identification of the first case of COVID-19.
Between 23,000 and 122,000 COVID-19 infections averted in the first 40 days following the identification of the first case of COVID-19
At least 4,564 hospitalisations due to COVID-19 infection averted in the first 40 days following the identification of the first case of COVID-19
At least 346 ICU admissions due to COVID-19 infection averted in the first 40 days following the identification of the first case of COVID-19
At least 924 medical evacuations due to COVID-19 infection averted in the first 40 days following the identification of the first case of COVID-19
Source: Department of Health and Aged Care [145]
Notes: Results are taken from the Department of Health and Aged Care 2022 report. The report did not account for the introduction of vaccination and rapid antigen testing and assumed 70-100% compliance with community lockdown. Deaths and other costs associated with non-hospitalised patients were not included in the calculations.
The more infectious a disease, and the further away from centralised laboratory services a community, the more valuable POC testing becomes [145]. The provision of molecular POC testing during a global pandemic when the effects of a viral infection were largely unknown enabled communities to conduct testing within their health service where they otherwise would have had to rely on centralised laboratory services. The implementation of the POC Testing Program in a swift manner ensured that the true value of molecular POC testing was realised. Healthcare resources were utilised in the most efficient way possible and services were able to continue operating.
POC testing provided easy and equitable access of care to rural, regional, and remote populations vulnerable to the effects of COVID-19. The test enabled the protection of close contacts and rapid treatment for those who needed it. Positive cases and their close contacts were identified as early as possible, minimising transmission and keeping communities safe while avoiding substantial costs.
The Aboriginal and Torres Strait Islander POC Testing Program has also provided immeasurable value in the foundational infrastructure it has created. This model can be leveraged for future pandemic or outbreak responses that necessitate a quick and effective response to protect the community.
The exceptional impact demonstrated by the effective and targeted use of POC COVID-19 testing does not have to be limited to emergency pandemic response plans. Lessons learned from this project can be recorded and applied throughout the country, coordinated through a National Diagnostic Strategy and Roadmap, and applied to a range of populations and healthcare needs. Such a plan can centralise and focus limited health resources and budgets and maximise the value that is offered through pathology technology. Centralising knowledge and response processes in this way helps to connect existing silos within our healthcare landscape, reducing wasteful repetition and expanding benefit to more patient populations.
~ 1 in 5 patients receiving a massive transfusion die
Blood is a vital natural resource and is identified as one of the top over-utilised treatments
$1.2B
is spent each year on blood products associated hospital experiences
During surgeries, organ transplantation, childbirth, or when there has been a car accident or other injury, there is a risk of heavy bleeding [179]. When a person bleeds heavily (known as a major haemorrhage), patients require administration of large volumes of blood [179]. Managing these events can be complex, and is life threatening for patients [180]. In Australia between 2011 and 2015, almost 1 in 5 patients receiving a massive transfusion did not survive [102].
Blood, a vital natural resource, forms the cornerstone of our healthcare system [181]. Blood is generously donated, and excessive blood use places a huge burden on health expenditures. Australian annual expenditure on blood products is staggering, exceeding $1.2 billion [181, 182]. Each unit of red blood cells costs around $412 [183].
Inclusive of hospital expenses, a single transfusion could cost over $1,000 per patient. [183] Appropriate use of blood not only conserves this invaluable resource but also minimises health complications such as allergic reactions and the potential of disease transmission. With 29,000 donations made weekly in Australia, blood transfusion is a common therapeutic procedure, however it is frequently overused. Excessive blood usage and its impact on patient outcomes emphasise the importance of Patient Blood Management (PBM) programs, especially in a world where healthcare budgets are tightening as the population is ageing. [183]
PBM is aimed at enhancing clinical outcomes by reducing unnecessary use of scarce blood supplies [184, 185]. POC coagulation tests are important in achieving the aims of PBM as the test provides detailed information in only 5 to 20 minutes, enabling fast and targeted treatment decisions [186]. In comparison, conventional coagulation tests offer limited information and targeted treatment decisions take between 40 to 60 minutes [186].
The World Health Organization strongly supports the adoption of POC coagulation tests as part of PBM, highlighting its ability to guide healthcare professionals in blood product selection, expedite outcomes, reduce reliance on donor products, and prioritise patient-centred care [185]. Although Australia pioneered this domain, its adoption of POC coagulation tests has been slow. Queensland and Western Australia have incorporated this technology into their care, but not all states have followed suit. One reason is that the POC coagulation tests are more expensive than conventional tests. While pathology budgets incur the full expense of these tests, the broader benefits and cost savings of faster and more detailed testing to the wider healthcare system are not accounted for within the pathology budget. POC coagulation tests have therefore not been consistently funded across states, despite the clear benefits to patients and the healthcare system as a whole.
The world’s largest study on the impact of implementing a PBM program and adopting POC coagulation testing was conducted in Western Australia. The study included 600,000 patients admitted to Western Australia’s four major adult hospitals between 2008 and 2014.
