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Anyone waiting for gene test results.

12 REPLIES 12
ickleme123
Member

Re: Anyone waiting for gene test results.

Hi Ladies,
I had my blood taken 3 weeks ago for my gene testing. My mum, aunt and cousin have all had bc, but we also have stomach cancer and prostate cancer in the family too. Iam considered high risk (wish I knew this before I got bc!). My sisters bestfriend had the gene test earlier this year and got her results in 3 months (positive braca 1) so am hoping that my test will be back around new year ish. At present I am still going through chemo so have enough on my plate to worry about. Iam 47 years old with 2 daughters and 2 grandaughters so its my girls I worry about. Whatever the results are I will cross the bridge when I come to it, each day at a time, but try to look at it positivley.
Tracey xxx

Lulu34
Member

Re: Anyone waiting for gene test results.

Gingerbud thats really interesting what you say about the cost of getting private testing... i know they quote around £3000 for tesing of non affected individuals as they generally send it to myriad in the states, but i was never able to find any prices for private testing for affected individuals so thats very good to know.... and 8 week turn around is about half the time of the NHS testing.

hi Caram

has your mum been found to have a brca 2 mutation... i wasnt quite sure from your post if you were having gene analysis for any mutation or a predictive test to identify a specific mutation on the brca 2 gene.

as for risk reducing surgery you dont need to have it if you dont want to.... any good genetic team wont even 'recommend' you have surgery as such, but as you said they will ask you to 'consider' it... for some people they are happy to have more intensive screening but... if you do decide to opt for surgery they would normally suggest oophorectomy from 35-40 or after your family is complete and depending on whether you plan to breastfeed or not you could have mastectomy any time you wish, usually 5 years before they youngest person to get it.

your genetic team should also be able to discuss the chances of passing on any gene change... that even if you have a baby it would be a 50% chance of getting the gene or not.

there is also a lot of hope that in the next 20 years there will be so many advances in terms of genetic cancer so bu the time your baby was an adult there may well be much more options available....

remember 20 years ago nobody even knew braca1 or 2 existed.... a lot can happen in that time.

love Lulu xx

Guest user
Not applicable

Re: Anyone waiting for gene test results.

Hi All,

I had my blood test 4 weeks ago and get the results next Tues on 26th Oct. I am 38 and my mother was dx with bc when she was 49, she is now 64 (she had a mastectomy & hysterectomy back then and no recon). I think it took about 6 yrs to determine it was a genetic type. I am not sure how I should be feeling right now, I am one to put a brave face on in public & joke about things, however when I am on my own I find myself crying for no reason and then telling myself off for being pathetic. I have no children & have been advised if I do come back with the BRCA2 that I need to consider removal of my ovaries & a dm with recon. I guess having the choice of having kids taken away from me is upsetting but also my partner refuses to talk about the what-if's, I wrote to my mother who lives abroad & mentioned I'd been for the test & when I was getting my results & when she replied she didn't mention it. I let my sister in law know via email & she has not replied. I feel so isolated and as if people are avoiding talking to me. Did anyone else have this reaction from others?

Guest user
Not applicable

Re: Anyone waiting for gene test results.

Oops that should say 8 week turnaround ! X

Guest user
Not applicable

Re: Anyone waiting for gene test results.

Hi ladies
I have no family history that I know of but my paternal nan was adopted and that side of the family is very male dominated so if there was a gene fault we wouldn't see it. I was diagnosed with tnbc in jan this year aged 32 + I am being tested under the brca3 study as I didn't meet nhs criteria for testing. The sample was sent late June but I was told to expect to wait 9mths. I have since had further spread to skin + chest wall + have decided to pay for private testing which is much faster so that I can access parp inhibitor trials if a mutation is found. My clinical genetics team have been fantastic literally falling over themselves to help me. They researched all tge private companies for me + have sent my sample to a company in Wessex with a wk guaranteed turnaround time for comprehensive brca1+2 testing. it only costs £655 compared to over £1500 with other companies.
I just didn't want to find out too late that I have the faulty gene- if I've got it I want to know asap as it will allow me to access drug trials.
I think it's awful that so many of you are being messed around by the nhs- my team have been brill + very apologetic that they can't test me for free. But it would have took months anyway so the private route suits me especially at that price.
Best wishes to you all
tina xx

LancsLass
Member

Re: Anyone waiting for gene test results.

