Thank you, Elizabeth Wurtzel

My maternal grandmother died of breast cancer in her 50s. I was four, so I didn’t really get to know her. The generation in between us has escaped her fate thus far, but I have a pathogenic mutation of the BRCA2 gene, and perhaps she did too. I also have another gene which may or may not confer extra risk for breast cancer (and is also more prevalent among Ashkenazi Jews), and all told I am apparently at a 60–70% risk for breast cancer.

Due to these personal cancer risks, I opted for risk-reducing surgeries. I am currently recovering from a preventative double mastectomy, having just prior recovered from a bilateral salpingo-oophorectomy. In other words, I have had my ovaries, fallopian tubes, and breasts removed to reduce my high risks of ovarian and breast cancers conferred by my BRCA2 mutation.

The BRCA2 gene was discovered the 1990s. I didn’t learn of it then. I learned of it in 2020, when I learned that Elizabeth Wurtzel died. In the 1990s, I first learned about Elizabeth Wurtzel. I had read her book Prozac Nation for a class, and then she came to speak at Vassar. After reading her book and hearing her speak, I was pretty sure she and I would not have been fabulous friends if we had gone to college together, but I very much appreciated her willingness to share her experiences of depression. I went on to study depression, and her work continues to influence my understanding of what the lived experience of the disorder can be like.

Fast forward to January 2020. I saw in the New York Times that Elizabeth Wurtzel had died. I was alarmed and saddened. She wasn’t that much older than I was, and I felt like I knew her a little. Not only had I read her very personal memoir and seen her speak, but I ended up making her memoir an option for an assignment in the Psychological Distress and Disorder class I taught at Goucher, where it was a popular choice, every semester — which meant I read a lot of students’ thoughts about her book and her description of depression.

I read her obituary, and then I went back and read her 2015 opinion piece, in which she said that all women of Ashkenazi descent should be able to get tested for the BRCA genes. For women with these genes, she recommended considering a preventative mastectomy, a surgery that can significantly reduce the breast cancer risk and be life-saving. Elizabeth Wurtzel found out that she was BRCA positive after her diagnosis of breast cancer. Her opinion piece prompted me to investigate cancer genetic testing. I opted to have genetic testing that included of panel of cancer susceptibility genes, and well, here I am. The pathology results from both the salpingo-oophorectomy and mastectomy were clear, so, ah, her suggestion may have saved my life.

There’s a lot more to be said on this subject (and don’t worry, I’m going to say some of it, ha ha). First, how freaking amazing is science? As I understand it, the BRCA2 gene is a tumor-suppressing gene. When patients have a pathogenic mutation in BRCA2, the BRCA protein does not properly function, and cellular DNA-repair does not occur adequately. Consequently, people with BRCA2 pathogenic mutations are more likely to develop cancer. The fact that we can identify who is at risk for BRCA cancers in advance is amazing, right? And then do something to act preventatively, either surgery or early detection through screening with both mammogram and breast MRI? Not that these surgeries are nothing. The mastectomy, in particular, is not nothing. But what a gift. And I say that as I type from my bed, where I lie propped up and “bound” with an ace bandage and gauze, in some amount of discomfort, with a pillow in between my laptop and my drains, which are tucked into the pockets of a pajama shirt lent to me by my friend who gave me just the nudge I needed to test (“Dara… just do it.).

I need to insert a little more information here, because it’s what I do. I have learned A LOT about BRCA in the last month. In the words of someone with BRCA on one of my Facebook groups: I have “researched the hell out of this thing.” In the process, I learned that the BRCA genes are not the only genes that confer a higher risk for cancer(s). The cancer genetic panels can have over 80–100 genes. Panel genetic testing is relatively new and started in 2013. For those who had negative testing for BRCA1/2 only, you can now have expanded panel testing. There are 13 genes associated with an increased risk of breast cancer and they include: ATM, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, STK11, BARD1, RAD51C, RAD51D, and TP53. There are additional hereditary cancer syndromes that affect the risk of non-breast and non-gynecologic cancers and may influence cancer screening for colorectal, melanoma and/or pancreatic cancer. Pathogenic mutations in cancer genes affect malignancy risks in both females and males. Even the BRCA genes have implications for people born male, as well as those born female. And, while Ashkenazi Jewish ancestry sometimes feels like the gift that keeps on giving,[1] it’s not just us. According to the National Comprehensive Cancer Network, “founder mutations” in cancer genes seem to be enriched in people of Polish, Icelandic, French Canadian, Spanish, Mexican, Central and South American, Bahamian, Brazilian, Hungarian, and Dutch ancestry, and we are still learning more about populations of Asian, African, and Middle Eastern origin. The identification of a pathogenic mutation in a cancer gene can inform family planning decisions. Genetic testing is not limited to just cancer genes and can be performed to assess other genetic vulnerabilities. Overwhelmed yet?

I’m not saying everyone should get every genetic test there is — primary care is not recommending whole genome testing and a lot of genetic findings do not influence care. In addition, we know that there are genetic counselor workforce shortages and these providers are the backbone of helping patients and others in healthcare to interpret genetic findings. Also, in the U.S. and globally, not everyone has access to testing, the information on what their results mean, or the care they would need — a situation I very much hope changes in the future with continued advocacy (research is ongoing — if you would like to be a part of it, consider participating in the eMERGE study or the All of Us research program). At present, there are some conditions about which we can’t do anything and the knowledge of these conditions at an individual level may cause more harm than benefit. In addition, how much we want to know about our own medical future and what interventions we may decide to take varies amongst individuals and across cultures — it’s not a one-size-fits-all kind of thing.

Recognizing that many decisions are personal, I do feel like it would be nice for folx to have the basic information to decide if they want to get testing done. For example, I’d love for people to know it’s possible to find out if they are at an increased risk for a condition by doing a blood or saliva test. Primary care doctors could introduce this topic and refer to genetic counselors for more discussion if patients are interested.

Not everyone will opt to get tested, and if they are tested and learn they harbor a pathogenic BRCA mutation, not everyone will opt for a mastectomy. The choices that follow receipt of genetic information are complicated, which is why I keep emphasizing genetic counseling. What an amazing profession. My own genetic counselor is fabulous and has been a prime resource in my journey. I have had about a zillion privileges in this journey — it is now my responsibility to make sure that as many people as possible have as many choices as possible in this realm, surgical and otherwise, and to provide support along the way.

And so, if you’re still reading, thank you for journeying with me while I share my experience with BRCA and spread the word a bit about cancer genetic testing. Like Elizabeth Wurtzel, I share my story to bring awareness to the rapidly evolving field of cancer genetics and hope that my words may impact the care of others. I also write with gratitude to all who supported me in this process. This is me, hoping that more people will get to see their grandchildren grow up.

[1] Elizabeth Wurtzel comments on being Jewish and not being easily defeated, and I will say, the timing of learning I had this gene just before the Hamas attacks of October 7 (in the context of many attacks on Jews throughout history) along with something I saw online about how many ancestors each of us has (something like 2,048 Great-great-great-great-great-great-great-great-great grandparents who have to have survived in order for each of us to be here) made me feel not like I was necessarily super unlucky to have this genetic vulnerability, but rather like it was sort of amazing I was ever born. So yeah, we survive some stuff.

With special thanks to Dr. Brittany Bychovsky for her feedback and review of content.