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Bladder Cancer – Early diagnosis and surveillance monitoring from urine sample

Your bladder is a hollow organ located in the pelvis that holds urine. Cancer of the bladder occurs when abnormal cells in the bladder lining grow and divide in an uncontrolled way. Over 12,000 people are diagnosed with bladder cancer in the UK every year, making it the 9th most common cancer, and more than 6,000 people lose their lives each year as a result. As with most cancers, early diagnosis is key for improved survival rates. More than 80% of people diagnosed at the earliest stage of bladder cancer survive at least 5 years, compared to less than 10% of those diagnosed at the latest stage.

Did you know about half of all bladder cancers are caused by smoking? It is thought that this is because chemicals in the smoke get into the bloodstream and are then filtered out of the blood by the kidneys, ending up in the urine. When the urine is stored in the bladder, these chemicals are in contact with the bladder lining and lead to an increased risk of abnormal cells developing which are known to cause bladder cancer.

Blood in the urine is called haematuria and is the most common symptom of bladder cancer – around 8 in 10 of those diagnosed have some blood in their urine. This may be visible or non-visible and may come and go. Other symptoms can include:

 

    • Passing urine very often (frequency)

    • Passing urine very suddenly (urgency)

    • Pain/burning when passing urine

    • Unexplained weight loss

    • Pain in your back, lower tummy or bones

    • Feeling tired and unwell.

Although likely to be caused by something other than cancer, it’s always important to get these symptoms checked out by your doctor.

Currently, people suffering with haematuria who are suspected of having bladder cancer are referred for a rather unpleasant procedure called a cystoscopy. Depending on your symptoms and risk factors, this may be through an urgent or non-urgent appointment. A cystoscopy is a procedure carried out in hospital that allows a doctor or nurse to look inside the bladder using a small camera, by inserting it through the urethra into the bladder. Only about 1 in 10 cystoscopies will result in a cancer diagnosis. Whilst not usually painful, it is an uncomfortable procedure that can cause discomfort for a few days afterwards and exacerbate haematuria. Long NHS wait times also mean that patients are often left experiencing symptoms and waiting for investigation longer than advised, slowing the process of a cancer diagnosis and, ultimately, treatment.

Current and New Proposed Patient Management Pathway

The new and revolutionary GALEASTM Bladder Cancer Test detects bladder cancer using genetic markers from a simple urine sample, which can be collected painlessly in the comfort of your own home. The urine sample is posted to the laboratory for analysis, and results are sent directly back to you. Using ultra-sensitive targeted next-generation sequencing technology, this innovative molecular test looks for 451 genetic mutations associated with 96% of both non-muscle-invasive and muscle-invasive bladder cancers at all stages and grades. Mutations in these genes that are associated with bladder cancer are somatic mutations, meaning they are not inherited at birth but rather develop over time. The 23 genes that are looked at in this test are listed below:

Table 1. Gene list included in the GALEASTM Bladder cancer test

AKT1 ERBB2 NRAS
BRAF ERBB3 PIK3CA
C3orf70 ERCC2 RHOB
CDKN1A FBXW7 RXRA
CDKN2A FGFR3 SF3B1
CREBBP HRAS TERT (promoter)
CTNNB1 KDM6A TP53
ELF3 KRAS  

The diagnostic accuracy of the test is greater than 85% specificity and over 90% sensitivity, rivalling the specificity and sensitivity of a cystoscopy. It can speed up the process of diagnosing bladder cancer or spare the discomfort of undergoing an unnecessary cystoscopy in the 90% of patients who have haematuria but do not have bladder cancer. A home test vs an uncomfortable in hospital procedure has clear advantages to us all.

For those who have already had a diagnosis of bladder cancer this test is also able to assist with patient monitoring, relapse, and minimal residual disease (MRD) surveillance.

Unlike many other genetic tests available this new test has been approved for use by the NHS, but this is taking time to roll out and for many individuals this could be too late. If you have a Medical Insurance Policy with BUPA and have been diagnosed with visible or non-visible blood in the urine this test is now covered by the policy.

Besides the GALEASTM Bladder Cancer Test, this so-called ‘liquid biopsy’ technology has shown great promise in other areas of science. Researchers have shown that it is possible to use the same mutation panel and platform to identify circulating tumour DNA. The future of DNA technology in cancer diagnosis is incredibly exciting, and the Forensic Genomics Innovation Hub is proud to be at the forefront offering such cutting-edge clinically validated, such tests as the GALEASTM Bladder Cancer Test. 

To order this new revolutionary test click here.

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