Over the six-year study period, the program was associated with healthcare system and resource savings with a significant reduction in the use of blood and long-term improvements in patient outcomes. [187]
If PBM, including access to POC coagulation testing, was adopted nationwide it could lead to Government savings of between $1.4 AND $1.8 BILLION over the next 10 years.
$1.4 to 1.8 BILLION could be saved on transfusion administration, hospital and blood poduct costs over 10 years if PBM, including access to visoelastic testing was adopted nationwide
$324.9 MILLION could be saved on blood products over 10 years if PBM, including access to POC coagulation testing was adopted nationwide
41% reduction in use of red blood cells
47% reduction in use of plasma cells
27% reduction in use of platelets
15% reduction in hospital length of stay
28% reduction in hospital deaths
31% reduction in number of strokes
Source: Leahy [187], IHACPA [175]
Notes: The findings from Leahy [187] included data on hospital admissions in four major hospitals in Western Australia and the cost savings over 6 years if PBM and POC coagulation testing is used. The cost savings calculated from Leahy [187] were then used to project potential savings if PBM were adopted nationwide for ten years. Calculations on file.
The POC coagulation test as part of PBM has the potential to enhance healthcare delivery and optimise resources throughout Australia, moving beyond the specific states or hospitals that currently use it. With faster and more precise treatment decisions, the POC coagulation test not only improves patient health outcomes but also considerably reduces medical expenditures.
By facilitating faster and more precise treatment decisions there is a substantial decrease in the consumption of blood – a precious resource generously donated. This not only conserves the invaluable blood resource but also reduces the associated costs of transfusion administration. POC coagulation tests can provide a more responsive healthcare approach, underscoring its immense value in the broader context of hospital efficiency.
people have a rare genetic disease in Australia
Before the introduction of WES/WGS, average wait to diagnosis was 6 years
Yearly cost of raising a child with a genetic condition can be up to $100,000 per person
Genetic conditions encompass a diverse range of diseases that include specific birth defects, chronic conditions, developmental challenges and sensory impairments. These conditions are caused by variations in an individual’s DNA [96]. Some genetic conditions are individually rare but in Australia , one in 17 people will encounter a rare disease of genetic origin in their lifetime, with the majority being children [97, 98]. Alarmingly, genetic conditions are the primary factor of paediatric mortality in developed countries [99, 100].
These conditions can be complex, often requiring frequent, multi-disciplinary medical care and, in severe cases, immediate intensive care [12, 101]. While many genetic conditions lack a cure, prompt and appropriate treatment is crucial to enhance life quality and longevity [102]. 1 in 17 people have a rare genetic disease in Australia Before the introduction of WES/WGS, average wait to diagnosis was 6 years Yearly cost of raising a child with a genetic condition can be up to $100,000 per person Given their complex and rare nature, genetic conditions often lead to a ‘diagnostic odyssey’, where there is a prolonged delay in diagnosis or no diagnosis at all [103]. Before the introduction of whole exome sequencing (WES) and whole genome sequencing (WGS), patients waited on average six years for a diagnosis through the standard diagnostic pathway [103]. Often, patients remained undiagnosed and 38% of families consulted with at least six doctors before receiving a diagnosis [101, 103]. Such late or incorrect diagnoses lead to substantial financial, physical, and mental health burdens for the patient, their family, and the Government [97, 103]. For critically ill children, delayed or misdiagnoses can be fatal [97, 104]. The financial burden varies by disease, but annual costs for raising a child with a genetic condition can reach up to $100,000 per individual. Research has shown that these costs can be reduced with improvements in a child’s intellectual functioning, facilitated by early diagnosis and targeted interventions. [105]
WES involves reading and analysing specific parts (approximately 2%) of a person’s DNA [106]. In Australia, WES was one of the first genome sequencing innovations available for children with suspected genetic conditions. Before the introduction of WES, standard of care testing (i.e., chromosome microarray or panels) only provided about 14% of these children with diagnosis. With WES, the number of children diagnosed increased to 52% and the average time taken to get a diagnosis has reduced from six years to approximately 6 months.[103]
An application to MSAC for the use of WES in children with suspected genetic conditions who remain undiagnosed after chromosomal microarray was initially made in 2016 [191]. However, in this period, developments in genomic sequencing resulted in the emergence of a more thorough test known as WGS, which has the capability to analyse a person’s entire DNA [107]. WGS is less susceptible to technical distortions and blind spots and offers a superior diagnostic potential for genetic conditions compared to WES [192].
The lengthy delays by MSAC in funding WES resulted in WES not receiving a recommendation on its own. Instead, a few years subsequent to the initial WES application, WGS was incorporated [191].
Finally, five years post the original application, MSAC ultimately recommended the use of either WES or WGS in children with suspected genetic conditions [108].
