BRCA WTF
May 16, 2018 4:50 PM Subscribe
This is a follow up to the medical situation described here, but you don't need to read that one to understand this. My doctor has said I should get the BRCA genetic test done and is in the process of getting it approved by my insurance. After I left the appointment, my family said it's unnecessary. Which is is it?
I was seeing my brand new OB/GYN for my many menstrual issues. As per usual, he had me fill out a family medical history.
My first cousin (dad's side) had both ovarian cancer and breast cancer well over a decade ago. The breast cancer was identified through genetic testing, and when they did the double mastectomy, they found a couple cancerous cells. She was in her 30's.
My dad had prostate cancer last year and at the time, they did the BCRA tests, and said he did not have cancer genes.
All this info was conveyed to my new OB/GYN, but he said I still needed to get the BRCA test. I figured he knew what he was talking about and I said OK. I spoke to my family after I left the office and they say that's wrong, and since my dad's test was clear, I shouldn't need it. Do I?
YANAD/YANMD
Thanks so much, friends.
I was seeing my brand new OB/GYN for my many menstrual issues. As per usual, he had me fill out a family medical history.
My first cousin (dad's side) had both ovarian cancer and breast cancer well over a decade ago. The breast cancer was identified through genetic testing, and when they did the double mastectomy, they found a couple cancerous cells. She was in her 30's.
My dad had prostate cancer last year and at the time, they did the BCRA tests, and said he did not have cancer genes.
All this info was conveyed to my new OB/GYN, but he said I still needed to get the BRCA test. I figured he knew what he was talking about and I said OK. I spoke to my family after I left the office and they say that's wrong, and since my dad's test was clear, I shouldn't need it. Do I?
YANAD/YANMD
Thanks so much, friends.
Assuming this gets covered by insurance, I'm also curious why your family would suggest not getting a test that literally might save your life with no impact to you except a bit of blood taken.
posted by saeculorum at 4:59 PM on May 16, 2018 [10 favorites]
posted by saeculorum at 4:59 PM on May 16, 2018 [10 favorites]
Saeculorums point aside, given your father's negative result, and I'm assuming no history of breast/ovarian cancer on your mothers side, then statistically there is no reason to believe you are at a higher risk of having the mutation than the average person.
posted by JPD at 5:08 PM on May 16, 2018 [1 favorite]
posted by JPD at 5:08 PM on May 16, 2018 [1 favorite]
I mean, a straightforward answer is that your doctor has not seen your father's test but has seen your report of multiple related cancers in your family. Your doctor can't be sure that the test was done, it was the right test, and that all info given to you is both true and accurate.
If you're an Ashkenazi Jew, the presence is higher than in the standard population so perhaps he could be concerned that it comes from your mother and maybe your family history there is scant?
posted by vunder at 5:12 PM on May 16, 2018 [4 favorites]
If you're an Ashkenazi Jew, the presence is higher than in the standard population so perhaps he could be concerned that it comes from your mother and maybe your family history there is scant?
posted by vunder at 5:12 PM on May 16, 2018 [4 favorites]
Best answer: From cancer.org:
Because harmful BRCA1 and BRCA2 gene mutations are relatively rare in the general population, most experts agree that mutation testing of individuals who do not have cancer should be performed only when the person’s individual or family history suggests the possible presence of a harmful mutation in BRCA1 or BRCA2.
As a scientist working for a company that specializes in genetic testing technology, I'd agree with JPD that statistically, if your dad doesn't have the BRCA genes, and we assume there's no history of cancer/ BRCA mutations on your mom's side then you're unlikely to have it. However, you don't mention any definite knowledge of the presence, or lack thereof, of this gene on your mother's side, so perhaps that lack of information is your doctor's motivation for requesting this test. In addition, menopause increases the risk of cancer due to hormonal changes, so your condition may also be a factor.
You have nothing to lose by finding out this information, if for no other reason than your relatives of future generations might find it useful. Especially if insurance covers this testing.
posted by Everydayville at 5:16 PM on May 16, 2018 [5 favorites]
Because harmful BRCA1 and BRCA2 gene mutations are relatively rare in the general population, most experts agree that mutation testing of individuals who do not have cancer should be performed only when the person’s individual or family history suggests the possible presence of a harmful mutation in BRCA1 or BRCA2.
