Another timely guest-post from a regular readers and commenters mischief manager and baraqiel.
mm: When I was 36, I was diagnosed with early-stage breast cancer (ductal carcinoma in situ, for those of you who know the terminology). I was extremely lucky, as it was found on a baseline mammogram. Because it was such an early stage, I didn’t need chemo or radiation; I just had a mastectomy. Because the carcinoma cells were diffuse through a large area of the breast, lumpectomy wasn’t an option.
Fast-forward 20 years. I now have a daughter who is a young adult. She has a fibroadenoma in her breast, which she would like to have removed. (Wiki defines them as small, solid, rubbery, noncancerous, harmless lumps composed of fibrous and glandular tissue. They are extremely common, especially in women with large and/or dense breasts.) So she goes to a surgeon, who suggests to her that both she and I be tested for brca1, the gene that is associated with breast cancer, especially in women of Ashkenazi Jewish ethnicity. He says that I should be tested because if I am, the test will be less expensive for my daughter.
So…what do we do? I thought about it and decided that I do not want to be tested, for a number of reasons. First, I already know I have a history, so the test won’t tell me anything new. Second, the test is probably expensive and may well not be covered by insurance. Third, any test results will become part of my permanent medical record, which can have all kinds of unexpected ramifications in terms of getting and keeping health insurance and also in terms of getting jobs. Not only are these concerns valid for me, they’re even more important for my daughter, who will be entering the job market after grad school.
So I declined to be tested, even though my daughter would like to know her status. To me, the negatives far outweigh the positives, for both of us. Harpies and friends, have you experienced this dilemma? What would you have done in my place? Have you had genetic testing of any sort? How did you make your decision, either for or against?
baraqiel: From my perspective, I find myself in an unpleasant bind. On the one hand, if I got the testing done and it came back negative, it would be a relief: I would know that my mother’s medical history wouldn’t mean I have to be more worried than any other woman my age. On the other hand, the baseline of worry and care necessary when it comes to breast cancer is still quite high. Even if I knew that I didn’t have to worry about inheriting my mother’s cancer specifically, I would still have to worry about just getting cancer like any other woman. Without knowing the test results, I can’t get complacent. This adds some stress and worry to my life, but also pushes me — and my doctors — to be vigilant.
The surgeon that I consulted with regarding my fibroadenoma has recommended a very aggressive screening regimen — MRIs and mammograms alternating every six months starting when I’m about 25. While that sounds like a hassle, early detection is *the* most important part of a successful cancer treatment. Given my family history, if I can get that sort of screening schedule approved by insurance without having the “black mark” of the genetic mutation on my record, it’s perhaps the best of both worlds. Not knowing the test results might be the only way for me to avoid complacency on the one hand and a fatalistic resignation on the other. Although I still think that the fact that my genes could be used against me in terms of hiring is unjust, what I’ve started to take away from this experience is how important it is that I myself am vigilant and take responsibility when it comes to my health, even in the face of uncertainty.
If I recall, the new health care law puts restrictions on the ability of health insurance providers to use genetic test results as determining factors for insurance eligibility. But I can see the dilemma. It would be nice to know, but the knowledge does not actually gain you much. With your history, the risks for your daughter are increased, anyway. Also, if you have the test and it’s negative, that doesn’t help much, because you already know you have a history, and the absence of BRCA-1 doesn’t mean you won’t get breast cancer.
This is one of those occasions where science and medicine know just enough to be dangerous, but not enough to give you any definitive assurances.
Ah — this might be unclear from the above but the last paragraph is from my perspective, not MM’s. I think I just put it in a different font as opposed to putting it explicitly in text.
Thanks, b, I clarified. Sorry for the confusion before; I think formatting was lost in the transfer to WordPress. Don’t drink and blog, kids!
My mother was diagnosed in 1991 and died in 1994. My sister and I were both teenagers, and have kept an eye on our own health, with regular checkups and monthly self exams. I found a lump in my self exam in March, went to the doctor in April, and had it removed in May (also fibroadenoma). I told my sister, and it turns out she had one removed in April. Both of our doctors suggested genetic testing, since my sister has 2 daughters, with the rationale that the knowledge will help her manage their care.
Here’s the deal. Mom had breast cancer, and both of her children have produced fibroadenomae. To our minds, we don’t need special genetic testing – we’ve already had it.