Both WES and WGS help medical professionals identify and diagnose children with a genetic condition and play a crucial role in determining a personalised care plan [97, 109]. During this period, many children who could have benefitted from the use of WES or WGS were not able to access it. Without a confirmed diagnosis, they missed out on the opportunity for timely and targeted treatment/management plans as well as the value of knowing a diagnosis for parents to reduce stress and anxiety and enable them to plan for the future [101].
Similarly, while MSAC was in the process of evaluating WES/WGS, rapid whole genome sequencing (rWGS) emerged. Although rWGS diagnoses a comparable number of children as WES and WGS, its time to diagnosis is drastically reduced to an average of 2 weeks, and an impressive 2-3 days for ultra rWGS [12, 110, 111, 137]. This speed is particularly crucial in the Intensive Care Unit (ICU) environment, where time-sensitive decisions for critically ill infants and children can be life-saving [112]. Despite numerous studies demonstrating the benefits of rWGS, it has yet to be listed on the MBS [111, 112, 137].
Providing access to WES and WGS increases the number of children diagnosed and significantly reduces the time to diagnosis for children with suspected genetic conditions [104, 119]. This provides benefits for patients, their families, and the Government. The original MSAC application was for WES and, consequently, the impacts have been modelled as such [191]. Nonetheless, it is important to note that since WGS possesses greater diagnostic capabilities, the modelled impacts might be even more substantial had it been available and used from the MSAC application submission in 2016 to 2020, the year WES and WGS was listed [192, 193].
Compared to the previous standard of care requiring several targeted genetic tests over an average of 6 years, WES can lead to savings for the Government through a reduction in the time to diagnosis, number of tests, specialist appointments and other procedures required [103, 109]. Families can also save on the out of pocket expenses associated with multiple tests and appointments [103, 123].
Knowing a child’s diagnosis earlier is of immense value for families. This clarity offers insights into the disorder’s cause, its potential progression, and the risks it might pose to other family members. [113] Armed with this knowledge, parents and clinicians can make well-informed choices about treatments and financial planning, reducing the associated cost of its management for families and the Government [109].
The emotional toll of a delayed diagnosis can result in mental health challenges for parents [114, 125]. Obtaining a timelier diagnosis can reduce this mental health and emotional burden [101, 125]. An earlier diagnosis with WES also allows some parents to return to work, increasing their earning potential [123].
Children with diagnosed genetic conditions have greater opportunities to access support services and special education. This provides long term value in allowing a child to reach their full potential and fostering inclusive and equitable access to education. [97]
Beyond the measurable benefits, WES brings countless intangible impacts to patients and the wider society, including better long term patient outcomes [194]. The increase in diagnosis of these rare, genetic conditions may also provide greater awareness and knowledge surrounding these disorders, leading to more research and better treatments or, even, a cure [195, 196].
At present value, if access to WES/WGS had been made available to all children with suspected genetic conditions when the application was submitted in 2016, an estimated $158.9 MILLION* in net benefits would have been created in Australia from 2016 to 2020 (the year it was listed).
Source: Calculated from: [77, 79-95]
Notes: Direct and indirect foregone savings were estimated based on the incremental benefit of having access to HRD testing in Australia, allowing BRCAwt HRD+ ovarian cancer patients to access treatment. Australian data sources were used where available to estimate the foregone savings that could have been avoided if patients had access to HRD testing. Foregone savings were measured over the two year period 2022-2023.
Compared to WES/WGS, the introduction of rWGS has now enabled clinicians to diagnose rare genetic conditions in critically ill infants and children (collectively called children throughout this section) who require immediate and effective care [104]. Economic models based on real world clinical studies estimate cost savings for the Australian health system after implementing rWGS in the neonatal or paediatric ICU [110].
Diagnosing more patients earlier can eliminate the need for numerous tests, prevent unnecessary treatments and decrease the length of hospital admissions, significantly reducing Government hospital spending [110]. Reducing time spent in hospital also reduces the amount of time a parent spends in hospital away from work or alternative tasks [110, 197].
With rWGS, diagnosis can occur in less than 14 days [110]. A timely diagnosis maximises the opportunity to appropriately treat these critically ill patients and rapidly provide lifesaving treatment [100, 109]. Substantial cost savings are also incurred by the Government in lives saved [138].
Obtaining a precise diagnosis for a critically ill child not only provides valuable knowledge but also offers a sense of reassurance to parents [198]. It empowers them with crucial information about the disease, its origins, how it progresses, and the potential risks it poses to other family members [115]. The impact on a patient’s family is also evident in the opportunity for cascade testing which facilitates decisions around reproduction and risk management. Increased diagnoses increase the opportunity for family members to be tested and diagnosed [115, 131]. Parents of critically ill children with suspected genetic conditions can experience improved welfare and mental wellbeing [109]. Reducing time to diagnosis increases a child’s chance of receiving better care, alleviating the mental burden on parents associated with an uncertain diagnosis and treatment plan [109].
