Thursday, October 22, 2009

to test or not to test

When faced with a family history of known brca mutation or suspicion of a mutation, some people struggle with the decision to test or not to test for it. Maybe because of fear of discrimination from insurance companies, maybe they are afraid and would rather not know, maybe their insurance won't cover it or maybe they are in denial. For whatever reason, not everyone chooses to be tested.

For me, testing was the easiest decision I've faced so far. I didn't know what brca was, but as tod described it I assumed I had it. I wasn't concerned with possible discrimination from insurance since I already face that with mutant 1. My dw called the insurance company right from the doc's office to make sure I was covered as it costs over $3000. They said I would be covered as long as my history showed the need. I tested because my doc thought it was important not only in my surgery options and my own health, but that it was something that should be done for my family. The whole testing thing is tricky and should be done in the right order for it to mean anything. It is best to start testing with someone that already had cancer if possible. This way you can avoid false negatives. Some families have an even tougher time because they may have huge family history of breast and ovarian cancer but test negative probably because not all the gene mutations have been discovered yet. But our family is lucky:) Our gene is identified. We have brca2 mutation 8765delAG, resulting in premature truncation of the brca2 protein at amino acid position 2867. What this means is that now my relatives can test for a lot less money, about $300-400, since they only need a single site analysis rather than comprehensive. It also means that if they test negative they can feel assured that it is a true negative.

What are the advantages to testing? Well, number one would be that hopefully you test negative and I can cross you off of relatives I am worrying about! So please, if you do test and it comes back negative, I would really love to hear this! Seriously, though: if you test negative, you will not need to do any extra surveillance at the docs. You will fall into the normal population risks of bc and oc and pc and melanoma and can relax and breathe easier. You can also cross off the need for your children to be tested as you cannot have passed it to them. Yeah, more people to cross off my list!!! Well, what if you test positive? Yes, it does happen and I will shed some tears. I am heartbroken that wondertwin is in my shoes, but she is wearing them better than me. Always seems to be ok and calling me to give me support. Guess she really is my big sis even if by only two minutes. Yes, if you test positive it is sucky but maybe this will extend years to your life, and that is not a bad thing at all.

Disadvantages of testing? Now your insurance company has this on your records. Well, if it is negative, that might actually help you when you are trying to get insurance since you can tell them the rest of your sucky family history will not apply to you! If you are positive, you aren't supposed to be discriminated by private ins at this time, but they may make it unaffordable. Honestly, though how many of us can afford private ins in the first place? Things that you might want to do before testing are try and get some supplemental insurance like aflac and try and get some life ins. And maybe upgrade your health ins to a better plan. I know this is about the time of year where you can choose a new plan through your company ins plan. I am lucky to have picked the upgrade last year to cover 100% in network rather than the 90%. Doesn't sound like much but I can tell you I have saved thousands. Of course, I may have difficulty going to an out of network surgeon so that is something to consider. Sometimes you can get them to allow it but it is a pain in the ass.

So how do you go about testing? I would suggest seeing a genetics counselor first to talk it over. I can use my resources to help you find one or you can use the link for FORCE (facing our risk of cancer empowered) on the left. They have info on their website. Of course, you could also get tested at your doc's office if that is what you prefer.


  1. Look at you, all helping other people from your own experiences! That's awesome Janine, and just one of the benefits of blogging. It helps you to realize that you are not alone, and you even have the ability to help others in your position - so that they don't have to struggle as much as you have. Feels good, doesn't it? :)


  2. Hi, Sissie. Of course I'm not always okay (just ask my counselor), but I have a lot of experience with trauma, and also I have a wonderful wondertwin who has done so much research and talking about BRCA that it makes it easier for me... And also I can try to forget about me sometimes because I worry about you:)
    Love you. Wondertwin