Referral to a haematologist takes 2+ months for 13% of blood cancer patients
A timely and accurate blood cancer diagnosis is critical to clinical best practice and the State of the Nation – Blood Cancers in Australia Report 2023 revealed most people with blood cancer were immediately referred to a haematologist.
However, according to the report, based on a survey of 4600 people, 25% of them were referred to two or more specialists before being referred to a haematologist – the specialist they needed. And around 13% of blood cancer patients reported that it took them more than two months from their first GP appointment, to obtaining a referral to a specialist.
Due to remarkable new and ongoing advances in genomics, targeted therapies, immunotherapies, and other technologies, the prospect of there being no lives lost to blood cancer by 2035 is becoming more real every day.
This is based on equitable and timely access to accurate diagnostics and novel therapies. And as the complexity of blood cancers is better understood, so are the tools used to diagnose and treat the 19,400 people diagnosed with blood cancer each year, and the ongoing care of 135,000 Australians living with these diseases.
There are more than 120 different types and subtypes of blood cancer including more than 40 unique sub-types of leukaemia, more than 50 unique sub-types of lymphoma, and increasing recognition of a range of myelodysplastic neoplasms (MDN) (formerly known as myelodysplastic syndromes/MDS) and myeloproliferative neoplasms (MPN). The number of identified blood cancer subtypes is increasing as understanding of the genetic basis of blood cancer improves.
Diagnosis requires a range of tests
When somebody first presents with blood cancer, it is generally within a primary care setting, and they usually visit their general practitioner (GP) with symptoms such as fatigue, bruising or pain, that could be associated with a range of possible conditions.
The GP may order a full blood examination and, if the pathology test results indicate a form of blood cancer, the GP refers their patient to a specialist (haematologist/oncologist) for further tests to confirm the diagnosis.
Traditionally, tests ordered by a specialist to confirm a blood cancer diagnosis have included a physical examination and blood tests, imaging including X-ray, computed tomography (CT) scan and positron emission tomography (PET) scan, bone marrow aspiration, and lymph node biopsy.
Alongside these tests, cytogenetic and molecular genomic testing increasingly are being used to provide a more accurate diagnosis by sub-type. This additional genomic information about an individual’s cancer can help to inform prognosis and treatment planning. Since 2006, the volume of cytogenetic and molecular testing has increased exponentially, which reflects the value of these tests.
Other novel diagnostics are in development and offer further potential to inform patient prognosis and treatment planning and the selection of targeted therapies. These include next generation sequencing which effectively captures a large amount of genomic information about a cancer, and minimal residual disease testing, which looks for very low levels of blood cancer using highly sensitive methods of testing.
The World Health Organisation’s classification of tumours of haematopoietic and lymphoid tissues, which is used to guide diagnosis, prognosis, and the selection of appropriate therapies, is predicated on integrating morphologic (cytology and histology), immunophenotypic, molecular, and cytogenetic data. These diagnostic tools have become standards of care in comprehensive cancer centres globally. In Australia, specific challenges exist around the delivery of diagnostic services for blood cancers that are defined as minimum standard of care by blood cancer guidelines, including genomic testing.
In alignment with global consensus, Australia’s first National Strategic Action Plan for Blood Cancer (NAP) called for precision medicine (with genomic testing, as required) to become the standard of care. Members of the Australian blood cancer community reaffirmed the need for genomics to become the standard of care.
Despite its importance, analysis of responses to the 2022 Survey of People Living with Blood Cancer* highlights that few patients in Australia currently undergo genomic testing.
Only one in five patients (21%) who completed the survey knew if a genomic test was used to confirm their diagnosis and 43% of them did not know whether a genomic test was used to confirm their diagnosis. Of those who underwent a genomic test, 31% said that the genomic test result had changed their diagnosis and treatment plan. This is the first time this survey data has been captured.
Revision rates in genomic testing can be high, particularly at non-academic treatment centres and timeliness remains a significant concern for patients and clinicians. For example, the median reporting time for fluorescence in situ hybridisation (FISH) testing has been reported to be nine calendar days, but the range for reporting time for cancer patients was reported to be anywhere from 1-56 calendar days. Members of the blood cancer community indicated that this may be a conservative estimate, with FISH testing for myeloma reported to routinely require up to six months.
Many novel diagnostics remain unfunded and inconsistently used even though they are the standard of care across blood cancer. The main gaps include fluorescence in situ hybridisation (FISH) tests and molecular tests to identify biomarkers of clinical significance. For blood cancer patients these diagnostics are the standard of care and should be funded through the Medicare Benefits Schedule (MBS).
To realise best practice in Australia, and the NAP’s ‘zero lives lost to blood cancer by 2035’ vision, addressing funding gaps and service delivery challenges in diagnostics is a high priority.
The following comments by participants in the latest Survey of People Living with Blood Cancer, highlight the importance of genomic testing and precision medicine becoming standard of care.