I too went to Manchester to see the genetics team 3 weeks ago and I haven't received the letter that they promised to sent outlining what we had discussed. I have tried to contact the person that I saw but keep missing her, yet my cousin saw someone in another area and I managed to speak to her at length about our problem. Is it that these major clinics are so busy they havent the ime to get back to patients. I am determined to chase this up as I am due to see my surgeon in November for my check up and wanted to discuss a bi- lateral mastectomy.
x

Helen
Member

Re: Anyone waiting for gene test results.

Thanks Lulu. I think the word 'MAY' will be the stumbling block for women accessing mri's. I know my health authority will use it to their benefit!!

Eliza
Member

Re: Anyone waiting for gene test results.

Hi Sharon,

My blood sample was sent to the lab on 6th April and they sent the result (no mutation found) to the Genetics service on 28th May. The Genetics Service recorded that they received it on 3rd June but they didn't send it on to me until 29th July! And I'm still waiting for an appointment to discuss the result with the genetic counsellor... It seems to vary considerably from one place to another and my experience suggests that it isn't always the lab where the delays occur.

I have just joined the ICR study (suggested by the Genetics Service) and the SEARCH one (suggested by my GP).

As I was dx with breast cancer nearly 2 years ago and am over 50, I'm currently in 5 year follow-up (and taking tamoxifen) and after that will be in the standard national screening programme. I'm also in the ovarian cancer screening UKFOCSS study as there is family history of that too.

Eliza xx

Lulu34
Member

Re: Anyone waiting for gene test results.

Helen

the MRI screening is a new thing and it isnt fully implemented yet... in my area we were hoping to have it in place around xmas time, but we are still in the process of planning how we are going to put it into practice.

in some areas they may already have it place and other may still be in the process of implementing it... i dont know if there is a final date stating when it should be fully rolled out.

in my area we are screening those between 30 and 50 however the guidelines state they could do it from 20 for gene carriers but i suspect this will only be in rare cases where that would be 5 years younger than the youngest affected family member.

"Yearly MRI screening MAY be offered to women between the ages of
20 and 49 if they have a high risk of breast cancer, including women
who have one of the faulty high-risk genes."

the word may is highlighted in the guidance so it will probably be down to each individual trust or health authority how they actually manage their screening of BRCA carriers.

this is the nice guidance...
http://www.nice.org.uk/nicemedia/pdf/CG041PublicInfoCorrected.pdf

hope that helps

Liz i think may people were entered into the BRCA3 trial who actaully were thinking they were getting a full gene analysis... the BRCA 3 trial run by the ICR isnt genetic testing but it does some test for certain BRCA1 and BRCA2 mutation but not for all the ones that a lab carries out... and it does take a lot longer to get results.... many of my patients who have entered the trial years and years ago have never had any formal results.... and some patients who thought they had bloods sent to the ICR have been found not to have any knowledge of them... im not sure if they just had poorer record keeping in the earlier days of the trial or if indeed some samples went missing en route.

my bloods were sent to the ICR in aug 2006 and results came back in june 2007 saying no mutation was found and that was a full search so if yours was sent off in may 09 hopefully your result should be coming soon.

Lulu xx

lizcat
Member

Re: Anyone waiting for gene test results.

Hi Sharon,

Mum & I were tested in May 09 and still haven't heard anything! After my oncology checkup a couple of weeks ago when the registrar said there were absolutely no letters on my file about the testing from Manchester, she suggested I chase them. I rang but no-one was available apart from a secretary who said she would chase it. She rang me back the next day and said my file was with the doctor's secretary so it looked like a letter was on its way out. A week on and no letter!! Manchester have passed me on to the ICR study where they are looking at another gene (I assume brca3) but I only found that out by ringing ICR when they sent the testing kit. Communication on this has been less than brill....

