Risky business

A story in today’s New York Times addresses the uncertainty of what to do with the results of several genetic tests. Since genetic testing points to the risk of disease or disorder, but typically not its inevitability, having access to positive test results can create its own host of problems.


Remove a body part that might be the site of a future malignancy?

Ramp up surveillance to ensure the prompt detection of suspicious symptoms?

Urge blood relatives to seek their own answers regarding genetic risk?

Ten years ago, following my second diagnosis of breast cancer, my oncologist recommended that I be tested for BRCA1 and BRCA2. Bruce and I headed to UAB’s Genetics Center, where I had my blood drawn to send to the one lab in the Northeast that could unlock this particular genetic mystery.

A few days passed, and I called the lab to cancel the test. The reasons for my change of mind had everything to do with the issues mentioned in the NYT‘s article. I’d been told that three results were possible:
* testing positive for BRCA1 or BRCA2, suggesting an increased risk of developing breast and/or ovarian cancer
* testing negative for BRCA1 or BRCA2, eliminating them–but not other as-yet unidentifiable genetic glitches–from my profile as a survivor
* testing ambiguity, a result that suggests some type of genetic irregularity that is indeterminate

The way I saw it, the only clear finding would be the discovery of one of the two BRCA genes. Bruce and I had a hard time wrapping our brains around the idea that a “positive” genetic conclusion would be the only outcome that offered information of any use. Even then, the information addressed the risk, not the certainty, of another run-in with cancer down the line for me and possibly our daughters.

Recently, my oncologist of ten years moved back to the lab to pursue research. I’ve been assigned a new oncologist, and he is encouraging me to undergo genetic testing. Celia and Helena are older now, so the information could be of potential use to them and the decisions they make about their bodies.

The phone number for scheduling an appointment at the genetics lab sits on my dresser, where I put it more than four months ago after my initial consult with my oncologist. I haven’t yet reached a decision about following through.

On a side note, Dr. Mary-Claire King, who’s mentioned in the article as one of the scientists who discovered the BRCA1 gene, will be the featured speaker at a HudsonAlpha event I’ll be attending in Huntsville, AL in November. The Alabama Project will be gracing the walls as Dr. King offers her thoughts on genetics and risk in 2014.


2 thoughts on “Risky business

  1. I am a 25 year survivor and am still thinking about this question of genetic testing. As you imply, one must remain vigilant whether you test positive or not. I am not a proponent of unnecessary surgeries. However, I do plan to visit an oncologist this year and hear what she has to say. I am doing this because I am now 65 and the incidence of any cancer is greater with age. I am a nurse and a professor and I know this. Ovarian cancer worries me and I don’t think my ovaries are doing much right now.
    Congratulations on your 10 year survivorship!

    I also have a blog about a book in progress with my co-writer Kathy, a nurse practitioner in Radiation Oncology. It’s deluca2014.com. related to life after breast cancer. We welcome you if interested.

  2. Thank you for your thoughts! I will definitely check out your blog/book in progress.

    While genetic testing for BRCA1 and BRCA2 was encouraged for me ten years ago, I’d been diagnosed 11 years earlier with Triple-negative breast cancer. I’m a 21-year survivor! That was 1993, and there wasn’t any push, really, to consider the influence of genes (other than family history) in looking forward and making decisions about prevention of future cancers.

    My thinking–much influenced by my training as a rhetorician!–is that our culture encourages magic-bullet thinking. Genetics are one piece of a very complicated puzzle, and it’s the “complicated” part of the equation that keeps me from taking the next step.

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