As a scientist working for a company that specializes in genetic testing technology, I'd agree with JPD that statistically, if your dad doesn't have the BRCA genes, and we assume there's no history of cancer/ BRCA mutations on your mom's side then you're unlikely to have it. However, you don't mention any definite knowledge of the presence, or lack thereof, of this gene on your mother's side, so perhaps that lack of information is your doctor's motivation for requesting this test. In addition, menopause increases the risk of cancer due to hormonal changes, so your condition may also be a factor.
You have nothing to lose by finding out this information, if for no other reason than your relatives of future generations might find it useful. Especially if insurance covers this testing.
posted by Everydayville at 5:16 PM on May 16, 2018 [5 favorites]
Best answer: BRCA testing tells you whether you have genes that predispose you to having some kinds of breast and ovarian cancer. It does not tell you whether you have cancer. The test cannot save your life in any meaningful way. It is just information about your risk of having breast or ovarian cancer.
I had the BRCA testing after I was diagnosed with breast cancer to help me make treatment decisions (e.g., whether to have a lumpectomy, mastectomy, or double mastectomy). My mother had breast cancer in her early 30's, and I was diagnosed at 39. I was negative for the mutations.
If you decide to have the screening, it might be good to think a bit about what you will do and how you will feel about a positive result. Will you want to have more frequent screening? Will you feel pressured to have surgical intervention? Will it make you feel anxious about cancer all the time? I had avoided screening before my diagnosis because I was already having pretty frequent screening and I figured it would just stress me out.
The tricky thing about this kind of testing is that you are learning about your RISK of having a disease, but not whether you ACTUALLY HAVE or WILL HAVE the disease. That makes decision-making based on the results difficult.
posted by jeoc at 5:25 PM on May 16, 2018 [4 favorites]
I had the BRCA testing after I was diagnosed with breast cancer to help me make treatment decisions (e.g., whether to have a lumpectomy, mastectomy, or double mastectomy). My mother had breast cancer in her early 30's, and I was diagnosed at 39. I was negative for the mutations.
If you decide to have the screening, it might be good to think a bit about what you will do and how you will feel about a positive result. Will you want to have more frequent screening? Will you feel pressured to have surgical intervention? Will it make you feel anxious about cancer all the time? I had avoided screening before my diagnosis because I was already having pretty frequent screening and I figured it would just stress me out.
The tricky thing about this kind of testing is that you are learning about your RISK of having a disease, but not whether you ACTUALLY HAVE or WILL HAVE the disease. That makes decision-making based on the results difficult.
posted by jeoc at 5:25 PM on May 16, 2018 [4 favorites]
Can you meet with a genetic counselor to discuss your risk and the pros and cons of testing? I think this is basically what they do, and they could help you come to an informed decision about what kind of testing you want.
I also wondered if you're an Ashkenazi Jew.
posted by ArbitraryAndCapricious at 5:26 PM on May 16, 2018 [6 favorites]
I also wondered if you're an Ashkenazi Jew.
posted by ArbitraryAndCapricious at 5:26 PM on May 16, 2018 [6 favorites]
How long ago did your father get tested? The tests are always improving and they keep finding new mutations. I tested negative about 18 months ago but my sister has just tested positive for a BRCA2 mutation. The genetic counsellors couldn't tell me last week if my test would have included that particular mutation and are getting back to me. If there is not a huge financial cost to you to get tested, I would err on the side of caution and do it.
Good luck to you, it's a very stressful situation.
posted by procrastinator_general at 6:29 PM on May 16, 2018 [2 favorites]
Good luck to you, it's a very stressful situation.
posted by procrastinator_general at 6:29 PM on May 16, 2018 [2 favorites]
Apologies, on reread I see that your father was tested for a mutation known to be in the family (different situation than my sister and I). My understanding is you can't inherit something from your father that he doesn't carry, but if it's just a blood test why not do it for the peace of mind.
posted by procrastinator_general at 6:32 PM on May 16, 2018 [1 favorite]
posted by procrastinator_general at 6:32 PM on May 16, 2018 [1 favorite]
There’s a weird assumption in US culture that more testing is always better, but in breast cancer, that doesn’t consider the very real risks of overtreatment. Knowing you have the gene will result in more screening with an increased risk of false positives and debilitating treatment that will not increase your chance of survival. A lot of women think mammograms saved their lives because a mammogram revealed cancer, but statistically, it is much more likely they received cancer treatment they didn’t need or that didn’t extend their lives. This little film explains it well.