In my family, there is my mum, her twin sister, their older sister and only female cousin all with bc. Then me but I was younger. I also had a male cousin who died from a form of skin cancer aged 39. They think there is a faulty gene somewhere but said it is unlikely to be brca1 or 2. When the letter arrives, I fully expect it to say no gene has been found.

So this probably isn't much help to you - sorry!

Look forward to seeing you on Mon.

Liz x

Helen
Member

Re: Anyone waiting for gene test results.

Hi sharon,
I think the length of time it takes to get results depends on the area you live. Mine took 17 months back in 2005, though now I believe they do come back quicker than that.
Lulu, I was interested to read about mri screening being offered to BRCA carriers in the next few months. Please can you clarify what you mean about 'exact details may vary between health authorities'. I haven't heard anything about this and would be interested to know more, thanks.

Lulu34
Member

Re: Anyone waiting for gene test results.

hiya sharon

not sure why your gene testing is taking so long unless its part of the brca 3 research trial....

the lab analysis should only take around 4 months to do a full gene analysis for brca 1 and 2.... or maybe this is just the time scale in scotland.

i know the brca 3 genetics of familial breast cancer research trial can take around 9 to get a result but it isnt so thorough as the lab analysis mine came back negative through the research but positive 3 years later through the labs as i have a missense brca 2 mutations and apparently missense mutations are looked for in the trial.

after getting my initial letter saying i was negative back in 2007 i never for one moment actually thought this one would come back positive i just thought it was more a paper exercise dotting the i's and crossing the t's... and was actually pretty shocked when i found out i had a mutation... but over the months have come to terms with it.

i recently had a hysterectomy and ovary removal as the brca 1 and 2 genes also increase the risk of ovarian cancer... just got my path results on friday and there was no evidence of malignancy which is very reassuring as a cousin died from ov ca at 45.

i have seen the plastic surgeon and on the waiting list to have bilateral mx with implant reconstruction and permacol... but im not in any hurray to have the surgery as im still recovering from the TAH and BSO which will take another few months before im fully fit.

i actually work in breast cancer genetic screening as a bcn so my work are being quite supprotive.

one thing to bear in mind with genetic testing is that even in high risk families the majority of people will have an inconclusive result only around 20% of those tested will be found to be gene carriers.... this unfortunately doesnt lower your risk or that of your immediate family and they will be entitled to early screening.

if you are found to be a gene carrier then family members will also be offered a predictive gene test for your exact mutation form age 18 if they wish it. this predictive test will either give a positive or negative result.

positive means they do have the same mutation and are high risk and will be offered more intensive screening and prophylactic surgery.

a negative result means they do not carry your gene mutation are not at any increased risk and would have normally screening from age 50 as they have the same risk as the rest of the population.

brca 1 and 2 carriers are offered more intensive screening... annual breast exam from age 25, mammo normally 2 yearly from 35 or 5 years younger than youngest family member diagnosed but not commencing before age 30, then annually from age 40

and in the next few months they are also going to be offered an annual breast MRI scan between the ages of 30 and 50... although the exact details amy vary slightly between health authorities.

the annoying thing is more scans mean more anxiety... especially as mri is more sensitive and picks up abnormalities which dont really exist... i had my first mri in june and required a follow up ultra sound and a few weeks of worry only for nothing sinister to be found on USS or mammo.

sorry for the mammoth essay... hope i havent put you to sleep.

Lxx

Guest user
Not applicable

Anyone waiting for gene test results.

I had the test on the 1st of june this year, and am expecting my results by feb next year. But i am hoping to get them sooner.
I have had a mx and anc, in feb this year, i am having the test due to extensive family history.
I feel like i cant move on from this nightmare until i have the results.

Would love to hear from anynoe else, about their experiences of testing.

Sharon