The Genetic Method

31 Mar

Little shout out to The Band with my title there…

Remember how I got tested to find out if my cancer was the result of a genetic mutation? Well, I got my results back and the news is good – no mutations in my BRCA1 or BRCA2 genes. The genetic counselor and I expected as much after going through my family tree (we made a pedigree med students!!). I have essentially no family history that would indicate a genetic mutation, but we’d figured we’d better do the test, just to be sure. For those who care, I had the BRACAnalysis test, including 5-site rearrangement panel, but did not have the BRACAnalysis Rearrangement Test (BART). We didn’t do the BART because it was so unlikely that I had the mutation in the first place, additional tests weren’t necessary.

A few facts about BRCA1 and BRCA2. These are tumor suppressor genes. See, there’s two ways to cause out-of-control cell proliferation; you can jam down the accelerator of cell division, or you can cut the brakes. The BRCAs are brakes and mine are still intact. A woman who inherits a harmful mutation in one of these genes is 5 times more likely to develop breast cancer than a woman without said mutation. 1.4% of women in the general population will be diagnosed with ovarian cancer in their lifetime as opposed to the 15 – 40% of women with a BRCA mutation who will be. BRCA mutation account for 5 – 10% of breast cancers and 10 – 15% of ovarian cancers in white woman in the United States. BRCA mutations are more common among certain populations, for example among people of Ashkenazi Jewish descent. There are other mutations that are sometimes responsible for breast/ovarian cancers, but the BRCA mutation are most often the culprit.

So, I’m lucky I don’t have any mutations in these genes. Things would be much more complicated had my test come back positive. Genetic testing is a slippery subject. There’s a lot of people who choose not to be tested and I can really see why. There also seems to be a burgeoning push for full genome sequencing for everyone. Think about it. Do you want to know? Do you really want to be burdened with such certain uncertainty? The increased, potentially unnecessary, medical intervention that may accompany the results of these tests? Would you tell your family if your genome revealed some sleeping demon? Should your doctor tell your family? What if you felt like a ticking time bomb for your whole life…and nothing ever happened? Our knowledge about what the results of these tests mean is changing every day. Every HOUR!

Privacy measures around genetic testing are also still evolving. Do you want your insurance company to know that you tested positive for some genetic mutation that may or may not increase your risk for some potential condition in the unknown future? Insurance companies make their money by betting that you’ll pay them more money then they’ll spend on you – if the odds are dramatically changed by the results of one of these tests should that person be required to pay more since it’s X amount more likely they’ll be effected by something? I’ll bet I can guess what the insurance companies might say. We do have the Genetic Information Nondiscrimination Act (GINA) which offers some protection. GINA “generally will prohibit discrimination in health coverage and employment on the basis of genetic information.” It also “generally prohibits health insurers or health plan administrators from requesting or requiring genetic information of an individual or the individual’s family members, or using it for decisions regarding coverage, rates, or preexisting conditions. The law also prohibits most employers from using genetic information for hiring, firing, or promotion decisions, and for any decisions regarding terms of employment.” So that sounds good. BUT. This does not apply to life insurance, disability insurance or long-term care insurance. Nor does it apply to companies with fewer than 15 employees. And lastly, GINA doesn’t “prohibit health insurers or health plan administrators from obtaining and using genetic test results in making health insurance payment determinations.” And I mean, payment is the important part of this whole arrangement, right?

So, say you want to get the test, but don’t want your insurance company involved. You decide to pay out of pocket for it. The testing I had done costs over $1000. And there is only ONE lab in the country that does it. The test, a very simple test any lab could do, has been patented by Myriad Genetic Laboratories. They are the ONLY ones who can do it. For now. This patent has been challenged and invalidated, but Myriad is currently appealing the decision.  Myriad has also done some controversial direct to consumer marketing for their genetic testing.

If my test had come back positive I would have had a few options. I could have opted to have heightened screening for breast cancer. I would have started getting frequent mammograms and routine MRIs basically now, very young. This doesn’t sound so bad, but these screening procedure do have false positives relatively often and that means more, serious, unnecessary and frightening medical interventions. Some women who have a positive BRCA test opt to have a full, prophylactic mastectomy. This is considered a more radical move, but hey, total peace of mind. I’m pretty sure that I would have opted for increased screening, I like my boobs, I’d miss ’em like hell, but it’s hard to say.

Alright. End rant. I have yet to fully make up my mind about genetic screening and testing. Clearly I chose to have the test and am glad I did, but the issue is very complicated and always changing. It’s also an issue we all will have to think about, especially any future healthcare providers. There’s lots of questions to ask ourselves about what we want the healthcare we receive and give to be about.

In other news. I’m feeling good. Stronger and stronger. My eyebrows fell ALL the way out, which always makes me think of this guy:

I remember watching Pink Floyd’s The Wall on like, VH1 Movies That Rock or something when I was a kid and the image of this dude messily shaving off his eyebrows really stuck with me. Ick. My eyebrows are now growing back, give ’em a few weeks and I think we’ll be back at capacity.

I also can’t get enough of the Born This Way video these days.

Love it. My favorite part is the zombie/skeletons.

But, I have to say, Gaga, those severe bangs always make me think of that lady from Say Yes to the Dress.

No? Is it just me?

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3 Responses to “The Genetic Method”

  1. Barbara Call March 31, 2011 at 12:13 pm #

    Hi Honey: I love the medical/ethical/genetic stuff; but I prefer a good mystery for myself, as I tend to obcess ~ you know at my last “real” job, we did genetic testing on all those (the very sick) who were going to go for the full monty (chelation, etc) and we used to keep the files locked up and after that ruling that genetics couldn’t be used against you, the file drawer was left unlocked…I had John’s genetics done (that family is a mess) and used the info to flog him into quitting smoking ~ it didn’t work. I am so glad your eyebrows are growing and your wierd cells cease to proliferate!! Hope to see you in the summer,,,sending all the love in the world to you

  2. self-medicating girl March 31, 2011 at 12:21 pm #

    Congratulations on your results! I’m really happy for you!

    I’m also considering genetic testing even though I also don’t have a strong family history. My super surgeon suggested that it might be a good idea because I’m so young. It’s also helluva expensive here in South Africa and after reading your post I see there are more things to think about than just the cost of the test.

    self-medicating girl ( previously miss t )

  3. Marisa April 18, 2011 at 10:43 pm #

    i just read the few entries i hadn’t read yet on the blog and i had to say that i LOVE “born this way” (the song and video… hated the former at first but now am obsessed as i am w/most things gaga) but more importantly i LOVE say yes to the dress and dianne (that particular consultant’s name)!!! i am kind of proud/ashamed that i know her name haha. also as always i learned something from reading your blog colleen… thanks for that!

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