I was dx last jan and am now going through genetic testing. They have told me results will take 7 months. I met with a genetic doc and we went all through family history etc etc.
My cousin has never had cancer but has told me her GP gave her a blood test and a few weeks later was told she carries the cancer gene.
I think somewhere along the lines she has got confused about this. I remember soon after dx my GP gave me a blood test to see if there was any abnormal cancer related activity going on in my ovaries. I’m thinking this is the kind of blood test my cousin has had.
I asked her what happens now but she just said they would give her regular blood tests. Surely if she does carry the breast cancer gene she would be offered a mastectomy and ovary removal.
I really am confused as to what test she has had. Because surely if it were that simple. Every woman in the world could go to their GP’s, have a blood test and then have the option of preventative surgery which in turn would saves thousands of lives.
Just wondered if you could shed some light on this for me,
I have the BRCA1 gene. The way it happened with me/our family is that when I was at school my mum had BC and her sisters all had it as well. She was referred to the Nightingale Centre for a blood test to see if they could find anything with all four of them getting it and one eventually dying with it. Anyway we never heard anything and then 2 years ago she developed it in her remaining breast and had another mastectomy. Just after that she was called back to the genetics clinic to be told that she had the BRCA1 gene and that we should be told and get tested if we wanted to. It took them just over 20 years!!! to tell my mum she had the gene. I am now 38 and have had a hysterectomy and am due to have preventative surgery (hopefully!) in August. It doesn’t usually take this long for the results, I think they just forgot about my mum!!
I can understand your confusion! Firstly it wouldn’t be possible to test your cousin for a BRCA gene unless she had had bc or if another relative had already been tested and found to have a mutation. The reason is genetics need to know what they are looking for, I was told it can be likened to ‘looking for a spelling mistake in a dictionary’. Secondly a GP will refer a patient to genetics for counselling and testing, not undertake it themselves. I was tested for a BRCA mutation and it took 17 months to get the results I had a mutation on the BRCA 2 gene. My siblings under went testing but their results only took 4 weeks, this is because genetics knew what they were looking for. It could be that your cousin has had the CA125 blood test, this is entirely different and nothing to do with genes and mutations, this is basically to detect the presence of tumour cells for ovarian cancer. If your cousin is insistent that she has been tested and found to have a BRCA mutation then I would ask her for a copy of her results so you can pass this on to your genetics team, though I must add I find it highly unlikely! Genetics isn’t simple or straight forward, oh wouldn’t it be wonderful if we could all walk into our GP’s surgery and ask for testing then get the results back a few weeks later!!
Genetic testing for BRCA-1 &2 took 4 - 6 weeks. I live in the US and I considered that period a long time! I can’t imagine waiting for it any longer.
Interesting fact: I did the testing 2 years ago and tested negative. Last month when I went for my annual breast MRI my genetic counselor told me that there is a newer version of the genetic test available. The original test I took was only about 95% accurate with a 5% grey area. This new test is more accurate. I opted to take it even though insurance doesn’t cover it yet. And to the astonishment of my genetic counselor I tested positive. I am not considered to have a strong family history although my sister was diagnosed with BC at age 26 and died at age 29. Only BC case in family. She never had the test done because she lived in Germany and it was not standard procedure to do testing on BC patients as it is here in the US. It is still fair to assume that she had the mutation as well.
I have since discussed this with my GP and she has basically told me everything that Helen has said. She also seems to think that my cousin is confused and has been tested for the CA125 and could not have possibly been tested for the BRCA 1/2/3 gene.
I don’t really know how to approach the situation with my cousin or if I should just leave it. I was dx at 28 last year and there is such a strong family history that I feel she should be properly genectically tested too. She is about 35 years old and I would feel awful if anything happened that could be avoided. A lot of confusion has lead her to believe that she carries the faulty gene when in fact she hasn’t even been tested for it.
Think it would be worthwhile discussing this again with your cousin. It’s a complex issue, and one which she clearly doesn’t understand. I’m BRCA2 positive, and had a similair misunderstanding with one of my cousins. She did take the test, and is negative. But whenever she phones, she’ll say things like, “but I might get it one day!!”
But, I think you could feasibly talk to your cousin again. Ask her if she would like you to ask about an appointment for her at the genetic clinic, and explain clearly to her that she has categorically not been tested for the gene. I think you might have to be quite blunt about it, but it’s in her best interest for her to know and understand the situation.My geentic clinic gave me a letter which I could send on to all family members, explaining a bit about it, and what can be done. This was a great help, and although in the first instance I phoned most of my cousins, there were a few whom I hadn’t seen for a while, and so I wrote to them including the letter from the clinic. If your clinic could give you something similair, then it may help bring the message home to her.
Good luck-hope it all goes well for you.
I’m a bit late with this and it sounds like you’re clearer now - but just to say I went for gene counselling today and have given blood for the test. She said it takes up to 6 months and that this is due both to it being complex but also because the NHS is inevitably slower. If I wanted it done privately it would be quicker but expensive.
I have waited just over a year - was told it could take between 6 months to a year depending on how easy (or not!) to find the genes.
I was referred for genetic testing 7 years ago but was told then that it wasn’t that effective and even if I got a negative result it might not mean it was negative so it just shows you how things have improved in that 7 years.
I had the test done in June last year and have my appointment with the geneticist in September for the results.
I saw the geneticist last friday and she said 6months+ too, longest it’s taken was 5 years she said so no promises, but on the plus side she did say that they are much more confident with negative results now and while they can never be 100% certain the genes aren’t there if they don’t find the gene they are mostly, eg 99% certain you don’t have it if they don’t find it which is great news, but they are also looking at other genes now too and may even go back and have another look in the future when they know more about the new ones.