Monday, May 28, 2007

Four More Breast Cancer Genes, and Nary a Genetic Counselor in Sight

In a season two episode designed to coincide with a pink ribbon, breast cancer awareness campaign, Grey's Anatomy depicted a woman seeking a prophylactic oopherectomy and double mastectomy in reaction to the news she tested positive for BRCA-1 mutation after her mother died from ovarian cancer. Of course, being Grey's Anatomy, the storyline was played for maximum drama - but that doesn't mean we should simply roll our eyes and assume it creative writing at its best. Women do pursue prophylactic double mastectomies after testing positive for BRCA mutations, even though science is still out on the potential medical benefits.

With the news that four more genetic mutations have been linked to breast cancer, we are going to have to seriously consider what it means to have a genetic mutation, to look beyond the lab at the actual impact the geneticization of medicine is having on how patients are both viewed and treated, and consider what appropriate treatment actually means.

6 comments:

Kathryn Hinsch said...

Kelly,
Thanks for the post and engaging us in a discussion on this important health issue. A dear friend of mine just went through this and I wanted to share her experience of a prophylactic double mastectomy:

“When I spoke with my docs, they said the medical benefits were very clear, and that was underlined when my breast cancer was found and they got all of it, despite having had a mammogram 6 weeks prior and a year earlier, and MRIs both 6 months and 12 months prior, and none of these tests found my half-inch DCIS. I have a family history of breast and ovarian cancer, including a father who contracted breast cancer at age 85. On Friday I spent an hour with a women who had a sister die of breast cancer last year, and now another sister has been diagnosed, both in their mid-50’s. She’s evaluating getting the genetic test, and I talked with her about my experiences.”

So clearly, while the science may be unclear, it is often a prudent procedure. But your bigger point, how the geneticization of medicine will change how we think about appropriate treatments (including the therapeutic versus enhancement thicket) is crucial for us all to ponder.

Kathryn

Kelly Hills said...

Yeah, Kathryn - I think the problem with things like prophylactic surgeries in general is that there are always those they work wonders for, and then those that they do not. Right now, there's now clear way to determine who's going to benefit and who will just be rendered sterile, have their self-image radically shifted, etc. And while it's great that your friend felt so comfortable talking to someone else about her experience, I do worry about people making their medical decisions on anecdotes. (And this is obviously a larger issue than an isolated example.)

It's one of those weird things - on the one hand, we want our medical advice to be tempered with actual experience, the very anecdote we can often turn around and shrug off as not being scientific enough to report on. But on the other hand, we want the science to be there to justify the advice, show that it's beneficial, and prevent people from engaging in harmful behaviour on someone's say-so.

It's a conflict, and one that's going to be played out in a lot of people's lives.

Kristi Scott said...

After discussing my mother's 13 year long battle that ended in 2005 with a friend, I found out she had had the double mastectomy. She had a family history of it and they found the BRCA gene mutation in her so she wanted to be pro-active. My mother had a double mastectomy because of her breast cancer. It's been recommended that I too get tested for the genetic deformity so I know if I'm at risk.

After all this, I watched the Grey's Anatomy episode you mentioned Kelly. I have yet to get tested for the gene, I don't know that I've been given a conclusive enough reason to do so, except to worry about the what ifs. Watching my mother go through Breast Cancer 4 times is still not enough for me to test for any of these genes and jump to conclusions over such dramatic procedures. In due time I have hope that the science will produce good reason since I have a daughter. I would like there to be a solution if she or I ever are faced with this.

Reading that there are four more discovered, I think that I will continue to wait, watch and learn to see what develops. The procedures are too drastic to be taken lightly or without concrete scientific reasoning to do so. You are right, that a serious look needs to be taken before women are urged to undergo these procedures too quickly.

Kathryn Hinsch said...

My friend had a few more comments to share about this issue:

When someone gets the genetic test for the BRCA genes, they are also required to get genetic counseling. Additionally, the doctors did a really good job of making sure I was clear on the issues and that I was making my decision, not them. Let’s make sure we don’t anecdotal examples out of context. One of my closest friends did this just before I did and she, like me, did major research, medical, technical, and personal, talking with other women. When others found out I was doing this, they offered names of more women I could have called to talk about this. Doctor’s offices also provide support groups (at one I attended sponsored by my reconstruction surgeon, a women who had had a mastectomy went in the bathroom to show me her breast before reconstruction). In the session that evening, after hearing of what I was planning to do (before it was even know I had cancer), several women who had just had one cancerous breast off, and then later who had the second removed when cancer appeared there, wished that their surgeons had talked with them more thoroughly about prophylactically taking off the other breast. I also attended a day of research and sharing at the local cancer center, where I met a woman who had the same very sophisticated surgery I will have, and who took me in the ladies room for show and tell. Once you start on this road, all sorts of resources, people, and possibilities open up. It’s really hard to imagine doing this unless you are faced with the odds of an 85% chance of breast cancer and a 28% chance of ovarian cancer, which is even more insidious and deadly. I’m grateful I had the courage to do this – I’d be much worse off if I hadn’t and then the cancer wasn’t discovered for several years, by which time it could have spread. Self-image would be the least of my worries if I hadn’t had my mastectomies.

*******************
I think it is important for us to consider personal narratives as we ponder big picture bioethics policy questions. Not as a one-off but to stay connected to the emotional impact of these life/death issues. I'm really saying this as a reminder to myself - I have a tendency to think in more abstract terms - so I appreciate my friend's willingness to share her experience.

Kristi Scott said...

I am impressed with the amount of friendly resources your friend experienced while making this decision, and for sharing them. I forget about the importance of the anecdotal evidence, since it's been part of the curriculum that it's not as important. Or rather to be taken as seriously as the facts. I argued this point in class. I complained about not considering the anecdotal in regards to economic decisions and then fail to see I'm not considering them in other areas. It is a serious decision to be made, and science, like economics, can only decide/supply some of the insight/answers. I'm still weary of testing, maybe it's from not wanting to know either way just yet, but I will continue to listen.

Good discussion to start Kelly.

Kelly Hills said...

Kathryn, I think it's great that your friend is both so willing to talk about her experience, and that she had such resources available to her. But unfortunately, a lot of people aren't required to see a genetic counselor in order to have a BRCA (or other) genetic tests - BRCA, Huntingtons, and others are available by basic mail in services, through doc offices or not. And there simply aren't enough genetic counselors to counsel everyone having these tests done.

Part of the reason I make this argument is because I've been rereading Glenn McGee's book "Beyond Genetics"; I've been refreshing myself on genetic discrimination, or the potential for it. He weaves the narrative of a friend through chapter four of the book, "bugs in the geneware: genetic testing", and her experience with the double mascectomy was, in many ways, the exact opposite of what your friend experienced.

I started to type out some relevant quotes from the chapter, but realized I'd end up typing out most of the chapter - so I'll just say that anyone interested in this should really pick it up and at least read chapter four. It presents another side of the story.

And thanks, Kristi. I waiver on anecdotes, myself. I think they're valuable for telling stories, and that narratives are an important part of our lives that we tend to ignore or forget, in medicine. At the same time, though, I worry about anecdotes being taken as empirical evidence - the great example of this would be everyone reporting, in the fall, on ambien being used to wake up a patient in some sort of persistent vegetative/minimally conscious state. Suddenly, everyone is demanding that for their loved ones in these unconscious/coma/brain dead/whatever states - even though there's been little to no research, and just anecdote.

It's a tough line to balance - I think it's one of the reasons I enjoy the Health Affairs column (and book from the columns) Narrative Matters - at least it gives us a space to consider how the narrative affects us.