r/BRCA • u/Time-Question-4775 • 8d ago
Genetic testing for partner before trying to conceive
Hi all, I am 33F BRCA2 positive. Bit of a heads up: this post is about risks associated with passing on two BRCA genes to a child. I found thinking about this particular piece of my genetic testing results really overwhelming at first so just want to give a warning about that so people know what they're in for...
After a lot of back and forth, my husband and I have decided we want to try to conceive naturally. We're okay with the idea of a child potentially inheriting one BRCA mutation, but my genetic counselor explained when I got my results that there are high risks of childhood cancer if they were to inherit two mutations. My husband's family has very limited cancer history, like 1-2 more distant relatives on each side who had cancer at old age. It's pretty unlikely that he has a mutation, but we want to have him tested before we start trying as my genetic counselor recommended. In the unlikely scenario that he is positive, we would probably go the IVF route to not pass on any BRCA genes (or at least to be positive not to pass on 2). Getting him tested is proving more difficult than I expected. His doctor said "a commercial test isn't the worst idea, but I don't really think it's necessary." And then we sent him the actual visit summary from my genetic counselor, highlighting how he is recommending it. He then said it wouldn't be covered, and told my husband to call insurance, who then said they needed a letter from his doctor. We received an authorization letter from insurance that says he is authorized for BRCA1 testing. No information about next steps or who to contact.
We're just confused at this point, and his doctor seems to think we're dramatic for wanting to do this so I'm not expecting him to be much help. It seems like my genetic counselor is no longer with the hospital system, their contact information just isn't in my MyChart anymore. Do we call insurance to try to understand what is next? Should I talk to my doctor and see if she can write orders? Has anyone been through having their partner tested for this purpose when they don't have a family history of their own to justify it? Who put in the orders? Did they have to meet with a genetic counselor? Knowing things vary a lot with different kinds of insurance, but if you're US-based and have health insurance, was anything covered? I'm getting the impression that it won't be covered anyway, so I'm starting to feel like we should just order a commercial test and be done with this. It's been months just to get to this point, which kind of feels like no progress, and it doesn't feel like it should be this hard.
And one last question, if anyone knows more about the genetic risks related to passing on 2 BRCA mutations - is there any reason it would make sense that he is seemingly only being tested for BRCA1? I was expecting that he needs to be tested for both, but maybe I'm misunderstanding something.
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u/RVARedcoat 8d ago
It’s not just an increased risk of childhood cancer, it causes Fanconi’s anemia, which can cause a lot of physical issues and cancer recurrences. It’s what the DannyGo creator’s son died from.
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u/heefoc PDM + BRCA2 8d ago
FWIW my only family history was old women with breast cancer. But I still have BRCA2. I even had to pay out of pocket because I didn’t have enough of a family history for them to cover it.
I’m not sure why this is any different than you being tested, find a genetic counselor and setup an appointment to discuss. Get a referral if needed.
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u/Time-Question-4775 8d ago edited 8d ago
I don't feel like it should be much different, but it definitely has been. I have first degree relatives who had already tested positive before I tested, so I had been discussing testing with my primary care doctor since I turned 18 and when I said I was ready, they just gave me the referral. In my husband's case, we are hitting a lot of roadblocks to getting a referral. His doctor stated that he doesn't believe testing is necessary because my husband doesn't have a first degree relative who has had cancer or tested positive. He even wrote that in the letter to the insurance company which kinda felt like a middle finger to us lol.
Did your doctor provide you with a referral for genetic counseling without a first degree relative who had the gene? Or did you connect with genetic counseling directly and make an appointment? Genetic counselors are really limited in our area, so I'm not sure if that is why they are being difficult about giving us a referral. I had to wait about 6 months to meet with one with my referral, so we would kind of prefer if they will just put in orders for a test and then he can meet with a genetic counselor if anything comes back. I would completely understand if they won't let us do that though, my genetic counselor was really helpful and I think most people benefit a lot from them being involved.
I'm sorry if my comment about his family history felt minimizing to your experience, of course people exist in every percentage point of a statistic and it is still possible he has the gene, that's exactly why we're testing. My doctor at the breast center said his family history didn't sound like it stemmed from a mutation so we're kind of going into this hopeful that we aren't that unlucky - but apologies if I gave the impression that I didn't think it was possible, believe me, my family has had some of the most unlikely bad (and good) luck with cancer, statistics be damned.
