The Little-Known Genetic Test All Ashkenazi Jewish Women Should Take
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By Ilyse Steiner September 14, 2016
I used to brag about my genes. The women in my family didn’t get grey hair until their 50’s, had very few wrinkles due to olive skin tone, and were plagued by no major illnesses, except for high cholesterol that was controlled via statins. The women in my mother’s maternal line lived into their 90’s. My grandma died at 91 from dementia, which was not a good way to end her days, but she had lived alone after my grandfather’s death at 76 and continued to work, drive and play cards until she was 89. She babysat for my kids when they were infants, and I was thrilled to see another generation blessed with knowing their great-grandma. My mother’s grandmothers both lived into their 90’s as well. One always supplied me with a lunch bag of candy and gum, had a thick Polish accent and good sense of humor. The other taught me how to play Casino and baked delicious rugelach. When she passed, I inherited her wedding ring. It is a wide gold band with a single pearl. I wore the ring during my sons’ bar mitzvahs, so I have pictures with her, my grandma and I each wearing the ring. My great-great grandmother was living on the Austro-Hungarian border and was 16 when Lincoln was shot, or so goes the family story. She lived into her 90’s, passing away in Chicago in 1946 after emigrating to the U.S. with 5 children at the turn of the last century. My mother was an infant at the time. I have a funeral program written in Yiddish and German from my great-great-great grandmother who died in Hungary. She died at 88 in 1898. While she didn’t die over 90, it was in 1898! Can you even imagine?
Unfortunately, the longevity ended with my mom, who died in 2014 of Multiple Myeloma at 68. Her healthy, active lifestyle and clean living were no match for cancer. She was hearty and strong, until she was not.
Since then, my comfort level has faded. I am all too aware of genetic mutations, environmental influences and lifestyle choices that experts say contribute to cancer, which is why I recently had a genetic consultation to determine if genetic testing was appropriate for breast and ovarian cancer. Although I have no direct maternal history of either of these cancers (my mom’s blood cancer was deemed “bad luck” by the medical profession), some of my cousins dating back to those five children of my great-great-grandma have not fared so well. In several of my great-grandma’s sibling progeny, the BRCA 1 and 2 mutations are present. It’s an inheritance far worse than wide hips or high cholesterol. During an annual physical this year, my doctor recommended a consultation because, “why not?” she shrugged. “You’d want to know one way or the other, right?” she said. I wasn’t sure.
When I was pregnant with my first son, there was no question that my husband and I would be tested for Tay-Sachs. Tay-Sachs is a recessive genetic disorder that destroys nerve cells and mental and physical abilities in infants usually resulting in death by age four. Tay-Sachs is found in 1 out of 3,600 in the Ashkenazi, Jewish community. We were both of Ashkenazi, Jewish stock and there was no question we would be tested to determine if we had the genetic marker. According to Susan G. Komen website, the prevalence of the BRCA1/2 genes are in 8-10% of the BRCA1 and 1% of the BRCA2 gene. At some point, genetic testing for pre-menopausal Ashkenazi women, as well as other ethnic groups, should be administered as easily as the Tay-Sachs. Once it becomes the norm, it will alert women so they can make appropriate choices with their bodies and perhaps save lives.
I booked the appointment three months in advance (their calendar fills up) and was sent paperwork to list my family’s medical history. In preparation for the consultation, I read Siddartha Mukerjee’s The Gene, which was a wonderful, approachable history of the gene from Mendel’s pea pods to gene therapy and all the horrifying, thrilling and hopeful parts in between. Mukerjee breaks down complicated scientific principles and structures so even the un-scientific, life myself, could understand the material.
Next, I completed paperwork detailing my family’s medical health as thoroughly as possible. I also gave them a copy of another one of my cousin’s genetic test results. Combining my cousin’s test results with a fairly complete family tree/Punnett square, there was a full picture of breast cancer on my maternal line.
After months of anticipation, the day came for my consultation. While I had a statistically low likelihood of having the mutation, it was recommended I take the test, especially since they recommend that all Ashkenazi Jews take the test. The doctor explained how I would not be penalized on health insurance premiums for having been screened but that it could affect future life insurance purchases. He explained that due to advancement in gene study and reduction in costs, he expects within 10 years this test would become commonplace. As common as the gestational diabetes test is for pregnant women, the BRCA mutation test could become a regular, preventative test in pre-menopausal Jewish as well as African-American women.
After the consultation ended, the genetic assistant handed me a plastic bag with two empty vials to take to the lab and then return to the genetic doctor’s office. For genetic screening, my local hospital does not facilitate the blood test, and it is shipped to a lab in Maryland. I would find out the results in two weeks.
Friends obviously ask immediately upon hearing this what I plan to do if I am positive. They then proceed to tell me what they would do in the same situation. I credit Angelina Jolie for this openness. Due to her positive BRCA gene results, she opted to have her breasts and ovaries removed. She then wrote about it in two Op-Ed pieces for the The New York Times. I commend her for her openness and for sharing her vulnerability, but let’s face it. Money is no object for the Pitt family. I have to wonder what a single mother or person of substantially less wealth than Angelina would do in this situation. I must admit that Angelina looks great post op…you would never know anything was cut off or scooped out. But I have to wonder how the healthcare community would respond to increased surgical procedures if the BRCA test becomes more frequent.
After nearly four weeks, my doctor’s office informed me that I am negative for the BRCA genes. Although the doctor and I both expected these results, it is a relief to be, as his assistant put it, “a larger part of the general population.” There are no external medical procedures I need to endure. I just need to continue to be mindful of my body and continue to care for it, and to be grateful for the women in my family and for having known them and for being a part of them. I also am grateful to my husband who attended the meeting with me and is my constant support and strength and to my sons who miss their grandmother deeply and who hold her in their hearts.
Hopefully, the BRCA test will become commonplace among African American and Ashkenazi Jewish women within the next 10 years as my physician predicted. Hopefully, the healthcare system will be able to operate thoroughly and effectively in the event that more women are diagnosed with the BRCA gene. Even more importantly, hopefully, there will be a cure for Breast Cancer and Ovarian Cancer sooner than later.
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