Genetic Counseling for Stage IV?

Sunshine99

Has anyone been offered genetic counseling after being diagnosed with Stage IV cancer? I'm not sure I see the point to it. I recently was tested for the PIK3 CA mutation (which I don't have) along with several other mutations. I don't have the BRCA gene, but a "possible" ATM mutation did show up on the test.

It seems to me that knowing my risk factors is pointless - I already have the cancer. I did send a message to the genetic counselor at my clinic who has offered me the counseling. They sent a form with lots of questions about family history, etc. A lot of it, I don't know.

I don't recall having a genetic counseling session the first time I had cancer. I just don't get why they'd want to do it now.

Moderators

Hi Sunshine,

Getting genetic testing might offer some other treatment choices for you. Check out this page/video from the main Breastcancer.org site on Genetic Testing and Metastatic Breast Cancer.

We hope this helps!

--The Mods

moth

sunshine it can identify mutations which other blood relatives might have. Part of the counseling when I did it was a family tree and information about how to communicate possible risk to family members.

So apart from exploring new treatment options for you (possibly in a clinical trial - I know at least 1 trial is using olaparib in atm mut) it is also about letting family know so they can choose to get tested or not

Sunshine99

Thank you Moderators. I've had the testing - I just don't know the point of the counseling. Wouldn't my MOs (I have two right now) be the ones to offer treatment choices based on the testing results?

exbrnxgrl

sunshine,

I have had fairly extensive genetic testing, all done after my stage IV dx. I had counseling prior to submission of the test. As moth mentioned, a family “health" tree was constructed after I had gathered as much health info on my family as possible. I was also required to take an online course on the implications of genetic counseling, effect on family members and possible effects on other aspects of life should any mutations show up. Everything turned up negative for me but since I have children and grandchildren, it was important to me that they have this genetic info. The whole experience sharpened my understanding of genetic mutations and bc and added to my overall knowledge. After all, many new members here are surprised to find that the majority of bc cases are not genetically related. I guess for me personally (retired teacher) anything that increases my knowledge is valuable.

illimae

Sunshine, genetic testing was ordered for me upon my stage IV de novo diagnosis. The primary reasons were a strong family history and being diagnosed at 41. The findings revealed no mutations, however, they do believe there’s something but it’s unknown at this time. I was advised to notify female blood relatives to begin screening at age 31 and any mutations found would have impacted treatment options for targeted drugs.

Anonymous

I was offered the basic BRCA scan and counseling a year after my diagnosis (because I was able to pay for it, it was not offered on the public system as I didn't qualify). I am the flip of exbrnxgrl and mae - no family history at all and the test came back BRCA1+. However, I have a sister who is 11 years younger than me, and I was dxd a few months after turning 42 - to be able to give the gift of that knowledge to her and for her to have the time now to be tested and maintain increased vigilance is I guess the one good thing to come out of all this. It also is a bit more information for my MO to work with for planning purposes.

I get the point,though,that the horse is long gone from the barn, what difference does it make? I guess to me it rounded off a outstanding question even though I absolutely didn't think it was going to come back positive. It was somewhat comforting to know that it was due to a broken genetic mechanism I had no control over or knowledge about.

As for the counseling - for me it was one in-person chat to take family history and go over the process and the blood draw. I had a follow up phone call about a month later with the results which was highly awkward as I think she expected me to start crying when I was shouting more about how I couldnt believe it. There was an offer to follow up 6 months later if I needed to ask more questions or if questions came through from the family, etc but eh - what was there to ask? Parents went and got tested and they found it was via my father, I alerted my siblings and sent along information pamphlets etc. I suspect if you are pre-cancer and get these results there is a bit more discussion/counselling - increased scanning vs removal, impact on fertility, etc.

exbrnxgrl

Sondra,

BRCA scan? I have never heard of that. What does it involve? I thought genetic testing was done via blood samples. I should also add that in addition to family history, we are Ashkenazi which increases the likelihood of BRCA genes involved. And my results? As we say in Yiddish, bubkes (nothing)!

kris_2000

Sunshine,

To add my two cents, I agree that the testing doesn't really do anything for you, it's more for knowledge for any family members. The counseling piece is there to walk you through any results and answer any questions. My sessions took about 5 minutes since there weren't any known factors found.

Sunshine99

Thank you, all, for the comments. I/we don't have kids. I do have 2 sisters, both over 60. I've messaged both the genetic counselor and my MO, so we'll see what they have to say. I have my next appointment and treatment next Wednesday, so maybe I'll ask then.

ShetlandPony

Don't confuse genomic testing of the tumor (PIK3CA) and genetic testing for inherited cancer susceptibility mutations.

Regarding genetic testing, some genes put you at risk for more than one type of cancer, so it is good to know what to screen for. Knowing this has helped my family members with the same mutation know what screening to get and possible prevention measures to take because the one we have raises the risk for several different cancers. Also it influenced the choice of my current treatment. It is a Lynch mutation. A BRCA mutation would influence treatment, too.

Sunshine99

Good point, Shetland. I do recall reading something in my report about BRCA and the ATM. Maybe they did it all. For $9,000, I would hope so! I'm waiting to hear back from the genetics counselor and my MO's office.

Snow-drop

Hi Sunshine, I diagnosed de novo at age 39, and I don’t have family history as I know, not something I proud of but I have not been in contact with extended family for such a long time. In very first assessment/ appointment, BS offered genetic testing but (former) MO was more excited to put me in his trial than to carefully understand the roots, he ignored the order until I got another physician who willing to order the genetic testing. It was several months after diagnosis, it was not blood test though and I did not get counseling afterwards. I’ve done F1 for genomic (blood) testing after bone scan showed a new lesion, again I did not get counseling, my current MO said it is not necessary now.

It is a peace of mind when you get this test done regardless the results, so your team has a clear idea to plan your treatment. The more information you provide the more close to accurate results you’ll get. Good luck, and please update us.

There is a thread that Moth started about genetic and genomic testing which I found it quite useful and informative.