genetic testing

Hi Yaya
I have just completed my genetic testing journey and TG I am negative. I wish you and your sister the best of luck with your journey too.
I went private as I do not know my family history and did not qualify for testing because of this fact. However as I was triple neg and was 39 when diagnosed I wanted/needed to know if I was BRCA positive or not.
I went for counselling before my test and was presented with all my options if I was positive.
It took about 6 weeks to process the test and cost approx €1500. While I waiting for the results the nurse rang me to make sure all was well and if I had even more questions. I had another hour long session when the results came through and everything was explained in detail. I think the process may take longer going public but I think you will/should have counselling before hand. If you wish I can send you some websites that I used to confirm my understanding while I was waiting for the results.
Just let me know and again best of luck to you both.
I would definitely advise counselling and to bring a friend along as well.
Jeanette

Hi yaya

I had genetic testing done in crumlin about 18 months ago. Much like you I was diagnosed at 39. My aunt on my dads side was diagnosed at 44 and since my diagnosis a first cousin was diagnosed at 41.

However my results came back negative for KNOWN mutations. I still wonder if there are other mutations out there not yet discovered!!!

You will most likely get some forms back from crumlin to complete. Fill these up and return them as soon as you can and include any research you or your sis might have done on your extended family tree including diagnosis for ovarian cancer and also prostate cancer together with age at diagnosis.

You will have a wait for an appointment for up to 6months and a further 4-6 month wait for results. In that time you can research more about BrCa and consider some scenarios like what you might opt to do if you are positive.

For me I was adamant I wanted to know if I had the genetic mutation. Early on I had decided that if I was positive, other booby was coming out as well as ovaries, womb etc, whatever I needed to do to reduce the chances of the beast that is cancer getting me....

There is a really good US website that I have heard of called FORCE - can't remember what it stands for.

Best of luck

Lindylu

Hi YaYa and everyone,

I was diagnosed in June 2006 at 37 and, because of a significant family history on my mothers side, I pushed hard for genetic testing. I'm not sure when they sent the referral letter but I had my appointment in Crumlin on May 3rd 2007 (the 2nd last day of my RT in St Lukes). Its a bit hard to find the Genetics centre in Crumlin Hospital, you have to follow a coloured line on the wall through several winding corridors. I met with a nice counsellor and we had a short chat to see if I understood what the test was about and what the results might be. I think she just needed to check I was mentally ready for it - I SO was! The actual test just involves a small amount of blood being taken.

I got my results at the end of August so it took almost 4 months. They sent my blood to a Genetics Lab in Birmingham. Their results letter is dated 28th July but stated they got the sample on July 7th so Crumlin must store samples for a while and send them over in batches, perhaps?

When they are first testing to see if a mutation exists, it takes several weeks to do the testing in the lab because they have to test every position in genes BrCa1 and BrCa2 (and there's a lot!). If they find a mutation in the first family member to be tested, they record the mutation and its location. This way, for subsequent family members, they just have to look at that precise location to see if the same familial mutation is present. So these subsequent tests are usually quicker. My extended family who tested got their results in 4-6wks I think.

A word of warning IF THE RESULTS COME BACK POSITIVE for a mutation: Finding you have a genetic mutation can be like opening a can of worms. You have to get used to having the risk factor hanging over you all the time. You have to decide what you personally will do about having one. It can make you paranoid about whether you have passed it to your own children (children cannot be tested until they are 18). You may even feel guilty that you have introduced this tricky topic into your family (but remember this is not the case, its been there for generations!). You have to decide whether to tell other family members who may be affected.

That last one can be very tricky because some people just don't want to know and won't want to get tested themselves. They may even resent you telling them that you have a mutation because that means therefore they might also. Personally, I decided that it was my duty to inform as many family members as I could find but that it was up to them to decide what to do with the information. The genetics counsellor in Crumlin will discuss this with you and probably give you a sample letter to pass on to other family members that contains the relevant information.

I found I needed some support dealing with it all and was delighted to find FORCE - Facing Our Risk of Cancer Empowered. Its a US site but gave me loads of information and the chance to talk to other women in the same position as me. It also has info and discussions on the menopausal side effects caused by treatment or preventative surgery. Through it I met some English and Irish women and found another more local website called BRCA Umbrella.

http://www.facingourrisk.org

http://www.brcaumbrella.ning.com

If anyone ever needs to talk about this in more detail, feel free to send me a PM on this site. I have no shame and will share all my personal details of my sordid past!!!!

Regards,
Flo.

This is a really useful thread, and thanks to all for outlining the issues, particularly with respect to telling the rest of the family if you are positive, making hard decisions and so on. I'm being sent to Crumlin too, though it's a ways away for now.

Thanks (might take you up on your offer Flo, when the time comes),

x

hi Jeannette, Lindylu and Fh2,
thanks so much for all the info its so helpful. Jeannette if you don't mind id love to know those websites as the more info I can gather the better.Its great that you and Lindylu tested negative but i know what you mean lindylu when you worry about another mutation. I think once cancer has struck you will always worry a bit.
Thanks for all your info as well Flo. When I was with my Surgeon he was asking if I was really sure i'd thought it through about going ahead with the genetic test but once i said all I wanted was to be here for my two little girls he said okay ill send the letter.
Its so true what you were saying about it being hard for the rest of the family as i think its different for me as you worry every day about it coming back so the genetic test would be helpful to me. It will be hard for the others but that will have to be there decision if the time comes.
My Surgeon said ill have to have Counselling before and after test so that will be good. He gave me some of the percentages involved in a positive test result so i'd say ill be doing anything I can to reduce that. I thought last year was hard but all the decisions were made for me! Not so much fun making them myself
Thanks a million for everything i'll look at all those websites and get as much info as i can.
Good luck with all your treatment Ephemere
thanks xx