“…there is so much angst waiting for results and this is compounded by caring for a very sick child. Having the test come back quickly lifted an incredible weight and stress from our shoulders [115].”
As above, beyond the measurable benefits, rWGS brings countless positive impacts to patients and the wider society that cannot be adequately measured due to the lack of data available. Obtaining a diagnosis can also lead to palliation, ensuring a child is not suffering unnecessarily before they die [104, 129].
At present value, if rWGS had been made available to all patients that could benefit from it when the Acute Care Genomics Study had been established in 2018, an estimated $370.6 MILLION in net benefits would have been created in Australia over the past 5 years.
in income/savings for parents of critically ill infants and children with suspected genetic disorders over 5 years as they avoid missing work to stay in the ICU with their child due to earlier diagnoses.
Saved by parents of critically ill infants and children with suspected genetic disorders over 5 years due to more diagnoses being made and increased information provided.
Source: Calculated from: [77, 79-95]
Notes: Direct and indirect foregone savings were estimated based on the incremental benefit of having access to HRD testing in Australia, allowing BRCAwt HRD+ ovarian cancer patients to access treatment. Australian data sources were used where available to estimate the foregone savings that could have been avoided if patients had access to HRD testing. Foregone savings were measured over the two year period 2022-2023.
Delays in accessing new innovation such as WES/WGS leads to missed opportunities for cost savings and benefits that could otherwise be realised by patients, their families and the Government. Time is precious and responsiveness is critical for children with genetic disorders, as quicker and fewer tests can improve survival and quality of life.
Obtaining a diagnosis enables treatment personalisation, ensuring that children can receive the best possible care. The value of receiving a diagnosis for a child, particularly when seriously ill or after years of investigations and unanswered questions, is far-reaching. Knowing a diagnosis alleviates the mental burden on parents and helps them make informed decisions regarding their child’s care. This includes enabling the difficult decisions surrounding palliative care, which can provide peace to families, relieve the suffering of a child and improve their quality of life.
Alternatively, parents can hope for better treatment and long term outcomes for their child and plan for their future. Diagnosing more children with rare, genetic disorders also promotes knowledge dissemination throughout a family with cascade testing. This not only aids in identifying and managing the condition in other family members but also informs family risk management and future pregnancies.
Advances in sequencing technologies like WES, WGS, and rWGS enhance diagnostic precision, yet slow adoption has cost $530 million. Accelerating access to these technologies is crucial for a healthcare system capable of effectively managing rare genetic disorders in children.
1,734 People were diagnosed with ovarian cancer in 2021
46% of patients die within 5 years of being diagnosed
Homologous recombination
deficiency (HRD) occurs in
$2.68 BILLION approximately 50% of women with ovarian cancer
Ovarian cancer, often detected in women post-menopause, is diagnosed at an advanced stage in over 75% of cases [68]. Its symptoms, like bowel changes, indigestion, fatigue, weight changes, menstrual irregularities, and abdominal pain, can be subtle and are frequently overlooked or misinterpreted. [69, 70] Coupled with inadequate early detection and low awareness, ovarian cancer is notoriously known as the “silent killer” and “forgotten disease,” leading to delayed treatment and worse patient outcomes. [69].
In Australia, ovarian cancer is the eighth most commonly diagnosed type of cancer for women, with an estimated 1,734 new cases in 2021 alone [71]. The 5-year relative survival for women with ovarian cancer in Australia is low at 46% [72]. Hereditary mutations in the homologous recombination repair pathway are one such risk factor.
The most important of these are BRCA 1 and BRCA 2, which are well known to be associated with an increased risk and predisposition to hereditary ovarian cancer. [73, 74]
Advanced stage treatment typically involves surgery and chemotherapy. However, about 70% of these women experience a recurrence [75]. When the cancer returns, it can be difficult to treat. However, new medicines, such as Poly (ADP-ribose) polymerase inhibitors (PARPi) are now being used to help manage and treat newly diagnosed advanced ovarian cancer.
Until recently, only patients with a BRCA mutation were able to access PARP inhibitors. However, since the evolution of the HRD test, the PBAC have now recommended that women who are HRD positive (HRD+) and do not have a BRCA mutation (BRCA wild type [wt]) have access to potentially lifesaving treatments, offering them a renewed hope for survival and possibly a chance to be cured [73, 76].
HRD testing uses a tumour sample to assess HRD positivity in newly diagnosed ovarian cancer patients [77]. HRD positive cancer cells hinder the cells’ ability to repair damaged DNA. Because of this vulnerability, HRD+ cancer cells can die when treated with PARPi [78]. To test for this, a tumour sample is needed. This may be taken during surgery for ovarian cancer or by taking a small sample of the tumour (biopsy) for examination [77].