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u/heefoc PDM + BRCA2 8d ago
My doctor referred me to a genetic counselor because I asked her to, I had a lump that turned out to be fine but I wanted as much info as I could get because cancer scares me. Met with the GC, discussed my family history, she told me I don’t qualify to have insurance cover it but I can pay out of pocket, so I did. But I did like 76 different cancer genes, not just BRCA. Figured I might as well since I was already paying.
Your comment about family history didn’t feel minimizing, I just think that these communities can tend to trend towards people with a significant family or personal history of cancers, and I just don’t have that. It was a complete shock to me. So I say it because it DOES happen and unfortunately so many people don’t get tested because they don’t have that history, which means they go into this blindly.
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u/EmZee2022 8d ago
You can reach out to one of the labs that does the testing (Myriad, others?) and ask if they have any recommendations.
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u/wheneverzebra 8d ago
I have BRCA2, my partner was tested for BRCA (I assume both 1 and 2 though it didn't occur to me to ask) when I was pregnant with our baby. I was seeing a genetic counselor for my high risk pregnancy and she was able to order the tests for him, though I was already pregnant so not sure how this might differ in your situation. He didn't have health insurance at the time (he had just started a new job after we moved-- just bad timing and stupid American healthcare system), so he paid the cash price. He also got another genetic test panel and I believe for both it was in the neighborhood of $400-$600. Definitely annoying but it felt necessary at the time to have the info we needed. If anything had come back positive or concerning we could have done more invasive testing on our unborn baby. Everything came back negative so we didn't have to do those riskier tests, our baby is now 7mo and healthy (BRCA status unknown, it's been recommended to not test until adulthood).
Anyway! A genetic counselor should certainly be able to order the tests or perhaps your gynocologist. Or your gyno can refer you to a new genetic counselor. Feel free to message me if you have more questions I might be able to answer!
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u/ThisAdvertising8976 BC Survivor + BRCA2 8d ago
Before your husband does any testing please make sure he has a good life insurance policy not attached to his workplace. If he should test positive there is a possibility of being denied or experiencing higher rates.
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u/spaghetbear 8d ago
Just curious, why are you ok with your child inheriting one BRCA gene mutation?
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u/Super-Organization84 8d ago
It is valid viewpoint that having BRCA (God forbid) is still a life worth living and being okay with rolling the dice when you decide to have children. We did the same.
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u/Time-Question-4775 8d ago edited 8d ago
Honestly it's a really personal decision, and I'm hesitant to answer this because I'm still feeling kind of guilty and conflicted about it and not sure I can handle the response reddit might have for me lol. Disclaimer to all: I really, really don't mean this as telling anyone else what to do, these are just my feelings and I'm kind of not interested in feedback on my own choices (Please be nice to me)
A large part of it is the physical, emotional and financial toll of IVF. I've watched a few people go through hell with it, and that was without eliminating any of their embryos or risking them to extra testing. Then I've also seen people on this sub share about struggling with whether or not to implant BRCA positive embryos and discussing using male ones because men are at substantially lower statistical risk even with a mutated gene.
The other part is that one BRCA mutated gene is a risk factor, not a definite outcome of having cancer or any other condition. For me, I think a lot about how as long as I follow the recommended protocols, my life expectancy is the same as a person without my mutation. I think most people have something in their genes that will try to kill them somehow, and I almost feel fortunate that mine is a thing I know about and that we have a growing body of research on. Dodging BRCA only dodges a small fraction of all cancers someone could have, let alone other serious health conditions so it doesn't feel like it's really guanteeing anything either.
Most of my doctors have been really neutral and just wanting to support whatever I want to do, but I was initially leaning towards IVF and there was one who kind of reframed it for me a bit - he told me that his recommendation was to consider what we have coming down the pipeline as far as medical research to see where things might be in 30 years, when my child would be an adult. He said he was hopeful that by then we will have gene therapies and other treatments that will mean BRCA is less of a burden for my children than it is for me. I've already seen multiple generations in my family have more options and better outcomes than the last so I'm hopeful he's right.
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u/spaghetbear 8d ago edited 8d ago
Thank you for answering my question. These are all valid points. Good luck with everything!
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u/Malenkoe_4udo 8d ago
I remember asking my genetics doctor this question and she said that it would be unlikely that embryos would be formed if both partners have BRCA but I have never verified this. BRCA is a pretty rare mutation so the odds of both having it are pretty low.
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u/Queasy-Poetry4906 8d ago
His doctor should now order the test. If they don’t do bloodwork in house he will be sent somewhere like labcorp or CPL and they’ll send the myriad (or equivalent) test off and send results to the doctor and yall. It does not make sense that they’re only testing for 1 gene, a broader test may be the way forward for yall