That said, this article seems to list the pros and cons of BRCA screening pretty evenly.
posted by FencingGal at 6:58 PM on May 16, 2018 [4 favorites]
That said, this article seems to list the pros and cons of BRCA screening pretty evenly.
posted by FencingGal at 6:58 PM on May 16, 2018 [4 favorites]
HAVE THE TEST. My best friend is 5 years into ovarian cancer, and is from a *crazy* family where her mom & sister were found to be BRCA positive and didn't bother to tell her. Having this knowledge in advance could have led to her cancer being avoided altogether (via prophylatic surgery, akin to what Angelina Jolie chose to do) or diagnosed earlier. Instead she was diagnosed at Stage IV and it has been a nonstop cancer nightmare since then.
Please, internet stranger, have the test. When it comes to BRCA, it is far, far better to know than not know. Anyone who says otherwise is absurdly ignorant when it comes to the very real risk of dying from ovarian cancer, which is notoriously difficult to find early, and is deadly.
posted by BlahLaLa at 7:47 PM on May 16, 2018 [7 favorites]
Please, internet stranger, have the test. When it comes to BRCA, it is far, far better to know than not know. Anyone who says otherwise is absurdly ignorant when it comes to the very real risk of dying from ovarian cancer, which is notoriously difficult to find early, and is deadly.
posted by BlahLaLa at 7:47 PM on May 16, 2018 [7 favorites]
Is BRCA being used as shorthand for a panel of other genes as well? Genes other than BRCA1/2 are associated with males with pancreatic cancer with or without a concurrent family history of female relatives with breast cancer. Agreeing with checking with a GC who specializes in cancer.
posted by beaning at 9:42 PM on May 16, 2018 [1 favorite]
posted by beaning at 9:42 PM on May 16, 2018 [1 favorite]
Talk to a genetic counselor to help you decide whether or not you want this test.
posted by ocherdraco at 5:25 AM on May 17, 2018 [5 favorites]
posted by ocherdraco at 5:25 AM on May 17, 2018 [5 favorites]
Get it. Knowledge is power.
posted by shew at 5:44 AM on May 17, 2018 [2 favorites]
posted by shew at 5:44 AM on May 17, 2018 [2 favorites]
My mom was diagnosed with breast cancer when she was younger than I am now. Had a double mastectomy and lived another thirty years before it came back and eventually killed her. My half-sister is in remission for it as well (a different type of breast cancer, though). But as a male I couldn't get testing for BRCA1/2 covered by insurance, so (for this and other reasons) I did an Ancestry.com test, downloaded the raw results, and uploaded them to Promethease.
A lot of doctors and professional genetic counselors will tell people to avoid using these commercial kits, fearing they may make rash and uninformed decisions. But there's nothing stopping you from taking the results to a professional and getting proper advice.
posted by Thoughtcrime at 2:31 PM on May 17, 2018
A lot of doctors and professional genetic counselors will tell people to avoid using these commercial kits, fearing they may make rash and uninformed decisions. But there's nothing stopping you from taking the results to a professional and getting proper advice.
posted by Thoughtcrime at 2:31 PM on May 17, 2018
I would recommend you speak to a genetic counselor. I actually just went to see one and it was INCREDIBLY informative.
Two things to keep in mind:
Tests have continually improved, you can now get standard BRCA panel tests or more widespread tests for other genetic mutations. However, when it comes to AJ backgrounds, the BRCA tests have not significantly gotten better in the last 10 years. There are 3 main mutations they know to look for and it really won't change.
No one else has mentioned this yet, but do you have life insurance? If not, you may want to delay the test. While HIPAA compliance will protect your privacy, there is no current policy that prohibits life insurance companies for requiring genetic testing results if you have had them. This can then be used to assess pre-existing conditions. That said, not all insurance companies are asking for this, and some may only ask if you are in a more risky group.
Something to research or consider.
posted by miasma at 8:37 PM on May 17, 2018
Two things to keep in mind:
Tests have continually improved, you can now get standard BRCA panel tests or more widespread tests for other genetic mutations. However, when it comes to AJ backgrounds, the BRCA tests have not significantly gotten better in the last 10 years. There are 3 main mutations they know to look for and it really won't change.
