Anyone do genetic testing?

Merlcat · December 2012

Not sure if this is the correct place to post....

I have an iniitial appointment with a genetic counselor next Thursday. Anyone know what to expect? I already filled out a 17 page questionnaire even before the appt was scheduled - sigh

Nurse_Lizzie · December 2012

I met with a genetic counsellor at my first appointment at the breast center. She did a detailed family history, probably much like the questionnaire you're filling out. During this time, we decided whether the BRCA testing was right for me, which it was. After that, they contacted my insurance to get prior approval, because it is very expensive. After that, blood work, which was drawn the same time as the rest of my preop labs. It was a pretty straight forward simple process in the end.

CTMOM1234 · December 2012

Like everything else on this bc journey, the psychological part of genetic testing is very very stressful (at least it was for my husband and me). I had BRCA1&2 tests run and there was a lot of data gathering about my family background and making sure that we understood how the tests worked and what we would do with the information (assuming the outcome was positive, which it wound up not being, thankfully) before the genetic counselor would even put through the paperwork to run the tests. I was fighting back tears from the moment I walked into the office until I left, because I knew some serious surgical decisions were hinging on the outcome -- and we have children so there's that added component of worrying that if I'm positive, they could be too.

The waiting for the results was very stressful, and of course the information is not given over the phone -- so another visit to the place is needed (at least that's what mine did). My BS had ordered the tests and our insurance covered the testing in its entirety. While awaiting the results, I met with a plastic surgeon to discuss if I was a candidate for immediate diep reconstruction -- both mx and bmx were under consideration (my bs wouldn't talk about a lumpectomy before my mri and genetic test results were in).

Wishing you good inner peace and of course great test results.

Natters · December 2012

I did it before surgery, because I would have considered a MX rather than lump if I'd tested positive. It was pretty much like Nurse Lizzie described. Using the info I'd provided in advance, the counselor had prepared a family tree for me, which she went ver. Then she talked about what genetic testing can and can't do for us, and the pros and cons of having it done. Your insurance will generally pay for it if you have a strong family history or you're young or both or they have some other reason to suspect you might test positive. Mine paid even though the counselor said I might only have a 5-10% chance of being positive. I went ahead and took the test because it's just a blood draw and then not only do YOU gain some important new information about your own health risks that can help you make decisions going forward, but you can also provide your first degree female relatives with this important information.

Good luck, Mericat!

(beautiful tabby in your pic btw - they are such a comfort during rough times)

Deirdre1 · December 2012

I don't post very often anymore (I am almost 6 years out from dx) but genetic counseling is a new arena AND it changes all the time! I had specific family history where they expected that I would present BRCA positive but that wasn't the case. And if that was all they said I think it could have been a good journey. They took all our family history and put it together into a chart and of course mine had a strong family history - because of that they made some additional recommendations. They suggested that I have bilateral mastectomy and both my ovaries and uterus be removed. This seemed extreme - incredibly extreme - before I took the test I told myself I would take the report with a grain of salt however once it was written by an authority (University specializing in cancer treatment) it was difficult to place it into anything other than an emergent situation - and my doctor's saw the recommendations as requirements. If I had it to do again I don't think I would have had the genetic testing - not because of the result (negative) but because of the recommendations that were put in writing from the University. It was negative but in order to "protect" me they wanted me to remove any threat. For a science that is changing and developing every day I think it is just too soon to take genetic science to the extremes we do. I am not sure how one would do this but please be very careful if you decide to go through with genetic testing - it's more than just a test to address your current concerns it can become a treatment plan for you doctors.

ballet12 · December 2012

I agree with Deidre1, you need to approach the BRCA testing carefully, and you need to have some idea as to how you will respond to the results, positive or negative, not only what your physicians might want to do with them.

Deidre1--I can understand why MD's might make the recommendation they did (although don't know about the uterus--only breasts, ovaries and tubes are usually removed), if someone has a strong family history. At the same time, it's your body and your risk tolerance. And, especially if one is found to be negative for BRCA genes, it may be possible to consider a more conservative treatment approach, if that is what the patient wants.

Also, it's a good idea to get a second opinion (on anything and everything).

ShaneOak · December 2012

Okay, so I very new with all of this still and after reading this I clearly have TONS more to read on genetic testing. I have an appointment next week with a genetic counselor.

I thought the only reason why I would have it done (aside from my BS recommending it due to my age) was for my children. My oldest daughter from a previous marriage, now has BOTH biological parents that had cancer. I would want her to have all the information she could on her risks. Also, as she gets older if new medical issues come up, I want to keep an extra keen eye on the possibility that it may relate to cancer. I find myself very tearful just typing these words because me being sick is one thing, but my kids are another.

What does it really mean if I come back positive for BRCA? Am I then predisposed to other kinds of cancer or just BC?

I will be digging into more research on this for sure.

Thank you all for your perspectives.

Deirdre1 · December 2012

Ballet12: Certainly it is our choice, but when primary care, 2 bs, 1 genetic counselor, and 1 onco read what was written about my risk and recommendations by the genetic specialists they all called to put their 2 cents in and it was all about removing these organ even though there was no BRCA + (oh but I do agree the uterus was almost a "you might as well remove that along with the other surgeries")... I also understand that there will be other genes found that will have an effect on the treatments involved in bc that are only now starting to see the light and IMO a doc shouldn't be making a case for what might be. Now add all these phone calls on top of your decision and the weight is almost too heavy to bear... I went bi-lateral not because my family risk suggests that I should but because of the pressure that doc's put me under because they THINK I might be at a risk that is to-date unknown... I caved.. I have been sorry ever since. Genetics are something we should be very careful with IMO...

