Thinking Outside the Lines

A few weeks ago, Emily, one of my fellow genetic counselors, saw an Ashkenazi Jewish young woman and her mother for counseling. The reason for their visit was because the mother has a BRCA mutation, which means that she carries a genetic mutation which dramatically increases her risk to develop breast and ovarian cancer. It also means that each of her children has a 50% risk of inheriting the same mutation.

As in any genetic counseling session, Emily took a detailed family history. Her questioning led her to learn some new facts about the young woman: she was only half Ashkenazi, and she and her husband had already done some carrier screening for common diseases in the Ashkenazi population that could affect offspring a few years earlier, and were found to be genetically ‘compatible.’  Emily recommended that she update her panel, despite her only being half Ashkenazi, since she was not tested for the whole battery of tests that is available today. The thought of updating had never crossed her mind. The young woman also had BRCA testing on that day, which at the time, was more anxiety-provoking since its potential results carried more ramifications to her own health.

About 2 weeks later, the results were in. It turns out she was a carrier for 3 ”Ashkenazi Jewish” diseases that she was not tested for earlier! A triple carrier! Had Emily not taken the time to take the family history and think about things that were beyond what the patient came to talk about, this may have not been picked up. This story has a happy ending –the young woman was negative for the BRCA mutation (phew!) and her husband tested negative for all 3 diseases.  But unfortunately it does not always end this well.

Emily’s story makes me want to remind you that genetic information can be difficult to sort through. That is why I am encouraging you to have a genetic counselor explain it all in English and make sure all the proper testing is ordered.  Thinking outside the lines comes with proper training and therefore, if you have any concerns about your genetic health, I strongly encourage you to seek professional help in this realm. You never know.

Posted on September 20, 2012, in Uncategorized and tagged , , , , , , , . Bookmark the permalink. 7 Comments.

  1. “(phew!)” ???????????????????????????????
    You may want to stop and think before writing something like that.
    Can u imagine how awful someone WITH the BRCA mutation might feel after reading that “phew”????
    It seems insensitive at best. You are writing this as a professional, a genetic counselor. The important message you were trying to convey is now tainted by your inserting, albeit parenthetically, your own emotional reaction.
    I know how relieved a PATIENT must feel after getting the good news. But, you are not the patient and your blog entry was not written from a patient’s perspective.
    Take a more professional approach next time and consider the feelings of carriers and non carriers alike.

    btw- i have metastatic breast cancer (BRCA negative)

    Lauren Schorr

  2. Lauren–you are right. My “phew” was in the context of her being a triple carrier for other things and I was writing for the patient instead of myself. I should not have put my own spin on it. I continue to learn from patients about how to improve in the supportive side of my role as a genetic counselor. Thank you for the feedback.

  3. I disagree with the notion that anything estie rose said was unprofessional. Leaving aside the fact that it is improper to cast aspersions on people without knowing them, there is nothing wrong with a genetic counselor feeling relief for a patient whose screening comes back negative. The fact that not everyone gets good news does not make it insensitive on her part to express happiness for those who get screened and are fortunate enough to say “phew.”. As a genetic counselor she is certainly allowed to feel relief for one of her dear patients.

  4. 1. ‘Phew’ should not have been inserted. It was absolutely inappropriate. I never heard a doctor say ‘phew’ when test results came back negative. It was indeed unprofessional and shows a lack of experience. Perhaps she could have said ‘the patient was relieved to hear…’
    2. It wasn’t her patient. She was writing about a co-worker’s experience and clearly inserting her own feelings.
    3. A professional genetic counselor should be happy for her patients who are negative. But if you’re writing a blog on behalf of the program for jewish genetic health you should be equally sensitive to and supportive of all patients.
    4. Her use of ‘phew’ doesn’t even make sense. Finding out that you have the BRCA mutation before you have cancer is actually good news bc there are steps you can take to prevent it. Knowledge is power. The ‘phew’ in this scenario is that someone can find out before it’s too late to do anything about it. Isn’t that the mission of this program?

  5. Knowledge ABSOLUTELY is power. BRCA testing provides information that is extremely valuable and empowering to many people. It is a wonderful thing to know that someone has a high chance for cancer and be able to do something about it. That’s why this testing is available.

    For this young woman, knowing her status can significantly impact her life and may even save it. She has probably seen many family members go through horrible diagnoses, treatments and likely even death. By pursuing this testing, she is facing her own mortality, which is not something many people do at such a young age.

    Finding out you have a BRCA mutation is not bad news for everyone. Some families have lost many family members to cancer and are relieved to finally have an identified cause. Some people are dying and want the information to protect other family members.

    But maybe for this patient, a negative result was good news, a relief. If she were positive, she likely would have pursued life saving screening and surgeries, but now she doesn’t have to. (At least more than anyone else does.) She can spend her time thinking about planning her family and not her risk of dying of cancer.

    Would I recommend that Estie write “phew” in the patient’s medical record? Certainly not. But this is a blog. And the point is to display that genetic testing is complicated. And you need someone to walk you through it and explain what’s happening. And to focus on one insignificant aspect of this article, and lose the message entirely, is a shame. This story is a genetic counseling success. Not because the patient is negative (and her husband), but because this patient was informed of her risks and helped through the process of understanding this mountain of information.

    A genetic counseling session can be an emotional time. Health care providers are empathic people and often bond with their patients. They are happy when things go well and upset when things go badly. It’s human nature. And why shouldn’t Emily and Estie feel relief when their patient does? If the patient is thinking “phew,” why can’t their genetic counselors think it too?

  6. Well written but you’re missing the point. The point is whether or not they should write it, not think it. Of course they should think it. And they can say whatever they want to the patient. But when writing a blog they should be professional and sensitive to ALL people who may be READING it. The story may have been a genetic counseling success from the counselor’s perspective and the patient’s perspective , but not from the reader’s. yes, it is a shame that with one poor choice of words the message was lost. I hope next time she is more careful.

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