Breaking the news that someone has cancer is one of the hardest responsibilities in medicine.
It is even more devastating when the diagnosis comes as a complete shock to someone who believed they were in good health.
Sadly, that is becoming increasingly familiar among my bowel cancer patients. Many are young, physically fit and balancing demanding jobs with raising children. Some have experienced little or no warning that anything was wrong.
“Why me?” they ask.
In many cases, there is still no straightforward answer. Scientists are working urgently to establish which aspects of modern life and the environment may be driving the rise in bowel tumours.
But my greatest frustration is that, for thousands of people, there is a known risk factor. Too often, they discover it only after the opportunity to prevent cancer has passed.
That is particularly heartbreaking because, for these patients, a straightforward daily tablet may help stop the disease from developing in the first place.
About 175,000 people in the UK are thought to have Lynch syndrome, an inherited DNA change that raises the lifetime risk of bowel cancer to between 30 and 80 per cent, depending on the gene involved.
James Van Der Beek, star of Dawson’s Creek, died from bowel cancer in February aged 48
Women with Lynch syndrome, which produces no symptoms of its own, also face a 40 to 60 per cent risk of womb cancer. These cancers commonly develop before the age of 50.
Yet only about 5 per cent of people who carry the syndrome are aware that they have it.
Bowel cancer specialists like me have spent years urging people to consider a simple genetic test. It can be arranged through a GP referral, with results often available within days.
For those who test positive, there is an inexpensive preventive option: aspirin.
Research indicates that taking aspirin every day for at least two years may reduce the risk of bowel cancer in people with Lynch syndrome by roughly half.
Around 2 million people in Britain already take the blood-thinning medicine, most often to lower the risk of clots and heart attacks in those considered vulnerable.
However, studies suggest aspirin may have another important effect in people with Lynch syndrome: it can block an enzyme linked to the growth of bowel tumours.
The medicine may also support the immune system’s ability to recognise and destroy cancerous cells.
A possible warning sign for Lynch syndrome is having an immediate relative—such as a parent, brother, sister or child—who developed bowel, womb, bladder, urinary tract or prostate cancer before the age of 50.
Anyone with a parent or sibling diagnosed with Lynch syndrome has a 50 per cent chance of inheriting the condition.
People diagnosed with cancer are often screened for Lynch syndrome, after which close relatives may be contacted and offered testing. But this does not happen consistently, leaving many families unaware of a serious and potentially preventable risk.
Sometimes a patient may have died before a test was performed, or the results not communicated to loved-ones.
In these cases, their relative may be eligible for a DNA test from a local specialist centre, as well as genetic counselling where doctors may recommend regular colonoscopies as well as a daily aspirin.
Unfortunately, it is somewhat of a postcode lottery; some local NHS bosses will fund Lynch syndrome tests in those with one affected relative, while others will require three.
It all means that too few people know that Lynch syndrome exists; and very small number get the crucial genetic testing.
There are private tests available, however, costing anywhere between £500 and £1500. Steer clear of the at-home tests – you need a specialist to take you through the results.
There’s another subset of patients who may also benefit from aspirin. But, frustratingly, whether or not they can access it is another postcode lottery.
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This problem concerns around a third of bowel cancer patients – those whose tumours have a genetic mutation called PIK3CA.
This quirk acts like a growth switch in cancer cells, telling them to multiply and survive.
Last September, Swedish researchers published the results of a major trial that showed taking a daily aspirin for three years could halve the risk of these cancers returning.
Dame Deborah James lived with the disease for five and a half years before her death aged 40
That’s a better result than some types of chemotherapy for earlier stages of the disease, which is offered to many patients.
It’s thought that the drug interferes with the genetic signals that fuel the growth of the tumour.
Tragically, the vast majority of NHS bowel cancer patients who are eligible will not be offered it.
The drugs watchdog, The National Institute for Health and Care Excellence (NICE) does not yet recommend it. In practice, barely any of my NHS patients can even access the test that reveals if they have a PIK3CA mutation.
Privately, however, it’s a different story. I saw this injustice play out in the treatment of two of my most recent patients.
One, Mark – a 36 year-old father-of-two – recently diagnosed with stage three bowel cancer (that spread to his lymph nodes), I saw in my NHS clinic.
He is sporty, slim and otherwise perfectly fit, and, having undergone surgery, was desperate to know everything he could do to stop the disease coming back – which happens in around a third of cases.
I had no choice but to tell him chemotherapy and exercise were the only interventions available. I wrote to his local genetic specialist clinic, asking if they’d test him, but my request was rejected.
Meanwhile, Jonathan, a 35-year-old, similarly fit patient who I see in my private clinic, was tested, and received a prescription for aspirin within a few weeks – no questions asked.
It’s important to flag that the side effects from aspirin can be serious – such as severe bleeding, bruising and gut pain.
This is why the genetic tests are so crucial. We should only offer the treatment to those who need it.
There is reason for hope. Colleagues tell me that, in a handful of areas, local NHS bodies are beginning to fund the PIK3CA test, such as areas of Cambridgeshire.
But the NHS has 7 genetic testing centres across the UK – called genomic laboratory hubs – all of which can easily tell patients in any part of the country if they’re a candidate for aspirin.
Aside from informing treatment, genetic details may also hold clues to the mystery of increasing young Britons being hit with bowel cancer.
Intriguingly, researchers have identified that patients under 50 are far more likely to harbour tumours with genetic changes like PIK3CA that develop over time – as opposed to being inherited.
This suggests that exposure to some sort of environmental trigger is causing cancerous changes in their DNA – perhaps early in childhood.
But exactly what these triggers are is yet to be confirmed.
Some convincing evidence suggests diets high in ultraprocessed food lead to ‘hidden’ visceral fat around our organs. This is said to interfere with the DNA in our digestive cells, driving cancer. Or, some say, poor diets trigger cancer-causing changes to the healthy bacteria in our guts.
Other studies meanwhile argue that the microscopic plastics we absorb in everday life – or even polluted air – could be to blame.
We won’t have solid answers for at least another few years.
In the meantime, I hope NHS bosses will grant all patients access to every test and treatment that could help.
With cases rising as they are, doctos like me are going to need as much help as we can get.