Genetic testing: chances of being approved/worth going to US?
*ETA: SORRY THIS IS SO LONG, I DID NOT REALIZE!
I have never been diagnosed with bc. I have had several treatments in the past for pre-cancerous cervical abnormalities, but that is it. I am in my early 30's. My mother was dx with Stage III, aggressive invasive lobular carcinoma in her left breast at 48, about 7 years ago now. It was missed on mammogram less than a few months before. It was ER+. If I recall correctly, about 19/20 of her removed nodes were positive. She is doing very well these days after a mx and preventative mx of right breast, chemo, radiation. She is still on tamoxifen. She does suffer from lymphedema and several effects from chemo and such.
Her mother (my maternal grandmother) was dx at 54, but had first seen signs of lump at in her late 40s but never returned until 54 due to distrust of the medical technician who had seen her. She died at 60 when I was a still a young girl.
My mother's maternal grandmother died on an operating table. She had refused to go to doctors EVER and only went when near death. They did exploratory surgery of some sort and found her to be riddled with cancer. No primary dx, but may have been BC as well as anything else really. I never knew her.
My mother's paternal grandmother had a BC dx in her 50s or 60s but was treated and lived to a ripe old age.
I do not have any aunts. I have one bio sister who is several years younger. I have some female cousins who are even younger (like in their late teens and early 20s). I do have some uncles in their 50's with no cancer as of yet, and one younger bio brother who is also healthy thus far. Maternal grandfather died of unrelated cancer (lung). Paternal side is overall healthy, with my paternal grandfather with colon cancer but this is likely very much lifestyle related.
Maternal origins are Icelandic/Welsh/English.
Soon after my mother was first dx I went along with my mother when she went to see a genetic counselor. The genetic counselor was very dismissive of any risk and it was a very disturbing experience for us both. Especially as my mother was still fresh out of her bmx surgery and still in chemo. The counselor focused much more on chances I may have a high genetic risk of miscarriages (both mother and grandmother had many, many of them) which was not relevant to our purposes being there or to me really since I am not having children. It was not a pleasant experience and I felt pretty jaded after, hence me not really pushing much for it again for several years until the last few months or so.
And, not too surprisingly ever since then my mother has been very reluctant to try again as well. She was always very vigilant about self-exams, mammos, etc after witnessing her mother's experience since she knew she was higher risk, but she is positive there is no genetic link and/or is convinced by fact that I exercice and eat healthy and such that I will be fine. I am not convinced. Neither is my sister. Indeed, my familial risk causes me significant anxiety. Not just the risk to my own health, but having seen two women I love VERY much go through breast cancer, losing one, and thinking I was going to lose the other. I want to do all I can to avoid that for myself, and for my loved ones to have to witness that with me, or experience it themselves if they can take precautions. It breaks my heart to think to have to wait for either myself or my sister to get cancer to finally get testing.
A positive test won't change what I *want* to do. But it may change how medical practitioners are willing to treat me around here. I had a much easier time in my old province with my former doctor. But, I was in a bigger city and my doctor was a breast cancer researcher. It been difficult for me to get additional screening (MRI for example). Also, I very much want a preventative bmx. I realize it may be very difficult finding someone willing to do one up here without a positive BRCA/BART test. This is why testing is important to me. That being said, even if those tests came back negative I would be pushing for a preventative bmx as I am not sure I will be convinced there isn't something happening in my family line. All were quite healthy women with low risk factors otherwise. I have many reasons I would rather get a preventative bmx than wait until there is something. I am not sure how successful I will be, I imagine it will be much harder without a postive BRCA/BART test..or with a negative one, but it is important to me. Anyway, that is a bit of a different topic altogether and one not without controversy, and other concerns, I am aware.
Anyway, my mother is reluctant to go back and try again for testing as she is, as I said, convinced there is nothing though her last oncologist told her before they left that practice they really wanted her to go (after hearing her give her history). I have told her that things might have changed since our last experience and that I have seen criteria that will do testing on:
- those dx'd before 50 and/or
- has bc history and 2+ 1st, 2nd, 3rd degree relatives with bc and/or
- has bc history and is of certain ethic background including Icelandic.
She is still unconvinced and reluctant they will test her.
That being said, she has said if it will help me and my sister, she WILL go to the US and pay for it on her own instead of go through her provincial program. I have told her that likely if my sister or I got accepted in either of the provinces we live in they would WANT to test HER here first anyway since she has actually had BC but she told me to book her an appointment at Mayo Clinic and I have put in the request for an appointment for her on her behalf.