“Genomic testing is critical. There’s no comprehensive coordinated testing process, which needs to be addressed as it underpins everything we do. And accurate diagnosis is absolutely necessary for provision of best quality care.”
“The complexity of blood cancers needs to be clearly understood. We know they’re complex – and are only becoming increasingly so as we continue to know more (more subtypes are being discovered). This really speaks to the need for precision medicine and genomic testing.”
Delays in diagnosis
Inconsistencies in Australia’s healthcare system have a direct impact on people with blood cancer and national standards are essential to ensure people are diagnosed quickly and have equal access to skilled healthcare professionals who deliver best practice care.
Blood cancers are rare diseases that are difficult to diagnose and cannot be prevented. They are spontaneous and cannot be detected through population screening programs (like many other major cancers). Almost 40% of people with a blood cancer have a lot of questions or feel completely uncertain about their diagnosis, and many people with blood cancer believe their GP didn’t have enough of an understanding of blood cancer.
Among the most commonly identified issues for patients, leading to delays in diagnosis, is a poor understanding and recognition of blood cancers by many GPs. The lack of GP understanding of blood cancers reportedly can lead to inefficiencies in health service delivery, from misdiagnosis, referrals to the wrong specialist, and delays in appropriate treatment.
The Leukaemia Foundation has worked with the Royal Australian College of General Practitioners (RACGP) to improve awareness and understanding of blood cancers, and the RACGP has promoted and endorsed the National Action Plan among GPs.
Cancer Australia is planning additional GP education around the signs and symptoms of cancer, which will be delivered using the Optimal Care Pathways (OCPs) as the core building blocks. OCPs are trusted guides that describe what optimal care for a type of cancer should look like, setting out a national standard of high-quality cancer care that all Australians should expect and that puts the patient at the centre of care decisions. OCPs cover every step from prevention and early detection through to living with a chronic disease, or end-of-life care.
Often patients are not aware of the signs and symptoms of blood cancer and are not adequately empowered to request testing when they observe symptoms. Patients need to be empowered to more effectively engage with GPs, which includes supporting GPs to better recognise the signs and symptoms so that red flags are more readily identified by both patients and GPs.
The following are patient perspectives from the Survey of People Living with Blood Cancer on the awareness of signs and symptoms of blood cancers:
“I had been to many GP appointments (3-4 different GPs), they all failed. Young people – and especially women – often feel dismissed. GPs often dismiss symptoms suggesting it’s okay and that there are other causes, and are often hesitant to over-test. My GP just kept telling me that it was probably just hormones, and I was, at the time, hesitant to push back. However, there were red flags – I had every symptom in the book, but they were all being treated as individual issues to be dealt with.”
“In hindsight, he had bruises that were unexplained. However, at the time we assumed he was picking them up at day care. I should have trusted my intuition [mothers’ intuition]. I knew something wasn’t right but hadn’t spoken out at appointments. Having a sick child – dealing with the healthcare system – is about learning to speak up to the experts. You really need to be on the ball.”
Poor awareness of the signs and symptoms of blood cancer by GPs and the wider community has contributed to delays in the diagnosis and detection of blood cancers. The 2022 People Living with Blood Cancer survey identified that more than a third of people who were diagnosed with blood cancer between 2018 and 2022 waited more than a month to see a haematologist.
The following are samples of perspectives on delayed diagnosis by survey respondents and consultation with blood cancer stakeholders.
“My cancer was dismissed by two separate senior GPs. The third GP I saw (a junior Dr) was the first one to do a physical examination and noticed my enlarged lymph nodes immediately. Without his thorough care who knows how long my diagnosis would have been delayed.”
“I had high platelets for at least 7 years and no one picked it up before the GP that did.”
Other factors that affect a timely diagnosis
Difficulties also can arise depending on where a person lives (roughly 59% of people diagnosed with blood cancer live in a metropolitan area and 41% live in a regional or remote area) and whether they can afford to pay for tests and treatments. First Nations peoples, those of culturally and linguistically diverse backgrounds, and regional and remote patients also can face additional challenges due to location, language, and cultural factors.
A national, integrated Consumer Navigation Service would improve the availability of disease information to patients and carers and improve the referral of patients to consumer navigation support from diagnosis.
Other actions that could be considered to improve the timely diagnosis and referral of blood cancer patients are improved decision support tools for GPs, making decision pathways easier for GPs to decipher, and development of the blood cancer workforce.
Early detection of cancer is part of the first key strategic objective of Cancer Australia’s Australian Cancer Plan, and addressing funding gaps and service delivery challenges in diagnostics is a high priority in realising best practice and the Leukaemia Foundation’s commitment to zero lives lost to blood cancer by 2035.
*More than 4600 people living with blood cancer participated in this consumer survey which helped inform the latest State of the Nation: Blood Cancers in Australia Report 2023.