How my sister will handle this with her daughters I don’t know. They’re still young, so she may wait until they’re old enough to make those decisions themselves. For me, I figured even before this past spring that genetic testing couldn’t tell me anything I don’t already know. I already know the odds are for me developing cancer, and genetic testing will at best clarify the numbers. Knowing if I have a 65% chance or a 70% chance of developing cancer doesn’t change anything about my self-care. All it will do is increase my stress level. Add to that insurance issues (which I already have because of other medical issues), and it’s reduced to an expensive, unhelpful, possibly harmful, worry-inducing test for me.
A few things of note: women who have the BRCA gene have a *dramatically* higher rate of breast and ovarian cancer (depending on who you ask, around 60-80% of women with the mutation will develop cancer). That said, BRCA is rare and only associated with a small fraction of cancers. However, if you don’t have first degree relatives with breast or ovarian cancer, the chances of you having BRCA are pretty low. (I’m not positive, but I don’t think DCIS counts towards this.)
BRCA testing is also controlled by a single company, Myriad Genetics (yay for gene patents!), so there’s still some uncertainty around what certain genetic variations mean since Myriad doesn’t know and restricts the research that others can do.
If you live in the US, the Genetic Information Nondiscrimination Act protects you from discrimination with regards to insurance and employment.
There’s also some debate about DCIS and how it relates to diagnosis rates and prognoses.
Having recently had a fibroadenoma biopsied, there’s really no good answer regarding testing or treatment. I wasn’t wild about having the biopsy done (my twin sister had fibroadenoma, the physical nature of the lump definitely suggested fibroadenoma), but my doctors played the “Well, you never know..” card, so I had the biopsy done, which just confirmed that it was a small fibroadenoma and left me with a pretty awesome bruise on my breast.
I always knew dealing with statistics and health risks was really hard, but I didn’t realize how complicated it was until I had to deal with it myself. Good luck!
First my disclaimer: I worked extensively on a massive sociology study which looked at attitudes towards testing, how people felt about their test results, how it affected their treatment decisions, how it changed their family relationships, etc. Some of that material has been published, some has not. I have also been through the whole fibroadenoma thing, although I don’t have a family history of breast cancer.
I suppose my first question is this: will knowing whether or not you have the gene change your behavior in any meaningful way? baraqiel,your physician has already recommended a very aggressive screening regimen. Will having data about the gene affect whether you take his advice? Would having a second opinion on alternate screening regimens change your behavior? Would you keep doing those things even what you know remains the same: you have a family history and the nature of it?
My second question is this: would knowing affect your relationship with each other? (One of the things I was involved in studying was blame and guilt and how women and their daughters how both tested positive dealt with it.) Obviously this is not a factor in every familial relationship, but for some people positive test results were extremely stressful.
Did the surgeon offer you the option of speaking to a genetic counselor? They might be able to offer you some more information.
@evilfizz: I’m very glad to hear that someone is tracking the responses and real world results of these tests. Very, very glad.
To answer your questions:
No, for me, knowing won’t make any difference to me. Once you’ve been diagnosed, that’s all you will ever need to know.
I have long felt guilty about passing this most undesirable legacy on to my daughter. I recognize that it’s not my fault that I had breast cancer, but I feel badly about it nonetheless. As far as I know, it hasn’t affected our relationship. We’re pretty close.
On a personal note, my recommended follow up to my fibroadenoma was an annual ultrasound. (I’m too young for mammograms and MRIs were never mentioned). I have no idea where those recommendations come from, but clearly they’re all over the map.
On a personal note, my recommended follow up to my fibroadenoma was an annual ultrasound. The facility won’t actually do mammograms for women under 30 because they’re unreliable.
Does a test for the gene really count against you any more than the family history? I mean, the family history is part of your medical records too, right? Since having the gene is no guarantee of getting cancer, and Baraqiel can be assumed to have a 50% shot of having the gene, I’m just not sure an insurer would think it was worse. I don’t know anything about how they actually decide these things though. I could be totally wrong.
I have a whole host of nasty family history that I’m a little sad I’ve probably passed on to my kids. Likewise, my stepfamily has a horrible medical history which, (in some ways luckily) includes fertility issues. Of my big group of cousins, only two of them are genetically related to my grandmother, whose family has the heart problems, cancer, and sugar issues. When my father was dying, he confessed that he was glad my sister and I couldn’t inherit his heart defect. He was my father in every way that mattered, and sometimes I’ve regretted having that extra (obnoxious) dad out there, but I’m just as glad to have skipped the heart defect too, and I’m eternally grateful that, when it was killing him, he was free of worrying about it hurting us too.