Before the availability of an HRD test, women who were HRD+ and did not carry the BRCA mutation had limited treatment options available to them to improve their survival outcomes. Despite this strong medical need, a recommendation for universal access to HRD testing by the MSAC was delayed, in part, due to the requirement to have a local testing capacity. Delaying access to funded testing significantly impacts women and their families.
A PARPi for women with HRD+ advanced ovarian cancer was TGA registered on March 1, 2021. However, multiple unexpected delays in the MSAC process, and concurrent NATA accreditation and TGA notification process delayed access to the HRD test. The NATA accreditation process was commenced by the Peter MacCallum Cancer Centre (PMCC) in September 2022. However, new TGA regulations for In Vitro Diagnostic (IVD) companion diagnostics, which took effect on February 1, 2020, meant the TGA was also involved in the laboratory accreditation process. When the PMCC HRD test was eventually NATA accredited in early 2023, it became the first complex molecular in-house IVD companion diagnostics to be evaluated concurrently by NATA and the TGA. NATA accreditation was received seven months after submission.
Following an initial rejection by the PBAC and the MSAC in July 2022, the delays in testing accreditation described above, led the PBAC to defer their recommendation of the PARPi treatment for use in eligible HRD+/BRCAwt ovarian cancer patients.
The decision was pending the outcome of the MSAC meeting for the HRD test on March 30, 2023. The meeting’s outcome was eventually positive, with MSAC recommending the HRD test for use in March 2023. Consequently, PBAC pending NATA accreditation of the assay finally recommended the use of the PARPi treatment in eligible ovarian cancer patients four months later.
For patients with newly diagnosed HRD+/BRCAwt ovarian cancer, access to HRD testing and combination therapy can bring about life-changing benefits (9). The best available data was used to model the impact of access to HRD testing and combination therapy compared to current standard of care for newly diagnosed HRD+/BRCAwt ovarian cancer patients.
For the first time, these patients have access to a treatment that may improve survival and for some it may provide a cure. [76] This can reduce the need for palliative care while improving mental health and quality of life for patients and their families. Some patients may also return to work, increasing their income/savings while leading to increased tax revenue for the Government.
Carers, including friends and family also benefit from improved patient outcomes, with reduced social, emotional and economic burden. Without access to this treatment, patients with HRD+/BRCAwt ovarian cancer may continue to experience disease progression, losing their independence and ability to perform daily activities, relying more on their carers. [79]
Moreover, improved health outcome for patients with HRD+/BRCAwt ovarian cancer may increase productivity at work among friends and family who offer informal care. This leads to cost savings in annual revenue for employers. [80]
Compared to current standard of care, if access to HRD testing and combination therapy had been made available to newly diagnosed women with HRD+/BRCAwt ovarian cancer a year after suitable treatment was TGA registered, 88 LIVES may have been saved between 2022 and 2023 and an estimated $319.1 MILLION in benefits could have been created in Australia over the two years.
Saved over 2 years in increased time for carers of people with HRD+/BRCAwt due to a reduced carer burden. This time saved was measured as an opportunity cost, signifying potential alternate uses based on the average hourly wage.
Saved over 2 years by patients and their carers in improved mental health due to an increase in patients avoiding progression. Calculated according to Australian Government Office of Impact Analysis guidelines for valuing injury, disease and disability. Total 12-month cost
of mental health burden was $369,150 per patient and $727,040 per carer in 2023.
In increased income/savings over 2 years for patients with HRD+/BRCAwt due to an increased ability to work. When patients experience improved health outcomes as a result of combination therapy, those of working age may be able to return to work.
In increased tax revenue over 2 years for the Government. Improved health outcomes for some patients with HRD+/BRCAwt patients, may result in patients of working age working more productively or return to work. This, in turn, may reduce
income loss while simultaneously increasing tax revenue.
Saved over 2 years by employers of carers. carers of patients that experience improved health outcomes are likely to be more productive while at work. This increased productivity
(or presenteeism) was measured as a proportion of average wages earned by carers at their places of employment. On average, each employer was estimated to save $10,531.
Source: Calculated from: [77, 79-95]
Notes: Direct and indirect foregone savings were estimated based on the incremental benefit of having access to HRD testing in Australia, allowing BRCAwt HRD+ ovarian cancer patients to access treatment. Australian data sources were used where available to estimate the foregone savings that could have been avoided if patients had access to HRD testing. Foregone savings were measured over the two year period 2022-2023.
The delay in providing access to HRD testing and PARPi to eligible ovarian cancer patients has had a profound impact. It has not just impacted patients, but also their friends, families and employers.
At its core, the most significant value of HRD testing is the potential to save lives. As mentioned previously, the delay in accessing HRD testing, and by extension, superior care over the two-year period, may lead to an estimated 88 women dying unnecessarily. Moreover, about 26 women needlessly experienced disease progression during this period, which may have been averted with timely care.
Furthermore, HRD testing also brings mental health benefits to patients, their families, and caregivers. Knowing that they have access to treatment that would have otherwise been inaccessible provides hope.
