Guest post by Jane E. Herman
Thanks to the COVID-19 pandemic, we’re all doing things from home that we used to do elsewhere—you know, working, exercising, socializing, “sedering,” and testing for inherited genetic mutations.
Testing for inherited genetic mutations? From home?!
Yes and yes.
JScreen, a national non-profit public health initiative dedicated to preventing Jewish genetic diseases—think prenatal testing for Tay-Sachs, Gaucher Disease, and cystic fibrosis—recently began to offer at-home testing for more than 60 cancer susceptibility genes associated with hereditary risks for certain types of cancers.
Reading the press release about this new program made me think, yet again, about some version of the moot, unanswerable question that forever lives in the back of my mind: If such testing had been available and publicized 20 years ago, could it have changed the trajectory of my family’s life?
You see, nearly 11 years ago, my sister and I sought out genetic counseling and testing after virulent, aggressive breast cancer had taken the life of our mother two months earlier. From the depths of my grief, I vaguely recalled some connection between Jewish women and breast cancer—and neither of us wanted to go through what we’d just watched her endure.
At the time, genetic testing required authorization and a blood sample and was limited to BRCA (an acronym for BReast CAncer) genes. The test searched for known mutations in these tumor suppressor genes that can cause them to malfunction, often leading to certain cancers, including breast cancer (in both men and women); ovarian, pancreatic, and prostate cancer; and melanoma. Although these “broken” genes are considered rare, they occur in the general population at the rate of about one in 300-500 people. Among Ashkenazi Jews (originally from central and eastern Europe and the majority of North America’s Jews), however, these mutations are 10 times more prevalent, affecting one in 40 people—most of whom are unaware of their status as carriers. Indeed, I was one of those oblivious people until August 2010, when the genetic counselor with whom we’d consulted told me my test results revealed the presence of an inherited BRCA2 mutation.
Soon I was running to what felt like endless screenings and medical appointments, researching risk management options, and, yes, still grieving the loss of my mom, who we surmised had died because of the same mutation I now knew coursed through my DNA. Unlike me, though, my mom never knew she carried a defective gene.
Given my age at the time and the difficulty in detecting ovarian cancer early, when a cure may be possible, I quickly opted for preventive surgery to reduce my risk significantly. I made the same decision to manage my increased risk of breast cancer with a second, preventive surgery and complex reconstruction seven months later, but only after a blip on an MRI convinced me I didn’t have the personal risk tolerance for a lifetime of breast surveillance, although it can be a viable option for many mutation carriers.
Without a personal history of cancer, I became a “previvor” after these surgeries, a term applied to individuals with a genetic predisposition to cancer who undergo prophylactic treatments to avoid future cancer diagnoses. More recently, I enrolled in a large clinical study for high-risk individuals and am screened regularly for precancerous pancreatic lesions and early stage pancreatic cancer.
As a previvor, I am committed to raising awareness about BRCA and other genetic mutations, and this work has become my “soapbox issue.” I tell and retell my family’s story in the hope that it might spare even one other family the heartache that comes from not knowing—and encourage people in those families to be proactive about protecting their health and their lives rather than allowing unchecked genetics to dictate their destiny.
JScreen’s CancerGEN test is the newest tool in my toolkit, offering me one more opportunity to climb atop my soapbox. Helping others understand the possibility of a mutation lurking in their family tree and giving them the knowledge necessary to uncover it—before a loved one falls ill or dies—is one way I pay tribute to my mother’s well-lived life and honor her memory. Using a small saliva sample collected at home, the test employs state-of-the-art technology to search for mutations in more than 60 cancer susceptibility genes, including BRCA1, BRCA2, and more recently discovered genes such as PALB2, ATM, CHEK2, and BRIP1, among others. Most important, unlike health data included with some direct-to-consumer and recreational genealogy test results, JScreen’s CancerGEN includes a phone or video consultation with a certified genetic counselor to ensure individuals understand their results.
So, whether or not your Ashkenazi Jewish family has a known history of cancer, genetic testing may be right for you. Check out JScreen’s CancerGEN or consult with a certified genetic counselor, a specialist trained to assess personal cancer risks, order genetic testing, interpret the results, and when necessary, help devise an appropriate risk management plan. OB-GYNs, internists, and other medical professionals may suggest (and can order) testing, but, with all due respect, they are not qualified to interpret genetic test results in a field that moves at lightning speed. If your physician suggests testing, request a referral to a genetic counselor or contact the National Society of Genetic Counselors to find qualified genetic professionals in your area. Whether you test at home with JScreen’s CancerGEN or under the auspices of a genetic counselor, the results literally could save your life or the life of someone you love.
Jane E. Herman is a volunteer with FORCE: Facing Our Risk of Cancer Empowered, a grassroots, national nonprofit organization devoted to providing resources, support, and advocacy to individuals and families affected by hereditary cancer. She is the senior writer at JCC Association of North America in New York, NY.