Cancer and gene testing: The dark knowledge that can save lives

LOS ANGELES — Five months ago, I took a test for something called the BRCA genetic mutation, which is often referred to as the breast cancer gene. My mother had fought off breast cancer and she waged a ferocious battle against a second cancer, ovarian, when it ambushed her body seven years later. The cancer won.

After my mother’s death, doctors and other cancer-savvy friends suggested that my sister and I should, at some point, be genetically tested for the faulty BRCA gene. I was 34 when I took it. I tested positive.

BRCA mutations are known to cause early-onset cancer, and statistics show that having the mutation means it’s almost certain that I will develop breast cancer at some point in my life. It also means that I have a greatly increased chance of developing ovarian cancer. I share this gene with my mother, but I now have something my mother did not: the warning that, in all likelihood, cancer will be coming for me.

With tests like these, modern science acts as a crystal ball – warning us of dark events that may come. We seek such knowledge so we can take measures to protect against illness.

Unfortunately the test for the BRCA gene is just a decade old, and doctors can offer no definitive guidance to women diagnosed with a genetic predisposition to cancer. In the case of BRCA mutations, science has outpaced our understanding of what to do with the data. Because the test is unaccompanied by any clear medical recommendations, it doesn’t provide solace so much as open a Pandora’s box.

My mother never took the test. In 1993, when she was 51, the test did not yet exist. As far as she knew, she was a paragon of health when doctors delivered the crushing news that the barely discernible spot on her mammogram was breast cancer and had already spread to five lymph nodes.

My mother was among the first generation of women that balanced family and career. She lived her life freely, choosing her spouse, her profession and the timing of her children according to the natural rhythms of her life. Then she was blindsided by cancer.

I see my life as the negative image of my mother’s. I’m 35, accomplished in my profession, vital, healthy – yet weighed down by the burdensome information of my genetic legacy. It’s akin to Eve taking a bite of the apple. Once you have the knowledge, there’s no turning back.

Although I’m currently cancer-free, the knowledge of my genetic predisposition requires me to squarely face excruciating life choices – yet with inexact information. Breast cancer genetic screening is so new that doctors don’t really know what to tell women with BRCA mutations except to be vigilant about increased surveillance.

Preventative chemotherapy has proved effective for women who carry the BRCA2 mutation, but it does not work for carriers of the BRCA1 mutation (the one I have.) The surest way to prevent breast and ovarian cancers is to have your breasts and ovaries removed. Recent studies show that undergoing these radical surgeries will reduce the risk of inherited breast and ovarian cancers by 90 percent.

However, I’m single, dating, and I want to have a family. I won’t consider having my ovaries removed until after I’ve had children (thankfully the risk of ovarian cancer is slighter than that of breast cancer). But what about a double mastectomy?

Having witnessed the death-grip of cancer, I’m not inclined to wait around for it to strike, especially since inexact surveillance machines do not always catch it at an early stage. Aside from drastically interrupting my life, how might a double mastectomy adversely affect issues of sexuality? My romantic future? How early in the dating process do I reveal the information about my faulty gene, with all its ramifications?

My sister is 31. She’s not certain whether she will take the test. Knowing that cancer is often a genetic legacy, I sought out the knowledge that would permit me to make informed decisions. Knowing that there is a 50 percent chance she did not inherit the gene, my sister is not yet willing to give up the luxury that our mother had – to live her life freely, unaffected by the shadow of illness.

I empathize with my sister’s point of view but in spite of the burden, I believe that women like me are fortunate to have the knowledge, imperfect as it is, of the likelihood of cancer – to know what our mothers did not.

I can say without question that my mother would have traded those 51 years of innocence for the dark knowledge that could have potentially saved her life. My mother would have done anything to live.


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