Access to HRD testing also increases equity, ensuring more women have the chance to receive superior care. Regrettably, due to the delay in access to HRD testing, 377 women were denied access to PARPi over this two year period.
The failure to provide faster access to HRD testing has resulted in a loss of more than $319 million in benefits over two years. The foregone advantages ranges from hope and potential cure to the value of a life and improved equity for patients, their families, caregivers and employers.
It is well-understood that current HTA processes are ill-equipped to keep pace with the rapidly evolving landscape of genomic-technology- driven healthcare. Ongoing clinical trials with novel indications for use for the suite of targeted treatments coming to market all rely on the use of diagnostic technology to identify appropriate patients and conditions. The inequity connected to out-of- pocket HRD testing required for access to specialised medicines highlights the urgent need for an Accelerated Access program overseen by a specialist Diagnostic Advisory Group. Centralising decision making through a core of experts will minimise delays for patients who often have very limited windows available to action life-saving care.
Pre eclampsia can be LIFE TREATENING
Pre eclampsia is the most common serious medical complication of pregnancy
Early diagnosis and monitoring are crucial to keep the mother and baby safe
Affects 3% of pregnancies each year
Pre-eclampsia (PE) is a potentially serious complication of pregnancy, that affects approximately 3% of pregnancies in Australia [54]. The cause of PE remains unclear [55]. However, women at high risk of PE during pregnancy are more likely to have high blood pressure, chronic kidney disease, are over 40 years of age, or have a high body mass index [54]. Aboriginal and Torres Strait Islander women are also more likely to experience PE, with 3.4% of mothers in 2020 having PE [56].
Beyond its common symptoms such as high blood pressure and protein in the urine, there are a range of other warning signs like headaches, changes in vision, and abdominal pain [57]. When left undiagnosed or inadequately monitored, PE can result in eclampsia (seizures), strokes, and HELLP syndrome (haemolysis, elevated liver enzymes and low platelets), which can be life threatening for both the mother and the unborn child [54, 57].
Given the threat of PE to both the mother and the unborn child, it is recommended that women diagnosed with high risk PE should be hospitalised, whereas those with low or moderate risk PE do not require hospitalisation. However, uncertainty in confirming the diagnosis, leads to unnecessary hospital admissions of women with low or moderate risk PE [58]. The current management of PE is therefore associated with significant healthcare costs [59, 60].
The sFlt-1 / PlGF ratio test (PE ratio test) is the first automated test for identifying PE [58]. The PE ratio test in women with symptoms of PE can be used to rule out the condition or confirm the likelihood and severity of disease [57, 58, 61].
Where PE has been ruled out or they are at low risk, women can be managed along the normal ante-natal pathway [57]. Women at moderate risk of PE can be managed through increased level of outpatient assessment, and women at high risk can be admitted to hospital for management [57].
Without the PE ratio test, women at risk need much more monitoring, including multiple tests (e.g. urine protein test, and full blood count), regular clinical check-ups, day care monitoring during pregnancy, and early hospital stays [57]. While the current standard used can help diagnose PE, none of them have the predictive capacity of the PE ratio test [58]. The UK have therefore recognised the benefit of this test and have already supported the use of the ratio test to rule in (diagnose) or rule out (exclude) PE [57]. The PE ratio test has been approved for use in Australia since 2011, however it has not yet been reimbursed.
Women who are eligible for testing include those with clinical signs and symptoms indicative of PE. The PE ratio test, when compared to existing standard tests in Australia, such as the urine protein test and full blood count, not only reduces costs but also enhances patient care. Notably, utilising the PE ratio test reduces hospital admissions by 20%. [58] For each person tested, the Government is projected to save an estimated $642 due to this decrease in hospitalisations. [58, 62-64]]
At present value, if the PE ratio test had been made available one year post TGA registration in 2011, it could have led to Government savings of over $235.3 MILLION from reduced hospital costs alone over the past 12 years.
$235 M
could have been saved due to reduced hospital admissions over the past 12 years.
Approximately 6000
women avoid a hospital admission each year1
305.3 K
mothers having a baby in one year.
$642
saved per person who receives PE ratio testing1-4
10%
of mothers are estimated to be eligible for testing due to clinical signs and symptoms indicative of PE.
The delay in providing access to the PE ratio test in Australia means the broader value of the test is not being realised, especially when considering that the test was TGA approved in 2011. Not only does the PE ratio test enable more efficient resource utilisation — by reducing unnecessary hospital admissions and tests — it also represents an economic advantage for the Australian healthcare system. The test offers invaluable peace of mind by providing accurate and timely diagnoses, allowing expectant mothers and their families to make more informed decisions. It substantially reduces the risk of severe complications for both mothers and newborns, as they are able to receive appropriate treatment and monitoring at the right time, potentially saving lives. Its broader availability would also promote equity, benefiting women in rural and remote locations.
