BRAC test, initial consultation?

Papillon1 · March 2013

Am being referred to a genetic onc to discuss the BRAC tests and options. Breastcancer, primary and secondary is found with my mother, maternal grandmother, paternal aunt, and ovarian C with my paternal grandmother.

I was told to allow 1.5 hrs for the consultation. What will we talk about for that long, even before the test is done!?

I am convinced I want double mastectomy and ovaries removed. I am terrified of what the futur could bring - my mother is currently battling secondary bc in mre places than I care o think about, including brain.

I have 3 children and am desperate to do all I can.

Moderators · March 2013

Hi Papillon,

While you wait for the helpful answers from our wonderful community members, you may find it helpful to check out the main Breastcancer.org site's section on Genetic Testing, chock full of info for you.

Hope this helps, and good luck!

--The Mods

Lisa1637 · March 2013

Hi Papillon-

First and foremost I want to send comfort and prayers for both you and your mother...

Please keep in mind that this is only my experience...

Like you, I didn't know what to expect with the BRCA consult except to say that I was told the initial consult was a separate expense from the actual test.

I was referred for the consult to help make treatment decisions upon receiving the diagnosis of DCIS (mother had BC, Askenazi Jewish, and identical twin). I found the consult was two parts. 1.) The genetic counselor explaining (in great detail) the risks associated with testing positive for the gene for BC and Ovarian cancer and the different 'levels' of testing provided. 2.) the creating of your family tree (an actual drawing) which helped to determine the extent of cancer on both maternal and paternal side in order to determine a high enough prevalence which would put you at risk for genetic propensity. Both parts seemed to require quite a bit of information exchange and I do remember getting that overload and foggy feeling I have gotten many times during this process. The hour or more goes very quickly.

You didn't say if you have a BC diagnosis. But I definitely hear your story and fear about your family. One important stat I heard was only 15% of BC is inherited (genetic). I think the hardest part is acquiring all this information and making the best decision for yourself, one where you can live with some peace of mind.

Peace is what I hope for you...xo

Papillon1 · March 2013

Thank you for your answer. No, I do not personally have a bc diagnosis. I just fear it is inherited in our family as my mother and her mother have very similar stories.

I just want the test and so I guess I find all this pre test talk a bit of a bother..feel like I have to prove to them I am worthy of the test...

indenial · March 2013

No no, it's not about proving to them that you need the test! I am 30 years old, diagnosed with BC, with a family history of early BC. I had the test practically shoved down my throat by multiple doctors. I still had to meet with the geneticist for an hour or two before they ran the test. Mostly she took my family history, discussed the different genes identified and what each would mean, talked about recurrence rates and post-treatment screening, things like that. Actually it was the easiest and most enjoyable of all the appointments I've had during this process... and really helped me in my surgery decision process, even though I chose to have surgery before I got the genetic results. Go in with an open mind and maybe you'll learn something, maybe not, but it's not about you qualifying for the test. Also, be prepared for a follow-up appointment to receive the test results. It seems they want to make sure you understand exactly what the results mean and other implications besides mastectomy (like ovary removal etc.)

Papillon1 · March 2013

Thanks indenial.

I will learn something I have no doubt.

I am just scared and feel in a panic. But I know I shouldn't let that make me rush into things..

Wishing you all the best.

beacon800 · March 2013

In my case, the counselor took a detailed family history and made a chart of that. She had a slide presentation regarding the different mutations and what they meant. She left time to answer all my questions, including my concern of discrimination if it was postitive. From all this she entered the information into some sort of model that predicted my risk of having a postive test result. In my case the model predicted low risk even though my mom died of bc and her Aunt also had it and I had LCIS.

However, the model was correct as I tested BRCA negative.

Annette47 · March 2013

Interesting! I just had my blood drawn today for the test, but haven't had a consultation other than 5 minutes worth of discussion with my oncologist who recommended I get tested (diagnosed at 45, Jewish, only 1st degree female relative had bc, several prostate cancers among the men). I'd be highly surprised if I test positive, but if I do, I would request a meeting with a genetics counselor to see what it meant for me and my daughters.

beacon800 · March 2013

Very often your insurance company will insist on a consult with a genetic counselor to pre approve the cost of the test, which is very high. However maybe you had enough risk factors to skip that consult.

edited to add: I see you already have a bc diagnosis. This is probably why you didn't need the pre-test consult.

Annette47 · March 2013

Yes, I meet two of their qualifications (I was diagnosed at <50; Jewish with a first degree relative diagnosed), so I should be approved. Makes sense as to why I didn't need one though - hadn't thought of that.

Pattysmiles · March 2013

The genetic counselor took almost two hours with me.

I made it clear I was NOT interested in waiting for the results before having my surgery.

She went into excruciating percentages about breast cancer and even suggested I had another genetic issue called Cowden syndrome. She went into detail about that as well, even though my only "qualifier" was breast cancer. I had to wonder if she was getting paid to refer people to some testers out in Cincinnati as she mentioned numerous time if I did not qualify through insurance she would end my info to these people.

Any one else sit through a Speech about Cowden syndrome?

Anyway, she went and told my doctor I wanted to wait to get my BRCA results. I NEVER said that. So my surgery was out off, as I was told, by only a few days. Then I get a call the night of what would have been my surgery, from my dr. Telling me that the genetic testing hasn't even begun at the lab due to a dispute with the insurance company.

