‘If I Was at Risk, I’d Rather Know’: Our Readers’ Genetic Testing Stories
BY ELLEN WEXLER | November 6, 2017
In our last issue, we wrote about genetic diseases that affect those of Jewish ancestry. We also asked our readers to share their experiences with genetic testing. They told us about the anticipation, worry and—hopefully—relief involved in the process. Here’s a selection of their responses.
I was diagnosed with breast cancer in 1990 at age 41. The following year my mother was diagnosed with breast cancer. I made aliyah in 2004. I saw an oncologist at Hadassah Hospital who asked if I had been tested for BRCA; I told her I couldn’t afford to have it done in the U.S., but I was told that the BRCA testing was fully covered by my insurance here in Israel. I was tested and my result was negative. Years later, one of my daughters was at urgent care and they had a notice that Shaare Zedeck Hospital was testing women for the BRCA gene—she was tested and her results came back positive. I went back to my oncologist at Hadassah and told her that a mistake must have been made with my BRCA test. The oncologist arranged for me to get retested, along with two of my other daughters and my husband. It turned out that my husband was BRCA positive as well as another daughter and one of our sons. My husband has three daughters from his first marriage—two have been tested; one was negative and one was positive. One of our daughters elected to have a double mastectomy in 2014. In June of 2017 she was diagnosed with bilateral breast cancer (yes, after having a mastectomy). She is presently completing her chemotherapy and will soon begin radiation.
I was in a Terem waiting room with someone who needed an X-ray and was asked if I would be willing to participate in some research that Hadassah was doing on the BRCA mutations. I agreed and two different people warned me that I might receive information that would be worrying or upsetting. My feeling was that, if I was at risk, I would rather know about it and alert my daughters to the risk. They did the test and weeks later, after I had forgotten about it, I received a note saying that I tested negative. It was a relief.
I have always been aware that my paternal grandmother and great grandmother both died of breast cancer in their 40s. Then, when a 43-year-old colleague was diagnosed with breast cancer, she had genetic testing and learned that she did not have the gene mutation. I learned from her about a genetic testing program at our local hospital in Salem, Oregon. That’s when I decided to have the test. Given my family history and my Ashkenazic background, my doctor referred me to a genetic counselor for screening for the test. I completed paperwork describing family medical history and background and the counselor recommended the test, which came back negative.
In April 2014, I had a blood test which showed that I was positive for the BRCA1 gene mutation. I chose to have a double mastectomy, which was done in September 2015. My daughter, who is 25, tested negative for any mutations.
I was waiting for a routine mammogram when a woman approached me and asked whether I was prepared to be tested as part of a hospital research group. I agreed and filled out a form, and she took a swab from the inside of my cheek. I had no reason to expect to be a possible carrier of the mutation, but as one can’t tell for sure without testing, I appreciated the opportunity. For a year or so after receiving the (negative) result, I was asked to respond to a series of questions, which I did.
I had mastectomies and treatments (so far successful) in 1992, 1994 and 2008. My mother had a mastectomy in her 50s and another in her 70s. When I got tested in 2008 for BRCA1 and BRCA2, the results were negative.
Upon making aliyah, a prerequisite to post-cancer follow-up with the surgeon was to be tested. With National Health plan approval, I went to Jerusalem’s Shaarei Zedek Hospital for BRCA history, testing and counseling. I did not test positive. They also asked to test my husband, Carl Jacobs, who had stronger history than I and still did not test positive. As an engagement gift to each of our sons, we told them we were not passing on the BRCA mutation to them and that, if needed, our DNA record was at Shaarei Zedek.
—Anita I. Jacobs
The testing and results were handled in a very professional manner. I have a degree in biology, so I may have been more comfortable with the process. I had a lumpectomy followed by radiation treatment and chose not to take tamoxifen or aromatase inhibitors, which have serious side effects. I have had two oncologists concur with my choice.
My physician was participating in a familial cancer research project that involved testing for many genetic mutations. First I took a brief survey, mostly involving questions about family history. One of the questions asked if I were of Ashkenazi heritage. Checking yes to that automatically gave me eligibility for the testing (fully paid for by the grant.) I received the test results a few weeks later and was negative for BRCA1, BRCA2 and 23 other genetic mutations.