The (F)Utility of Genetic Counseling: A Rant In Two Parts

Part 1:

Just in case you thought the Angry Mutant was going soft in her old age, I thought I'd come back around to the original purpose of this blog, i.e., arbitrary rants at fate, the universe, doctors etc. . . Today's victim of choice: certified genetics counselors, or "CGC"s.

In case you are wondering if you should pursue genetic testing for a BRCA mutation, perhaps my experiences on this psychedelic road trip, as described in this blog, may serve as a cautionary tale.  Despite the widespread belief that "genetic counseling" is some sort of panacea that will save us all from winding up with information about ourselves that we are not prepared to handle, I'm here to tell you that "genetic counseling", in its current form, is factually informative at best, and shilling for Myriad at worst, but it is certainly NOT "counseling" as we colloquially understand the term.  It most certainly will NOT assist you in obtaining the self-understanding necessary to making the decision about whether you should have testing and if you do have testing, it will not certainly not assist you in obtaining the self-understanding necessary to know what to do with that information.  If the totality of this blog, in all of its redundant and circular ruminations and aggravations, has any coherence, it stands for the proposition that dealing with information about your genes is likely to be a long, hard slog that you may have to endure over months or even possibly years. 

I hasten to add that the genetic counseling that I had was top shelf at a major cancer center that is supposedly one of the best in the country at this stuff.  And this is certainly NOT intended as a personal attack on the woman who did my counseling.  Indeed Y was a very caring, sensitive and knowledgeable person and I am certain that the content of my counseling session was well above professional standards.  The problem precisely lies in the content itself.  Prior to my test, Y spent over an hour with me.   But she did most of the talking and most of what she said can be best described as a "data dump".  She shared with me all kinds of statistics and BRCA arcana ranging from the current controversy over whether BRCA women should use HRT following oophorectomy to the statistical risks of breast cancer after a woman has a prophylactic mastectomy. 

The risk statistics are so imprecise that they are practically meaningless.  To wit:  The estimated lifetime ovarian cancer risk for a woman who is BRCA1+ (like me) ranges from 20% to 65%, so doctors tend to split the baby and call it at 45%.  So which is it?  Does it even fucking matter since for non-mutants the lifetime risk if about 1.5%? Are numbers like this supposed to be useful in trying to make a rational decision about how likely it is that I will die of a terrible disease?  Trust me - THEY ARE NOT.

But back to my original point.  All of this data dumping is academically interesting but BEFORE I had tested positive for the mutation, it was all rather abstract.  The problem with data dumping is that the process of throwing out dozens of facts distracts from the most salient facts.  And all facts are NOT created equal.   Y could have saved us both a whole lot of time (and me a whole lot of misery) if she had just emphasized ONE fact, and here it is:

IF YOU TEST POSITIVE FOR A BRCA MUTATION AND YOU ARE OVER THE AGE OF 35, YOU WILL BE UNDER TREMENDOUS PRESSURE TO HAVE YOUR OVARIES REMOVED ASAP.  IF YOU ARE NOT PREPARED TO HAVE YOUR OVARIES REMOVED (AS IN NOW), YOU MAY WISH TO RECONSIDER GENETIC TESTING AT THIS TIME.

Of course during genetic counseling oophorectomy is mentioned.  However, the genetic counselor kinda throws it out there with a certain caginess.  Somewhere in the middle of the data dump the genetics counselor will say something like "if you test positive for a BRCA mutation, you will be offered the option of oophorectomy."  Well that doesn't sound too bad does it?

Do want sprinkles on top of your ice cream cone? They're optional.

What they don't explicitly tell you is that (i) the other options suck, (ii) your doctor will scare you shitless until you agree to this "option" and (iii) you will be probably be so scared shitless yourself that you'll feel like there really isn't any other option. 

The upshot of all of this is that if you all you want to do is "surveillance", you don't need a positive genetic test.  Most high risk surveillance programs for women will accept patients based on family history alone and that history is usually enough to get the insurance companies to pay.  In my view, the only thing a genetic test is useful for is if you really do want to go the full surgical route. 

But it is important to understand that in and of itself, the test result will not help you make the decision about what to DO if you haven't already made it. 

In other words, you should have your decision tree firmly in hand and be prepared to execute on it before you let them stick that needle in your arm in the first place.

Comments

[Teri Smieja]

Dee - I'm so sorry that your genetic consult was so frustrating for you. I had mine many months ago and left feeling so much better about things. Maybe it's just a different perspective. I was also HIGHLY encouraged to have an oopherectomy and the PBM. They were very informative, very caring & sympathetic, and definitely told me to think about things and let me know that it was still MY decision, but my genetic counselers did lean strongly in the direction of encouraging the surgeries.. I think I'm older than you (I'll be 39 in Oct), and I've had 2 children, AND ovarian cancer runs rampant in my family. So for me, it was an easy choice to make, comparitivily speaking anyway. Sorry that you are not getting the answers that you want. Hope that you can find some peace with all of this soon.

Teri Smieja (http://myblip.wordpress.com)

[Dee]

Teri, Thank you for your comment. FYI, I am actually older than you (almost 41), have three kids (don't want anymore) and yes, sadly, we've got lots of ovarian cancer (and breast cancer) in my family too, although no one has gotten sick before their mid-50's, although I don't know if that makes any difference in my risk factors. The genetic counselor that I spoke to was a very kind and caring person too. I really do not mean to make this about any personal attacks on any individuals. My objection is to the content of the counseling - you can't simultaneously "strongly encourage" something with boatloads of fear, combined with a lack of alternatives, and then claim that this is a "choice" and call it "counseling". (More on this score in Part 2).