Until Australia provides funded access to the PE ratio test, estimated not to occur until at least 2025, the country will forgo the advantages that hold the potential to enhance individual wellbeing and the overall efficiency of the healthcare system.
Sarah, a social worker, was pregnant with her first child when she found out she had PE. Sarah experienced high blood pressure from the beginning of her pregnancy, and so she had more regular appointments with her obstetrician, and many short stays in hospital to check her blood pressure.
Until around 30 weeks of pregnancy, Sarah’s only symptom of hypertension was not accompanied by protein in her urine, and so PE was not considered. However, as the pregnancy progressed, she experienced additional symptoms including headaches, blurry vision, swelling, right shoulder pain, and carpal tunnel syndrome. Despite these symptoms and rapid weight gain, Sarah was reassured by her obstetrician at each appointment that she did not have PE. At 34 weeks, she listened to her intuition and went to the hospital, where she was diagnosed with PE and admitted for management of her blood pressure.
“… But then I heard a doctor say my name and that my urine was really high in protein and my heart sank. The obstetrician walked into our cubicle and said that I had preeclampsia.”
During her 6-day hospital stay, Sarah’s blood pressure remained difficult to manage despite increasing doses of medication, leading to a shift in focus from potentially sending her home to ensuring the baby remained in utero for as long as safely possible. That afternoon, she talked to her family about her fears surrounding PE and the “unpredictable spiral” it could take at any moment. Their wish was to have the baby as near to full term as possible, but knowing they had to be ready for anything.
The same evening unfolded with a midwife coming in to check her blood pressure. The midwife’s panicked eyes and urgent exit to fetch a doctor confirmed Sarah’s fears. The next thing she knew, the red emergency button was pressed, and she was surrounded by a medical emergency team. The atmosphere was tense as the team worked swiftly and efficiently, checking vitals, testing reflexes, and preparing medications. She could hear alarming phrases and see worried expressions as her blood pressure continued to rise despite the medication. She focused on breathing and praying, gripping her families hand for support. When the surgeon finally said it was time to meet her baby, everything became a blur of urgency and fear as her flight response kicked in, conflicting with the reality that surgery was the only safe option for both of them.
Sarah later delivered her son by emergency C- section, and both Sarah and her son, spent a week in the Special Care Unit before being able to go home.
Sarah has since begun to heal, when she found stories like hers from people who understood how hard a traumatic birth can be on the brain and body. She now shares her own story to hep others around the world who have experienced PE.
More than 102,000 people report to have
heart failure in Australia, but this figure may be significantly higher
$2.68 BILLION
is spent each year on the management of heart failure
Heart failure is a condition that occurs when the heart begins to function less effectively at pumping blood around the body [24]. It can occur suddenly (acute) but usually develops slowly (chronic) as the heart gradually becomes weaker [25]. Symptoms can include breathlessness, fatigue, and swollen ankles or legs [26].
More than 102,000 people are living with heart failure in Australia. Aboriginal and Torres Strait Islander people are three times more likely to be diagnosed than non-Indigenous people. Older individuals and people of lower socioeconomic status are also at an increased risk [25].
Diagnosis of heart failure is often delayed, with most patients receiving their first diagnosis after being hospitalised [27, 28]. General practitioners (GPs) face significant challenges in diagnosis as there is no single test to confirm (or rule out) heart failure. Instead, a combination of tests is recommended including an echocardiogram
(echos), physical examination and blood chemistry assessments [26, 29]. Around 25%– 35% of people with suspected but uncertain heart failure have heart failure [30, 31]. This means a significant number of people are being incorrectly diagnosed and are receiving suboptimal care, resulting in the inefficient use of scarce healthcare resources [32].
Echos are used to show how blood flows through the heart and heart valves and are used to confirm the diagnosis of heart failure [33]. Unfortunately, long wait times and the location of echo centres can also make accessing these services difficult, particularly for Aboriginal and Torres Strait Islander people and those living in rural areas [34, 35]. Given this potential delay, GPs often refer their patients to specialists (cardiologists) or the emergency department (ED) [29].
Despite efforts to improve quality of life and survival, heart failure has poor patient outcomes. Around 50% of people with heart failure die within 5 years of diagnosis, worse than many cancers [36]. Combined, heart failure and cardiomyopathy contributed to 15% of all deaths in Australia in 2021 [25].
As the population continues to age, the number of people living with heart failure is likely to increase, demanding additional resources for detection and treatment [36]. An estimated $2.68 billion per year is currently spent on the management of heart failure [36]. Improving the time to diagnosis and subsequent initiation of treatment, along with quickly ruling out heart failure in the primary care setting, will help reduce this huge financial cost and improve patient outcomes [37-41].