No one else has mentioned this yet, but do you have life insurance? If not, you may want to delay the test. While HIPAA compliance will protect your privacy, there is no current policy that prohibits life insurance companies for requiring genetic testing results if you have had them. This can then be used to assess pre-existing conditions. That said, not all insurance companies are asking for this, and some may only ask if you are in a more risky group.
Something to research or consider.
posted by miasma at 8:37 PM on May 17, 2018
Response by poster: Thanks, all.
I think maybe Vunder has it that my OB/GYN doesn't know me at all, and has no proof of my dad's recent tests. When the office calls to schedule the test, I will reiterate the situation and ask more questions. I can easily provide my dad's test results if they need it. TBH, he was talking about this as he was performing an endometrial biopsy on me, and I told him that most of what he was saying to me was not being processed well because I was in pain. He did not do a great job of taking that into account.
In answer to questions: I'm not an Ashkenazi Jew, so that wasn't it. I don't have kids, nor will I, and my doctor knows this, so the reason is not for future generations. And my family was not saying NOT to get the test; they were just confused as to why it was necessary as my dad's oncologist had told them that his getting the test would benefit his children. He's 83. He didn't need the test for himself. I'm single and not worried about life insurance, but I can see how that would be a issue for many. It's good to think about.
Also, for those in the "Why not?" camp, these were my reasons for not wanting to just go along with it without thinking it through:
1) Unnecessary tests bog down the system. It's going to be a week to get my biopsy results back. My biopsy was supposedly "just a precaution." That means someone else who is really worried about their results has to wait longer for no reason. I'd like not to contribute to that.
2) Unnecessary tests make a profit for giant companies and drive up insurance premiums.
3) Every single thing I have to put through insurance is a risk they'll screw up the billing and I'll spend hours dealing with fixing it and risk paying out of pocket if someone made a mistake. I've had an ER visit, many tests and labs, and 4 doctor visits in the last 2 weeks, and I'm petrified of the billing. Already, I'm seeing claims being denied that shouldn't have been, and I'm going to have to spend time and effort getting them resolved. Ugh.
4) What FencingGirl said about overtesting and the cumulative cost and overstated benefits.
But I'll talk with my doctor again. Thanks so much for opinions and stellar information. I really appreciate it. When I asked this question 2 days ago, I was not thinking very clearly, so thanks for doing the thinking for me!
posted by greermahoney at 10:09 PM on May 17, 2018
I think maybe Vunder has it that my OB/GYN doesn't know me at all, and has no proof of my dad's recent tests. When the office calls to schedule the test, I will reiterate the situation and ask more questions. I can easily provide my dad's test results if they need it. TBH, he was talking about this as he was performing an endometrial biopsy on me, and I told him that most of what he was saying to me was not being processed well because I was in pain. He did not do a great job of taking that into account.
In answer to questions: I'm not an Ashkenazi Jew, so that wasn't it. I don't have kids, nor will I, and my doctor knows this, so the reason is not for future generations. And my family was not saying NOT to get the test; they were just confused as to why it was necessary as my dad's oncologist had told them that his getting the test would benefit his children. He's 83. He didn't need the test for himself. I'm single and not worried about life insurance, but I can see how that would be a issue for many. It's good to think about.
Also, for those in the "Why not?" camp, these were my reasons for not wanting to just go along with it without thinking it through:
1) Unnecessary tests bog down the system. It's going to be a week to get my biopsy results back. My biopsy was supposedly "just a precaution." That means someone else who is really worried about their results has to wait longer for no reason. I'd like not to contribute to that.
2) Unnecessary tests make a profit for giant companies and drive up insurance premiums.
3) Every single thing I have to put through insurance is a risk they'll screw up the billing and I'll spend hours dealing with fixing it and risk paying out of pocket if someone made a mistake. I've had an ER visit, many tests and labs, and 4 doctor visits in the last 2 weeks, and I'm petrified of the billing. Already, I'm seeing claims being denied that shouldn't have been, and I'm going to have to spend time and effort getting them resolved. Ugh.
4) What FencingGirl said about overtesting and the cumulative cost and overstated benefits.
But I'll talk with my doctor again. Thanks so much for opinions and stellar information. I really appreciate it. When I asked this question 2 days ago, I was not thinking very clearly, so thanks for doing the thinking for me!
posted by greermahoney at 10:09 PM on May 17, 2018
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If you are eally concerned about this, get a second opinion... from another doctor.
posted by saeculorum at 4:56 PM on May 16, 2018 [26 favorites]