A simple urine test may be able to detect bladder cancer years before any symptoms show up due to genetic red flags, according to a new study.
Using only urine samples, an international team were able to predict the most common type of bladder cancer up to 12 years before diagnosis by searching for specific genetic mutations.
The study’s findings, presented Friday at the European Association of Urology’s annual congress in Milan, could revolutionize the way we diagnose bladder cancer, researchers say.
“Diagnosis of bladder cancer relies on expensive and invasive procedures such as cystoscopy, which involves inserting a camera into the bladder,” Dr. Florence Le Calvez-Kelm, a scientist with the International Agency for Research on Cancer and one of the authors behind the study, explained in a press release.
“Having a simpler urine test that could accurately diagnose and even predict the likelihood of cancer years in advance could help to spot more cancers at an early stage and avoid unnecessary cystoscopies in healthy patients.”
Bladder cancer is one of the most common cancers. According to the Canadian Cancer Society’s 2022 estimates, around 13,300 Canadians are diagnosed with bladder cancer in a year, and around 2,500 die due to it.
It also can have subtle or delayed symptoms, or even no symptoms for years. The most common symptom is blood in the urine.
For this new study, researchers started with a urine test called the UroAmp test, which was developed by Convergent Genomics, the spinoff company of Oregon Health Science University. It is able to identify mutations in 60 genes.
By combing through previous research which looked at which genetic mutations were often present in those with bladder cancer, researchers were able to hone in on mutations in just ten genes as the most important ones to search for.
In order to test if their newly specific urine test was actually able to predict cancer or not, researchers utilized samples from the Golestan Cohort Study, a population study run by the Tehran University of Medical Sciences, which has tracked the health of around 50,000 adults for more than a decade.
Participants were recruited for the cohort between 2004 and 2008, and gave a urine sample as part of their baseline assessment, before returning for annual follow-ups in order to track their health over time.
In this new study, researchers ran these urine samples through their urine test and then looked at the follow-up data to see if any participants had developed bladder cancer later in life.
Forty participants had developed bladder cancer at some point since enrolling in the cohort, and researchers were able to test the urine samples of 29 of them.
Out of these 29 participants, the test was able to predict future bladder cancer in 19 of them, which is 66 per cent.
Out of the 10 people who did develop bladder cancer, but tested negative on the urine test, none were diagnosed earlier than six years after they gave the urine sample.
Researchers also tested the urine of 98 people who never developed bladder cancer in order to see how the test assessed someone who was not going to develop cancer in the next decade. The test was accurately negative for 94 of these participants, giving it a 96 per cent accuracy in this section of the test.
Researchers also tested the new urine test with samples from 70 bladder cancer patients and 96 control patients without bladder cancer, sourced from Massachusetts General Hospital and Ohio State University.
These samples, unlike the earlier ones, were collected shortly before patients were diagnosed with cancer, some on the same day they would receive that diagnosis.
The specific mutations which researchers had identified as signifiers of bladder cancer were not found in 90 out of the 96 control patients, but were found in urine samples from 50 of the 70 patients with bladder cancer.
“We’ve clearly identified which are the most important acquired genetic mutations that can significantly increase the risk of cancer developing within ten years,” Le Calvez-Kelm said. “Our results were consistent across two very different groups – those with known risk factors undergoing cystoscopy and individuals who were assumed to be healthy.
“Should the results be replicated in larger cohorts, urine tests for these mutations could enable routine screening for high-risk groups, such as smokers or those exposed to known bladder carcinogens through their work.
The test doesn’t provide complete accuracy yet, but to see such promising results with a test that is so simple and non-invasive is hugely promising for the future landscape of bladder cancer diagnosis, researchers say.
“A simple urine test would be far easier for patients to undergo than invasive procedures or scans, as well as being less costly for health services,” Dr. Joost Boormans, a urologist at the Erasmus University Medical Center Rotterdam, said in the release.