BRCA testing

HI, I had a TNBC diagnosed in April, after my surgery I was offered a genetics test. I had the test in July, I had the results back end of August saying I had a RAD51D faulty gene. In September I had a consultation with the genetics consultant to discuss the results. In November I had a consultation with the gynocology oncologist and am now scheduled for ovary and fallopian tube remove on friday (dec 15th) as I am high risk of OC.  I have another Breast Clinic consultation in January. I would say I have been dealt with in a very timely manner by the Bath Royal United Hospital . I was specially offered the genetics test because of my tumor being TNBC. It seems to me that things must vary from area to area.  The RUH in Bath have been amazing.  

Thanks for your response, I’m pleased that you have been seen so quickly by all the different departments. My treatment for each of the cancers has been excellent, always very quick and with great staff at all levels. It was just the testing that appears to have been the issue. I have an appointment tomorrow with the consultant, so hope he can explain to me then why the test wasn’t offered back in 2009. 

Oh, and all the best for Friday, I hope it goes well and you recover quickly 

Thank you, am expecting lots of hot flushes afterwards. Glad you have received excellent care, it's sounds like you have had a tough time of it x 

Hi MTT , I think the whole genetic testing issue is a bit of a postcode lottery. When I was initially diagnosed 5 years ago with hormone positive breast cancer I asked about genetic testing as my mother and her aunt died from breast cancer, and my father from prostate cancer. I was told that as I had hormone positive cancer (as had my mum), that there wouldn’t be a genetic link. Yet 2 friends whom I met through a maggies centre and had also had my type, were automatically tested - they were in a different health trust to me. Over a year ago I asked again about genetic testing at my annual follow up and my surgeon agreed to refer me although he wasn’t sure I met the criteria. Months later I got tested and it turns out I have a pathogenic ATM gene, which carries a raised risk of breast cancer and is likely why I got it, apparently. I was negative for the others. Although it’s annoying that I had to push for the tests, ironically if I’d had them 5 years ago they might not have looked for my particular gene as it’s a relatively recent discovery. Like you I feel that my treatment was generally very good, but that the issue of testing is not consistent. 
Good luck with your appointment tomorrow xx

Hi, thanks for your response. I asked the question about why I was not tested back in 2009 and was told I didn’t meet the criteria then. To get a genetic test you had to be under 40 with a triple negative cancer and a family history. I was 48 and, as I was adopted, I had no idea about any family history. I was pleased to hear that if I was to present now, with the same scenario, I would get a test as the criteria has changed to triple negative BC under the age of 60, though I think not knowing my family history would still put me at a disadvantage.

I have decided to have a second mastectomy, as my ongoing risk for further BC is high, so that should happen in the new year.

I hope that genetic testing is offered more often and earlier in the future as it will save a lot of fear and upset as well as the need for harsh treatments, while also saving the nhs money in the longer term.

i hope you are well now and that you stay well

MTT xx

Thank you MTT , so far so good. I’m staying on Anastrozole beyond the usual 5 years as there’s research showing benefits from a further 2 years. After that the risks will outweigh the advantages as I already have osteopenia and it can thin the bones. I’m also having one more annual mammogram next summer which will hopefully be reassuring. But after that, if all is well, I’ll go back to the 3 yearly screening. A bit scary but will just have to be vigilant. 
I am sure that, in your situation, I would also have opted for a second mastectomy too. Glad it’s being sorted for the new year. HFxxx

I couldn’t get tested for BRCA, despite the strong family history of breast cancer in the family, because I have two surviving aunts who could have the testing. One is waiting on eye surgery that could make her blind, the other has a large aneurysm that will kill her, she also has a son with prostate cancer and leukemia and a granddaughter who died from lymphoma . I paid for my own test through the Nuffield, and now am being told that the NHS will need to check the result themselves, there’s a waiting list for an appointment to see a genetic councillor of two months, then it’s another 2 months for the results to come back. My little sister, who has been told by her doctor to inform them immediately should any BRCA be found in the family due to multiple breast lumps, so far cysts, has to wait 8 months for her test, as she now has to wait for my test to be repeated, then wait herself . She’s the same age my eldest aunt was when she died of bilateral breast cancer and is terrified, as she has to wait another 5 years before she’s eligible for a mammogram and is now considering paying for the test herself, just so she’ll know in 8 weeks and not 8 months. I have asked for a CA125 blood test, to reassure me while I’m waiting for my test to be repeated but can’t get it. 

Hi Louise, I’m sorry that you are facing these delays, it sound massively frustrating and just adds to the anxiety. It seems that it is all a bit of a lottery, and that you almost have to prove that you should be tested before it is properly considered. 
I have just had a risk reducing mastectomy, which was undertaken by the consultant who dealt with my 3 previous cancers, as I was still under that teams care. I am waiting for an appointment with genie for removal of ovaries and fallopian tubes.

My daughter has been tested and her results came back quicker than expected, and I was so pleased that she does not have the BRCA gene, such a relief.

Im amazed that they are repeating your test rather than accepting the test from the Nuffield, particularly as NHS often commission Nuffield to work on their behalf.

I understand that the genetic testing used to be very expensive and so there was a gatekeeping criteria, but over the years the cost has reduced significantly and so it is offered to more people now, but there does appear to be a waiting list wherever you live.

I was told that when I had my first cancer in 2009, at age 48, that the criteria then was a first bc, under the age of 40 with a family history of bc. So I didn’t qualify. I was adopted as a baby and so have no idea whether there is bc in my family or not, quite a disadvantage it seems as they take no information about family history as being that there is no bc in the family.

The criteria is now tnbc under 60 years old, with a family history, so not sure if I would get the test in the same circumstances. It is frustrating.

On a more positive note, the care, skills and expertise of the bc team at my local hospital mean that I have survived bc 3 times and had excellent care every time, provided by staff who really do care, and I am and always will be grateful to them. 

I hope that you and your sister are able to get some progress soon, and, whatever the result, knowing I think, is better than not knowing. I wish you both all the very best.