Genetic testing – what to expect

I developed colon cancer at a relatively early age. I was 49 when it was diagnosed but my cancer was at least 10 years old when they found it, so it had been lying there undiscovered since I was in my late 30s.

Colon cancer is not seen as a disease of younger people, with the average age at diagnosis 69 and more than 40% of cases diagnosed in the over 75s.

Younger bowel cancer patients suffer from delays in diagnosis – sometimes because they don’t go to see their GP quickly enough, and sometimes because the GP doesn’t make the connection that this could be the cause (because they still see colon cancer as being a cancer of older people) and will try and rule out or even misdiagnose it as a whole host of other things first.

The clinical evidence indicates that although we’re doing better in some aspects of colon cancer we’re beginning screening too late (see Bring down the age of colorectal cancer screening in the UK) and we need to increase awareness in younger age groups. Sadly, the number of cases in younger patients is increasing, just as we’re managing to decrease the number of cases in older patients – largely due to those improved screening programmes.

It has been mooted by scientists that the causes of colon cancer in the under 50s might be different to that in older patients. It’s far more likely to be genetic, for example. And if you’re diagnosed at an earlier age, you’re likely to be sent for a genetic test.

This was how I found myself sitting in the hospital, wondering what on earth was going to happen. I met a very cheerful lady from the genetic testing centre in Sheffield who had come to my local hospital to test me. She was incredibly skilled at explaining things in an easy-to-understand language and putting you at your ease. Even so, genetic testing is an unexpected cause of anxiety for many – including me.

Firstly, it’s uncomfortable to have to go through your family tree and explain the cause and age of death of your loved ones. Secondly, there’s the fear, if you have children, that you may have inadvertently passed on a ‘dodgy’ gene. And thirdly there may also be fear of the process itself – though if the lovely Sheffield lady is anything to go by, there has been a lot of effort put into training staff and no reason to be afraid.

So what happens exactly? Well you turn up in a random place – could be your GP’s surgery, a main hospital or a clinic at a local hospital. In my case I was asked to wait in the blood clinic – the place where they take blood samples. A lady called me into a side room, which is a cause of anxiety for me because it has bad memories from when I did have cancer. (Note to self: side rooms don’t automatically mean bad news.) The nice lady chatted to me and explained what they were going to look for, how long the testing would take and what would happen next if it came back positive. She then took a family history from me and the final step was a blood test. (Really quick, painless – she does this a lot!)

I found that going through the family history was surprisingly upsetting, but the rest of the process was routine and straightforward. The lady was able to answer all of my questions and I felt pretty comfortable when I left.

And then you wait. And you have to wait for some considerable time – weeks if not months. And if, like me, you’re not good at waiting, this can be the worst part of the process.

One day you’ll get a phone call. And, as with any medical results, that call can provoke a certain level of anxiety. A positive genetic test means my cancer is more likely to recur and it means there’s a risk I may have passed on that ‘dodgy’ gene to my children. But remember: what’s important with colorectal cancer is to get it early. If you do have the gene then you need to know so that your children can be screened. If they’ve inherited it then it simply means they will be offered screening tests younger and doctors will be alerted to the fact that if they present with symptoms that colon cancer is a possible cause. This is all about prevention!

In the end my test was negative, as will most people’s be. That means I will never know the cause of my cancer. I don’t have the usual risk factors, am relatively young and don’t have the gene. It means I have to come to terms with not knowing the reason why. But the good news is that my children aren’t at risk.

For those that do find there’s a genetic problem, there’s no need to panic. It just means that doctors are going to keep a closer eye on you, and upon any relatives that have the same gene. It does mean more testing, and it does give a level of worry – you now know there is a chance of recurrence – but you should really be reassured. It’s far better to know and be monitored so that they catch that polyp early, than it is to find out you’re stage 4 and have few options.

Try not to worry if you’re offered genetic screening. It just a small blood test. Be emotionally prepared. But, more than anything, be practical. This is about helping you and your loved ones not get ill in the future.

With thanks to Justin Lim on Unsplash for the featured image.

 

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