As for the elusive peace that you hope for me, I sincerely appreciate the sentiment but I find my anger to be of greater legitimacy and utility these days. I may have all of these surgeries too but I will never accept this as a reasonable solution to the problem of suseptibility genes. These surgeries are just an ad hoc approach because of the failure of modern gynecological medicine to figure out what to do for women besides performing the same hysterectomies that they've been doing for decades. And as a mother of three daughters, I will let every doctor that has the misfortune to cross my path know that I think that this is primitive and barbaric so that 20 - 30 years from now, if and when my daughters have to deal with this shit, there may be other solutions out there for them besides voluntarily having their healthy organs removed to prevent diseases they may never get.

[Cara]

Hi Dee - this was a great post to read, though I don't necessarily agree with all of your sentiments. It may be because of my age (I am a young 'un at 24, got my test result at 23), but I find that knowing about my BRCA test results really did change my view of the situation and my decisions. Knowing now allows me to look more to BRCA-specific news and clinical trials on drugs, and I can make decisions on WHAT preventative actions I want to take based on how those actions are shown to specifically affect people in our genetic situation.

I do agree with your sentiment about pressure to get surgeries, which I feel even though I am not yet 35. I think anyone would feel that pressure, if they'd like to avoid their chances of getting cancer. You may think that surgeries are barbaric - but what else do we have right now? I guess I am in a different place than you - I am optimistic that there will be future discoveries that raise new options, rather than angry about the only options we have right now. Maybe when I'm 30 and getting ever closer to actually having the surgery, I'll think differently, but now that's how I'm looking at it, and I feel that my healthcare providers, including genetic counselors, have shared the same hopeful encouragement.

Despite my comment, I really appreciate your post and I love reading other women's experiences that are different from my own to get new perspectives on how this mutation manifests itself in all kinds of people. Best wishes!

[Dee]

Hi Cara,

Thank you for your comment. You are very honest and very brave to have to face all of this at 24! I really don't want to alienate the entire BRCA community with my rants - for the most part everyone else who is facing these decisions is brave and highly supportive. Nevertheless, I started this blog to explain how I feel - and NO, fuck it, BRCA fucking sucks, sugery sucks, menopause at 40 sucks, prophylactic mastectomy sucks and on and on and on. Cancer sucks too. And it's okay to be angry. And it's okay to challenge doctors. And it's okay to assert one's bodily integrity by saying "no" to things one doesn't want done to oneself. I'm not going to be a "la-di-da" Polyanna about any of this. But I really do hope that time will be your friend in a way that it does not seem to be for me. Amen to more options in the near future.

[Teri Smieja]

Hey -sorry, I never realized that you responded to my comment until I just popped over to see if you'd updated your blog lately. Anyway, I agree that surgeries being our best option right now SUCKS! It sucks big time, but for right now, for me anyway, it's the best choice I can think of. I hope so much that by the time your daughters are old enough to worry about it maybe Olaparib or one of the other PARP drugs will be FDA approved and working 100%. But it does stink, and it's absolutely NOT fair that we have to go through these things. I do understand your anger, but I guess that I got past most of my 'anger' feelings towards it a few months back. Now I just drift back and forth between confidence in what I'm doing a fear about what I'm doing.

[Teri Smieja]

Dee - also, regarding what you said to Cara, above - I sort of laugh nervously and feel like a fraud when anyone refers to me as 'brave' - I'm anything BUT brave! In fact I'm scared shitless!It's fear that is driving my decision to have surgeries. Fear of getting cancer and dyingf. Not all of my blog entries are Pollyanna and happy happy joy joy either. I think if anyone's are like that, then they aren't sharing the full spectrum of their feelings. What you are feeling is totally normal. Anger, fear, sadness, all of those things are totally normal feelings to have. It's a lot like going through the grieving process. You really aren't alone in how you feel, I promise you that. >

[Jill]

Well, our CGC (my sister with breast cancer and mine) told us we couldn't possibly have the gene, even though our mother died of breast cancer at 53, since my sister's postmenopausal breast cancer isn't consistent with BRCA mutations. Our other sister insisted that we all get tested, for the sake of her daughter (I have only sons, and yes, I know they can get breast cancer, too, but I went through with testing not for them, but just to shut my sister up, since the CGC already said we DIDN'T HAVE IT)--So here we are, me and cancersister are indeed BRCA-2 mutants,noncancersister is not, and I'm mad as hell at everybody!! CS and I are scheduled (separately) for what I choose to call "being spayed". She, of course, already had the horrendous mastectomy (which I nursed her through--she unmarried and childless, me just glad I didn't have to go through that barbarism). So what right do I have to be mad? Well, I've almost emptied the nest after 28 years of mothering 5 sons, and as my whole body heads south at an alarming rate, I thought I'd have maybe a few decent years before the major deterioration, but noooo-- And I don't know, maybe if I was "supposed" to get cancer before 40 and didn't, maybe I'm not going to, and this is totally unnecessary. Or maybe I'm to die of a heart attack at 56 like my father did, and what a waste of time and medical resources, fighting this other thing? I am actually glad that my 29 year old niece doesn't have to confront all of this. But as for me, I haven't come around to feeling grateful for the "opportunity" to get hacked up--Didn't the tv shows of my youth promise that by the time I grew up, we'd be able to be frozen if we got a disease, then be woken up when a cure was found? I'll take that option, please.

Thanks for letting me join the rant. I think I can sleep now.

[Brenda]

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