I, too, would have a little bit of concern about the genetic test following my medical record, but, if my insurance covered the test, laziness would be the only thing stopping me. When you think about it you already have that black mark on your record; your family has a history of breast cancer that you have presumably told your doctor who has presumably put that note on your record. A super cheap insurance company would probably treat that the same as they would a genetic test.
Perhaps this is something that happens more when you’re buying insurance for yourself or you’re older, but I have never been asked for any sort of medical record by an employer nor by my new insurance company. I’m wondering if this really follows people around as much as we worry it does. Then again, I’m healthy (so far as I know) so I, personally, would have no compelling reason to make sure my medical record moved on.
Or what Av0gadro said.
I don’t trust either employers or health insurance companies. Since I don’t know what kind of reaction a genetic marker is likely to elicit. Employers are always looking for ways to cut their benefits expenses, and with health insurance as costly as it is, I can’t really blame them (who came up with this stupid system of employer-provided health insurance anyhow?). And none of us has any reason to trust our health insurance providers. So under these circumstances, when we can’t benefit by getting the information, but we do stand a chance of being harmed, I see no reason to get the test unless it’s anonymous.
I have a comment stuck in moderation, but
if you live in the US, the Genetic Information Nondiscrimination Act protects you from discrimination with regards to insurance and employment.
Thanks, Fashionably Evil, I was going to post about the GINA. And, prior to its passage, most of the states had some kind of genetic nondiscrimination laws (http://tinyurl.com/3yw33b4). I’m not well-versed enough in the topic to know whether abuses of the kind we fear still happened (or, are happening). But lawmakers have worked to prevent such things.
I know the federal health reform legislation includes genetic counseling about BRAC1 as one of the services to be covered with no copay (for new plans as of last month; existing plans not until 2014, I think?). Though the really expensive test isn’t covered….but I’m looking for bright spots. At least it gives (some) women (with insurance) the opportunity to be fully informed without additional cost.
I’m also interested in the broader question: would you ask for genetic testing or undergo it under any other circumstances?
Genetic testing is a really difficult decision to make – and I really don’t know what decision I would make if placed in a similar situation.
That said, the Sydney Morning Herald had a couple of articles about DNA testing here in Australia, where the situation is slightly different, and citizens are not solely reliant on employer provided and/or self funded health insurance for health care. Some of the issues MM and baraqiel, plus other harpies have raised are mentioned in the articles.
What is most interesting is that once you have a DNA test, you maybe required to disclose those results.
http://www.smh.com.au/lifestyle/lifematters/you-bet-your-life-health-insurers-cheap-dna-test-could-prove-costly-20100214-nzkq.html
AND
http://www.smh.com.au/news/business/money/the-dna-of-life-insurance/2010/03/02/1267291861874.html?page=fullpage#contentSwap1
Maternal grandmother: Dead at 68 after 10 years of battling breast cancer. Maternal aunt: Masectomy at 54. Maternal cousin: Double masectomy at 37.
Thankfully my mother’s still in the clear, but we’ve all refused testing because while it would be interesting to know, we’re pretty sure that there are uninformed, unscrupulous people out there who would use the information against us. Personally, in the current health and political climate, the ONLY time I would seek genetic testing would be for preventable conditions. As of yet, there’s no 100% surefire way to prevent hereditary cancers, so why worry even more about the situation–the presence of the gene still doesn’t guarantee cancer development, and family history has already given a headsup–if you can’t keep it from happening? I think the best you can do is be diligent about your screenings in order to catch it early.
Of course, I should probably practice what I preach; I’m pushing 28, so I should find out if my insurance will help with screenings even though I’m under 30.
I’m also interested in the broader question: would you ask for genetic testing or undergo it under any other circumstances?
Personally, I wouldn’t, unless I thought it was going to make some sort of meaningful difference in terms of how I conducted myself or helped me decide about a range of medical options. For example, if cancer with a particular genetic component responds particularly well (or particularly poorly) to a certain type of treatment, I’d consider getting tested as part of my treatment decisions.
I would also distinguish between genetic tests which give you risk factors as opposed to a diagnosis. The BRCA genes definitely raise the likelihood of a diagnosis*, but it’s not the sort of certainty you see with, for example, Huntington’s. I think I’d also approach the situation differently if, for example, my husband and I were both carriers of something like Tay Sachs. However, even allowing for all of those scenarios, I still don’t think I would. (And it’s quite the privilege to be able to speculate.)
*It’s worth pointing out that while BRCA genes are usually talked about in terms of breast cancer, those with the gene also have an elevated risk of other types of cancer, especially ovarian.