Thursday, April 28, 2011

How to hear the news

Where were you when you learned about your BRCA mutation?  Were you nestled safely inside the office of a genetic counselor who could answer your every question with your husband by your side or did you receive a telephone call with the results while you were driving a car? Perhaps you were at work when the call came with the news:  "you tested positive."

Does does it matter where and how we are told about genetic test results? And does the answer to that question differ depending on whether the results are negative rather than positive?

Earlier this week I read a blog that started me thinking about these issues because the woman had been told her negative test results by email when she was at work:
I received an email from Dr. Stoutenburg Wednesday which read, “I just received your BRCA 1 and 2 results. I am sure that you are eager for the result. No mutation was detected. Thus, this cancer was not caused by an inherited abnormality in either of these genes. This is a good thing! We don’t need to consider preventative mastectomies and don’t need to consider testing other family members.”
She was clearly relieved by this news and the fact that it came by in the middle of her work day thrilled her.  She was happy to get that electronic missive.  But what if the news had been different? In the book Pretty Is What Changes, author Jessica Queller describes  how she responded when the bad news of a negative test result that was sprung on her via a phone call at work. She describes shock, anxiety, distraction, bewilderment and denial.  Following the phone call that advised her of the positive test results she received the written report, which she shoved into a drawer and ignored for several months.  At the time, she had no idea about the level of risks associated with testing positive, despite the fact that her mother had both breast and ovarian cancer.  The doctor who tested her did no genetic counseling prior to her test and likewise did nothing to explain the results when he communicated them on the phone.  She was on her own.  Fortunately she is a smart woman who figured much out through her own research and she was smart enough to go in search of doctors who could provide better guidance than the one who performed her test.

I received my results on the phone also but my experience was vastly different as I was tested by a doctor with whom I a had a long relationship and I had hours of counseling prior to even deciding to be tested.  I know now that the best way to communicate genetic test results is by a genetic counselor and in person but at the time, if I had known that my doctor had the results and that he would not tell them to me over the phone I would have been dismayed.

I went to Dr. Mandel to have blood drawn to find out if I shared Mom’s genetic mutation. Because we knew the specific mutation I might have inherited, I had what is called a “Single Site Analysis”—where the lab only looks for the single known family mutation rather than searching for all of the thousands of potential mutations on both BRCA genes. Single site analysis is far less expensive than the full test and the results are available much more quickly. Since I worried about how BRCA testing might affect my health insurance, I paid for the test myself. 
Dr. Mandel and I talked about my chances of having Mom’s BRCA mutation. He explained that I have two copies of each BRCA gene, one from each of my parents. Mom’s mutation is on one of her two copies of the BRCA2 gene, which means I have a 50/50 chance of inheriting her gene with the mutation. We talked about what I might do if my test were to come back positive. My mouth said I would probably have mastectomies and I needed to know more about the different reconstruction options. But even as I said this, I simply could not wrap my mind around the idea of cutting off my beautiful, healthy breasts. The logical part of my brain said if my breasts were going to give me cancer, they should go. The emotional part of my brain screamed BUT NOT ANYTIME SOON! Dr. Mandel and I talked for more than an hour but my memory of the conversation is fuzzy. I remember my hands shaking. When I left he hugged me and promised to call as soon as he had the results.

I grew up in Missouri and my parents, my brother, and my grandmother still live there. Each summer I take my kids back to visit. I was back home in Missouri when Dr. Mandel tracked me down to tell me the results: “Your test came back positive.” 
I did have the same BRCA2 mutation as my mother. Dr. Mandel did not let me off the phone until I assured him that I was OK and that I would make an appointment to come in with my husband for an extended consultation upon my return to LA. Although the news was not unexpected, it still took a few minutes to sink in. I told my mom immediately and she looked crushed. She had so hoped I would be spared. 
Back in LA I went to see Dr. Mandel. I sat in his office and looked at the familiar photos of his wife and children, and some babies he had delivered. Even though I already knew the bad news, it was no easier to look at the harsh reality of the words on the page when he handed me my test results. I had lived for many years with the fear that I would get breast cancer in my early forties, as my mother had. But seeing the words “POSITIVE FOR A DELETERIOUS MUTATION” on paper almost made my heart stop. Dr. Mandel told me that these test results meant that my risk of getting breast cancer could be as high as 84 percent by age seventy, my risk for ovarian cancer as high as 27 percent by age seventy. Getting breast cancer just like my mother did was more than hypothetical—it was likely.
Excerpt from Chapter 1 of Positive Results: Making the Best Decisions When You're at High Risk for Breast or Ovarian Cancer.

As as Outreach Coordinator for FORCE, Facing Our Risk of Cancer Empowered, I hear a lot of stories about genetic testing experiences.  Although my conversations are far from scientific research I have learned that women who have genetic counseling invariably feel more in control of the situation. Those who don't feel lost and adrift in addition to be overwhelmed by the jaw dropping cancer risk statistics that they face.

My friend Teri blogged about her experience of being tested by her gynecologist, who had never before done a BRCA test and had no clue what to do when she tested positive:
Fifty-two days after I initially had my blood drawn for this test, one of the office staff at Dr. M’s office called me to let me know my results were in. With a sympathetic expression she told me over the phone that I tested positive for a deleterious mutation. I was BRCA1 positive. . . . A few minutes later, I pulled up outside the office, went in and was handed the report by one of the office staff. She smiled at me reassuringly and told me they had the name of an oncologist that they could refer me to if I was interested, and that was about it. I didn’t actually get the name of the oncologist though. Through my frightened and confused haze, I had forgotten to ask. In many ways, I felt like I had been given a diagnosis of cancer, rather than the diagnosis of a predisposition to cancer. My local gynecologist’s office had never dealt with this sort of thing before, this BRCA mutation. They had no procedures on what to do next. It really wasn’t their forte. I was on my own to figure out the next steps.
Fortunately, one of Teri's next steps was a consult with Dr. Gordon and she now realizes that her doctor really did it all wrong.  Genetic counseling really should be part of the package when you decide to test for genetic mutations.  And either calling or mailing test results without any interpretation of their meaning is almost criminal.

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