Making The Decision To Have Genetic Testing: BRCA 2

As some of you will know, my father had cancer a few years ago. At the time, it was thought to be secondary breast cancer as it was oestrogen receptive, and therefore would have been a terminal diagnosis. Thankfully, it was cancer of the sweat gland (so rare they wanted pictures!), and after treatment he has fully recovered.

Due to a family history of cancer, he underwent genetic testing for the BRCA genes. It is fairly common in a few ethnic minority groups, and we fall into that category. Up until that point, I hadn’t even thought about it. I knew that my Nana’s mum had died of breast cancer, and my aunt had also developed it (tho is in the clear thankfully). It hadn’t crossed my mind that it was genetic, and I had never really considered that possibility.

Both dad and his sister tested positive for the BRCA 2 gene, and this means that my siblings, cousins and I have a 50/50 chance of also carrying the same mutation.

This news carried a number of thoughts, feelings and emotions. The biggest initial reaction for me was fear. Cancer is not a light subject, and having seen my closest friend die of terminal cancer just a couple of years previously, it is particularly fresh in my mind. I was scared of knowing, of not knowing, of having the mutation and of not. I was for my siblings and cousins – I never want to see people suffer through anything like what Riya suffered with ever again. As it is a 1:2 chance, it is statistically unlikely that all 4 of my sibling group will test clear (though I would be ecstatic if that was the case), and that is a horrible thought to have. I know I would feel guilty if I test clear when another sibling does not, and probably upset if I have the gene and the rest don’t.

At the time I found out, I didn’t want to know. I didn’t want to learn of either result as it was easier to put it to the back of my mind. I haven’t really spoken to people about knowing we have a BRCA gene in our family. In general, I am used to keeping medical stuff back from the people around me. So it feels natural to do the same with this – however this is slightly different. This is something that I can choose to learn, or choose to ignore and hope for the best, but somewhere I know it will always be in the back of my mind.

As a family, we struggle to talk about this sort of thing. We have had fleeting conversations one  on one, but we are yet to sit around as a group and discuss what genetic testing means to us. It is a hard topic to bring up, and I often find myself keeping quiet – we are all independent adults with our own lives. As much as I feel that I would benefit from an open discussion, it may well be that the rest want to deal with it in their own ways and in their own time. This has made making a decision for me harder tho. Perhaps I would feel more comfortable doing this at the same time as my siblings rather then being the first to seek an answer.

As I have had time to think about the possibilities, I am beginning to look past my initial reaction. There are benefits to both decisions, and different outcomes after someone tests positive.

The benefit of finding out is a clear cut answer. Either you know that you are in the clear from the gene, and therefor have the same chance of having breast cancer as any other woman does, or you know that you have the gene. Having the BRCA 2 gene gives you a lifetime chance of breast cancer between 45%-85%, and a risk of ovarian cancer between 10%-30% (which increases from the mid 40s). This is a fairly substantial mark up from the average woman (which is about a breast cancer chance of 12.5%).

If you do find out that you have a BRCA gene, then there are options you can choose to take which will either mean cancer is more likely to be detected early, or that will reduce your risk substantially of developing breast cancer in the future. I have been looking into this in relation to breast cancer – so the below relates to this.

The first of these options would be choosing to have increased surveillance. Even if you don’t choose to be tested, this is something suggested to those with a known family history of breast cancer. This would include yearly breast screening from the age of 30 (in contrast to the 3 yearly screening from the age of 50), and keeping vigilant with monthly checking at home. It doesn’t cut the risk of development, but it would give a better chance of catching it early, thus a better chance of survival.

Another option for those with BRCA 2 is ‘chemoprevention’. This means that you would take drugs known to reduce the risk of developing breast cancer for 5 years, and this could potentially drop the risk of development for a number of years after treatment ends quite significantly. The downside to this is that these drugs can cause substantial effects, so you would need to weigh up the risks with your doctor to decide if this is a good option for you.

The last option, and the most drastic is to have an elective double mastectomy. This would mean choosing to have your breast tissue removed, and a reconstruction, either with your mastectomy or at a later date. The benefit of this your risk of developing breast cancer drops hugely – even below those with no gene present in their family. Obviously the downsides are primarily surrounding having surgery, and if your anything like me, the prospect of not having your own breasts anymore!

I can’t help feeling that I am too young to be dealing with this decision. I may be 28, but the potential effect of this decision has a far larger effect then I care to imagine. I am single, and I can’t help thinking that a positive result would create more problems in the dating scene then those that I already face as a chronically ill woman. This is also something that is an issue even if I choose not to find out. I’m not sure ‘Hey, I stand a 50/50 chance of having a breast cancer gene, fancy a date?’ is much of a turn on these days.

Having been reading and researching the above, I am slowly coming to the decision that for me, genetic testing seems like the obvious path. I don’t want to know that I have BRCA2, but if I do have it, it seems more sensible to find out and take action, however unpleasant that process might be. In this day and age, science has achieved some amazing things, and I feel someone obliged to take advantage when my great grandmother could not. I don’t want to be sitting here in 20 years time facing breast cancer, knowing that I could have done something to prevent it.

 

 

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