I guess what I want to know from anyone who has had genetic testing or gone through it, especially in Canada, what are the chances my sister or I being approved for testing based on the above even though we have not had BC (my mother has said if either of us are approved she will give blood/swab as required)? If we are both refused, does it make sense for my mother to go to the US and pay the money (which she is willing to do) to get the testing? What are the chances of she being accepted for testing if she is paying for it out of pocket rather than worrying about provincial health insurance/private health insurance?
Comments
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What province are you in? I'm in Ontario and had BRCA testing. I tested negative.
Normally it is preferred that someone in the family who has been diagnosed with breast or ovarian cancer be tested first - and based on your mother's own diagnosis at the age of 48 and her family history, I don't think she would have any problem getting approval to be tested. If she is tested and tests negative, then there is no reason for you or your sister to be tested. But if she tests positive, then you would both be approved for testing. In that case, the test would be much simpler because they would know exactly which BRCA mutation they are looking for - the same one that your mother was found to have. If your mother tests positive, then both you and your sister would have a 50% chance of also testing positive.
I really don't know that you and your sister would be approved for BRCA testing - but I'm quite sure that your mother would be approved. By testing your mother first, the province saves money. Either you and your sister don't need to be tested at all (if your mother is negative) or the test is cheaper (because they know the exact mutation to look for). So I'd suggest that you try to convince your mother to see another genetic counsellor. And I have to admit that I'm very surprised that the counsellor 7 years ago didn't approve the testing.
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Thanks Beesie!
I am in Alberta, my mother & sister are in Manitoba. It was a genetic counselor in Manitoba who declined my mother for testing 7-ish years ago. Yes, I definitely know they prefer to test the one with cancer first (as long as they are available). I know here that I can "start" the process, but they would want to test her first. I am seeing a new gyn next month to see if they will refer me, as my primary physician was not sure how to do a referral. Sigh. I am sure my mother will give a swab/vial if they say here they need it from her first.
I will try to see if she will go back (again) in Manitoba. I find it peculiar she is willing to spend a few thousand at Mayo to get tested, but won't even try going back for free in Manitoba, but I think she was just very put off last time and has it VERY in her head that they won't approve her so "what is the point?".
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So here's another facet of this same sort of question - and no one else seems to have an answer for me, so I'll ask it here.
I was diagnosed with IDC two months after my 48th birthday. No family history of any kind of cancer, on either side. Due to my age my insurance company would not cover BRCA testing.
However, I have a 26-year-old daughter. Her birth father's mother died of BC in her 40's, if I remember correctly. All three of his sisters have had BC, at very young ages. I do not know if they have been tested for BRCA mutations (we are no longer close). My daughter, bless her heart, is incredibly large-breasted (38GG, if I remember correctly) which makes BSE challenging.
Would my daughter's family history qualify her for BRCA testing, do you think?
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It is important to note that most BC is not genetic. Just having one relative, even a close relative like a mother, does not put one in the high risk category. When a good number of relatives get BC and OC, including some who get it very young and some who get both BC and OC, then those cancers are most likely genetic. Also, remember that BRCA testing is still in its infancy and has signficant limitations.
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Also, that BRCA is not the only familial syndrome that ups your risk. I noted that she discounted the colon cancer, but one of the syndromes they tested me for was because of colon & ovarian cancer in our family.
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Yes, Melissa, I discounted the colon cancer on paternal side though I recognize it can be a link. He is only one on that side of family with colon cancer, is much older, and his lifestyle is very high risk. None of my paternal side has other cancers at all. Obviously it would be disclosed in counseling so they could assess, but is not something I have particular concerns about.
My maternal side is a very different story. I forgot my mother's cousin also had prostrate cancer in his 30s. However, it is limited in that we do not have many females (I have no aunts, great aunts at all, and no sisters/cousins closer to my age or older). But, the three generations of women before me (as far back as I have details for) have all had bc (well, one strongly suspected) at earlier & earlier ages (with mother under 50, and I should add her "healthy" breast showed concerns in pathology), and we do have strong Icelandic heritage which I know has a known particular mutation. Unfortunately lack of sisters and aunts and such was a reason my mother was turned down before. We cannot create more aunts out of nothing!
Bluesky, I recognize a test might be negative or unknown, and I still won't believe there is not a strong familial/genetic risk that cannot be determined yet and that will guide my decision-making, but testing will at least get me in right direction, or maybe assess ovarian risks. -
It was surprising to me to learn how little BC is actually caused by genetic factors, especially when the message the public often hears is about genetic connections. I don't expect that my BC dx was genetically caused - I'm the lone (cancer) wolf in my family. But for my daughter, that changes significantly when her birth father's family is factored in. I don't know that I would worry about her as much if it weren't for that factor. So - I'll encourage her to be tested, just to be sure, and we shall see where it all leads. Thanks for your input!!
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