AS for a 2nd opinion yes always good but be prepared to get a 3rd tie breaker - and also please add a psychologist/therapist on to your list of specialists - it might help if the doc's do put you under too much pressure..

Good luck - I know this is very difficult!!!

Beesie · December 2012

ShaneOak, here are some websites with good information about the BRCA genes, what's involved with genetic testing, and what the results might mean for you and your family:

Hereditary Breast Ovarian Cancer Syndrome (BRCA1 / BRCA2)

Breast/Ovarian Cancer: BRCA1 & BRCA2

BRCA1 and BRCA2: Cancer Risk and Genetic Testing

One thing to keep in mind is that most cancer is not hereditary. And also remember that in North America, 1 out of every 2 men, and 1 out of every 3 women, are expected to develop cancer during their lifetimes. So the fact that your eldest daughter has two parents who've had cancer does not necessarily increase her risk. Both cancers could be random and not genetic, in which case your daughter's risk hasn't increased at all. Speak to a genetic counsellor, and from there, decide if having the test is right for you.

By the way, I was tested and my results were negative. There is a lot of cancer on both my mother's side of the family (breast cancer, colon cancer, thyroid cancer) and on my father's side of the family (prostate cancer). So I'm in the clear as far as the BRCA genes are concerned (or at least those variants of the gene that were identified 6 1/2 years ago when I was tested) but I don't know that I'm really in the clear!

ballet12 · December 2012

Deirdre1--I'm sure I would have done the same thing you did, under the circumstances. It must have been incredibly stressful.

Merlcat · December 2012

After reading all of your responses, and seriously considering my risks along with the actual numbers, I think I may decline genetic counseling /testing. Granted, my maternal grandmother died in 1966 from breast cancer, in her 60s and I have 2 maternal aunts, as well as a maternal and paternal cousin, and based on just that, genetic testing is warranted BUT when you consider that that is 2 out of 23( combined maternal and paternal) or 2 of 11 just maternal and 2 of 77 first cousins, those numbers don't look so terrible huh?

Any opinions out there?

exbrnxgrl · December 2012

Why don't you at least speak to the genetic counselors and see what they think? This doesn't mean you have to take the test, it may just help clarify, for you as an individual, where you stand. Very few people actually test positive for known genetic mutations.

Deirdre1 · December 2012

Merlcat, my suggestion would be to do the test BUT do not share the results with your doc's (unless it is BRCA+) - it only serves to confuss the situation if it is BRCA- and there is strong family history.. It is a tool and as long as it can be used by you and only those you selectively want to expose the results to it can be helpful... When I first saw it I thought I would share it with all of my siblings, cousins and other close family - but after my treatment and after the anxiety of the entire situation toned down I only shared it with the family members who ASKED for it! I was surprised when only one or two of them even wanted to know the results... I could go on a rant of how they were in denial, but given the way my results were used within the medical community I think THEY are smarter than I was <grin>...

The one older Irish gyn doc gave a long lecture on "when we only have a hammer, everything else looks like a nail"... smart old gal but the number of other doc's outweight her common sense approach..

So use the tools available BUT be very careful who you allow access to the results! That's all I am saying.. this is all tough territory so I wish you all the best!

Sincerely,

Deirdre

sunshinegal · December 2012

I had genetic testing done because (1) I was young at diagnosis (36); (2) my mom had just been diagnosed w/ Stage 1 IDC a few months earlier; and (3) there is a lot of cancer on my mom's side of the family. In my case, my mom had also had genetic testing done so I provided her results to my genetic counselor, which made the paperwork part much less daunting for me (thanks, mom!). We were both BRCA1/2 negative.

I'm sorry to read about Deirdre's experience after getting negative results. My surgeon is firmly convinced that I got cancer randomly and that there's no real need to worry about genetic components. I, on the other hand, think they probably haven't mapped every mutation that could cause cancer so there could still be a genetic link to mine... but who knows.

I have definitely not been, nor felt pressured to be, 'overtreated'. I am currently debating what to do about the contralateral side and my surgeon isn't pressuring me either way. I will say that when I was first diagnosed two years ago, I sought a second opinion and the 2nd surgeon I saw was on the doomsday end of things: before having my final pathology in hand to know what I was dealing with, she was recommending BMX. I did not go back to her - these are huge decisions and I was not going to make them without as much information as possible.

CTMOM1234 · December 2012

It does feel like a pandoras box once you agree to genetic testing. How does one prepare for receiving unfavorable results? What do you do with the information? I can definitely appreciate that many people do not wish to know (my sister included), but I agree with sunshinegal. These are huge decisions and I wasn't going to make them without as much information as possible!

I never felt pressured by my surgeon or anyone, I just wanted the facts so that I could make informed decisions. In fact, once my BRCA1&2 tests came back negative (thankfully) compounded with the mri showing nothing more to be concerned with, my surgeon and I were able to have an open dialogue about FEWER surgical interventions -- I am so sorry that Deidre's experience after getting negative results was unpleasant, that was most certainly not my case and I'm thankful that I didn't have my ovaries, uterus, a bmx, or a mx because these were all under consideration until I got those favorable genetic test results.

Wishing the OP peace of mind and good results.

Anyone do genetic testing?

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