Turns out this IDIOT. Genetic counselor was too quiet when dealing with the insurance company ...when asked if she gave the insurance company hell she said"I'm not like that". What! But you messed with my surgery date so I could get those results, and now I would still have to wait two weeks! Minimum! Anyhow, dr is going ahead with my surgery without BRCA results,I am comfortable with that,I am "low risk" in regards to testing positive for this gene.

Honestly,I think they should have took my saliva and called me in for a consult nay if I tested positive. THEN I would have paid attention! My notes all say things like "why am I here!" "Shoot me now!" "What is she talking about" and "shut up already". Almost two hours of my life I can't get back!

Anyhow,if there are "normal" geneticists out there, great! And I am sure if i Went in wanting to write down every detail of "what if" situations I would have good notes. Unfortunately she had some bizarre agenda selling me another gene problem and droning incessantly.

And, to top it off, my surgery will now be Monday, without. bRCA results, and she calls me today to tell me the lab has now started my testing. Well just great, what is that going to get me. I'm dealing with surgery now, not genetic testing that won't be here for two weeks.

If someone asks me about this geneticist on a survey they will get an earful.

Anyhow, sorry for the rant,it's still a Fresh wound.

Genetic testing IS IMPORTANT.. In my case there is such a small percentage of having the BRCA that I felt it would not impact my surgery decision, even if I have the gene. It's been a month since I have been diagnosed with ILC, I would like my partial mastectomy and reconstruction so I can move to my next treatment stage. I have three kids and need to plan my life!

Good luck, sorry about the rant!

Pat

lekker · March 2013

I've spent a lot of time researching genetic cancer issues and my opinion that time spent with a (good) genetic counselor can be very valuable. He or she can help you create a detailed family tree and find clues to a possible genetic basis for your (or your family's) cancer/s. While BRCA 1 and 2 mutations cause the majority of known genetic breast cancers, there are several other genes that could be the culprit. Cowden's Syndrome (PTEN) was mentioned in an earlier post - there are some very specific external markers of Cowden's and in the absence of those, it would indeed be very strange for a genetic counselor to suspect that. There are also multiple versions of the Myriad Genetics BRCA tests - if you have Ashkenazi Jewish background, they might possibly only test you for the three founder mutations most commonly found in that group. That test is only a few hundred dollars and is also included in the commercially available 23 and me test for only $99. When my genetic counselor initially told me I was BRCA negative, I asked for the written report and saw that they only ran this most basic test. I asked for and received the full sequencing and BART tests and they were also negative. Because I had a stage 0 colorectal cancer at age 30 and ILC at 42, there's a strong suspicion of a genetic component to my cancers so the next step was the Broca (sounds similar to BRCA but is actually the name of a doctor) panel out of U. Of Washington that fully sequences 40 "oncogenes". This test takes 12 weeks to get results so I will be waiting until May.

My advice to you is to try to get as many details about your family as possible - for cancer, try to find out age and stage at diagnosis, what specific type, etc. Ask about high blood pressure, diabetes, cardiac disease, benign growths and conditions that seem to run in your family, etc. Some hereditary cancer syndromes have distinct benign conditions that go along with them so it's good to mention everything that seems common in your family.

The truth is that while we can sequence the entire human genome, we still only understand very small pieces of it. We are all mutants, but only some of those mutations will ever cause a problem (and some are actually protective) - we only know a few of the troublemakers. The genetic counselor should be able to explain what the test can tell you (and what it cannot) and possibly identify tests other than BRCA that might be useful for you. I wish you all the best.

Papillon1 · April 2013

I had my first consultation today. It was 45 minutes - though they had said to allow up to 1h30 - putting together a family tree with who had suffered what type of cancer. It was quite detailed and used a lot of terminology that made me glad I had already been reading up a fair bit about breast cancer and the genetic side of things.

The told me the majority of breast cancers are spontaneous. A smaller amount are what I understood to be people who do not have a genetic mutation but some predisposition to developing breast cancer, but they are unable to test for this yet, and an even smaller amount is the group of people with the genetic mutations leading to breast cancer.

It has kind of made me feel like I am maybe wasting people's time...which isn't wha they wanted me to feel I am sure, but I did kind of start to wonder.

They suggested it a good idea to test my mum. I feel bad about that - she stage 4 now and going through all treatments and awaiting prognosis...

But they explained it is much more effective to test someone with cancer and to find a mutation and to the look for tha mutation in me...rather than looking at my DNA and it being entirely sure where the mutation could be...I guess the mean tests beyond BRAC?

They said the will now research and try to confirm what particular strains of cancer (maybe strain isn't the right word) people in my tree had, the will send letters to the hospitals involved, and then the will discuss further with a bigger team of medics and make a decision on wether DNA testing with be of use. It is likely to take make weeks to reach the next stage.

Te asked me many questions about lifestyle, diet, breastfeeding, alcohol, smoking, contraceptive pill, excercizing, sunburn etc etc.

Am kind of amazed by how much work will go into this.

To tip: as with all appointments in life, write down questions before you go in..I was so baffled and flustered by it all I had few questions..

Until I was down the corridor on my way out. Doh.

BRAC test, initial consultation?

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