Genetic Testing

Making the choice to have genetic testing: easy
The effect of choosing to have genetic testing for other people: a lot more difficult

At the end of last year I finally had an appointment with a genetic consultant to discuss the likelihood that I carry either a faulty BRCA1 or BRCA2 gene. A mutation in one of these genes would make me much more likely to develop breast as well as ovarian cancer. And the results could have quite an impact - not only on me, but also my extended family.

A couple of months before the appointment I was asked to complete a detailed family history listing anyone in my extended family who'd ever had cancer. Going back through my family tree showed the only people who'd had ovarian cancer were very distant relations, and none of them developed it at an early age, unlike me. So I felt fairly confident the consultant would say there wasn't a very high risk I carry a faulty gene, and leave it at that. (Apparently they don't go any further with genetic testing than an initial chat unless there's a strong indicator that you're likely to have a genetic mutation.) But to my surprise he seemed to think that because I was only 25 years when I was diagnosed, there was a good chance a faulty gene could be the reason.

He offered to carry out the blood tests then and there so they could start the DNA sequencing process to check for changes to the BRCA1 and BRCA2 genes. He asked if I wanted more time to think about it first, but it seemed such an easy decision. After all, surely it's much better to know if your health is at risk than to bury your head in the sand and carry on thinking things are fine? That's how it seemed to me when he asked anyway.

I want to know if I'm more likely to develop breast cancer because then I can have regular check ups and monitoring. (I obviously know I'm more likely to have ovarian cancer!) And I can also think about whether it's worth having my breasts removed to reduce that risk and make it more likely I'm going to be here for a long time to come. Which, after all, is what's really important - I want to be around for many years to come to see Molly, and my soon-to-be-born second child, grow up.

But the results of the testing have a much wider impact. A positive result would affect all the women in my extended family - Mum, aunts, cousins. And not all of those people want to know whether they're at risk. Some would rather live in ignorance and not have the shadow of cancer cast over them. And I can completely understand that - who wants to think they could develop cancer at any time? But I have to be selfish and think about my life and how to make sure I do everything I can to keep myself healthy. And that means going ahead with the genetic testing. I feel awful that it's causing others worry and anxiety but I have to protect myself and my children, and testing seems like the best way to do that.

So I agreed to have the testing while I was there, and had what seemed like endless tubes of blood taken ready to be sent off to the lab. It will take a couple of months for the results to come back, so I'm not expecting to hear anything until February or March. And I'll only have another appointment with the consultant if the testing does show something.

Of course, it's still far more likely that getting ovarian cancer was just one of those things. And at the moment I still think that's probably what it was - something in my body just went a bit wrong and I developed cancer. After all, that's what happens for the majority of people. Having a genetic predisposition is actually much less common. So I'm trying not to think or worry about it too much now. And anyway, I can't change the results so worrying would be pretty pointless. Besides, I've got far more important things to concentrate on. The baby is due on 29th January, so I've not got long to go now. Soon I'll be a mum to two gorgeous children - I can't wait!

Em