NT-proBNP is a fast and accessible test that allows GPs to accurately rule out heart failure [26, 42]. It consists of a blood test that measures the protein N-terminal pro-b-type natriuretic peptide (NT-proBNP), produced when the muscles of the heart are stretched [43]. The test is performed via laboratory analysis, which provides a result in 3 days. However, there is also a POC test that returns a result in only 12 minutes [44].
NT-proBNP is currently funded in public hospitals and used in the ED and, because of this, many public patients are referred to the ED by their GP. This avoids the longer wait time for an echo in the primary care setting and out of pocket costs for patients accessing it through their GP or specialist. The test therefore has potential for significant benefit in reducing the unnecessary use of echos and visits to ED if made available to GPs [26, 40]. The test is recommended by Australian heart failure guidelines and is both recommended and widely available in the primary care
setting in the UK [26, 45]. However, in Australia, access to NT-proBNP in the GP setting is not yet available despite the test being approved for use in Australia since at least 2003. [46].
Access to NT-proBNP in the GP setting can speed up the process of diagnosing or ruling out heart failure. Instead of referring patients with suspected or uncertain heart failure to the ED, a GP can carry out their own investigation to rule out the condition and shift their focus to more appropriate use of services and referrals [26]. A reduction in unnecessary echos for people who are found to not have heart failure, ED visits and subsequent hospitalisations from ED visits is expected to lead to a reduction in spending for the Government on these services, while reducing demand on the ED.
Patients with suspected or uncertain heart failure can also experience a positive impact. Not having to miss work for a visit to the ED and avoiding the out of pocket costs for unnecessary echos can result in significant cost savings. Family and friends, who often accompany patients to the hospital, will also benefit by not missing out on their potential earnings. In a workforce already facing shortages this takes a significant toll on businesses, the services they can provide and their ability to remain open. Moreover, this reduction in income loss can contribute to a boost in Government revenue through taxation.
NT-proBNP can improve time to diagnosis, leading to earlier treatment initiation. This could improve long term patient outcomes, reduce early death, and offer the broader population the advantages of a more efficient healthcare system [27, 28, 45]. Conservatively this extrapolation was excluded from the model.
Although difficult to quantify, a reduction in unnecessary investigations such as referral for echo also reduces CO2 emissions. This is important when considering the environmental impacts of healthcare [47].
At present value, if NT-proBNP had been made available in the GP setting one year post TGA registration in 2003, an estimated $5.9 BILLION in benefits would have been created in Australia over the past 20 years
Saved by the government on hospitalisation costs over the past 20 years due to a reduced need for subsequent hospital admissions.
Saved by the Government on ED admission costs over the past 20 years due to fewer admissions involving patients with suspected but uncertain heart failure.
In out-of-pocket costs saved by some patients over the past 20 years by reducing the need for unnecessary echos.
In income/savings for patients over the past 20 years with suspected or uncertain heart failure and their family/friends as they avoid missing work to go to the ED.
The Australian healthcare system has yet to fully recognise the broader value of tests, such as NT-proBNP.
Introducing NT-proBNP testing at the GP level benefits patients as well as their families. For many patients, particularly those living rurally or of older age, travelling to the ED or to an echo appointment can be challenging. Providing a diagnostic test in the community setting improves equity of access and allows more patients to be tested efficiently.
Broadening the diagnostic capabilities of GPs can lead to resource optimisation, as patients no longer need to visit the ED. This shift can alleviate pressure on an already overwhelmed hospital system. Moreover, some patients may no longer require an echo.
Direct and indirect costs can therefore be reduced, improving efficiency as time to diagnosis decreases, and, for some patients, heart failure is ruled out. This means GPs can carry out more appropriate lines of investigation in a timely manner, improving patient care, and ensuring guidelines for early diagnosis and treatment are met.
The intangible value of knowing through a faster time to diagnosis, not captured in this analysis, can reduce stress, enhancing mental wellbeing and fostering a patient centric approach to care. Such timely insights empower both patients and their healthcare professionals to make better- informed choices regarding subsequent examinations and treatments.
Comparable countries to Australia, such as the UK, have already acknowledged these manifold benefits and have made NT- proBNP available in the GP setting. If access to NT-proBNP is delayed further and the broader benefits are not recognised, it means a potential loss of approximately $300 million in value annually, a loss that impacts patients, their friends/families, and the Government.
Earlier detection of at risk populations allows for more targeted care, streamlining the finite resources of our healthcare system. Technology, such as NT- proBNP testing requested in GP settings, is a strong candidate for an accelerated access funding model, as described in this report. Approved through the TGA as safe and effective, and readily adopted and funded in similar jurisdictions, the provision of accelerated funding for this test in a setting closer to the needs of the patient and their front- line health professionals would allow for the full Value Fountain of this technology to be realised. This model ultimately relieves growing pressure on our medical system while still allowing for HTA processes to be undertaken. The relatively small cost outlay would greatly reduce the subsequent cost burden this report demonstrates when nothing is done throughout the long wait period between TGA registration and MBS listing.