"It was the best decision I've ever made," says Jordyn Harris, 27. She isn't talking about her school or career choices, but about the preventative double-mastectomy she had several years ago. While the surgery had its challenges, Harris has no regrets: "This was my opportunity to have the power to do something," she said.
When Harris was 20, genetic testing showed that she had a BRCA gene mutation. The BRCA gene (short for BReast CAncer) can have several mutations that indicate a person has a higher risk for breast cancer (in both women and men), ovarian cancer, prostate cancer, pancreatic cancer, and melanoma (a form of skin cancer). One in 40 people of Ashkenazi Jewish descent carries a BRCA mutation.
While most cancers are not hereditary, the Jewish community faces specific challenges when it comes to education, information, and access to resources regarding BRCA and hereditary cancers. Understanding these challenges is what Jason Rothstein, director of The Norton & Elaine Sarnoff Center for Jewish Genetics-a supporting foundation of JUF and supported in part by the Michael Reese Health Trust-hopes to accomplish with a community survey that the Sarnoff Center will release later this month.
"We already provide community education about hereditary cancers, but we want to learn more about experiences people are having now," Rothstein said, "and what are the barriers when it comes to seeking testing, counseling, and care? This survey will help us understand where we can add the most value beyond what we offer today."
Harris, Sivan Schondorf, and Iris Bass all chose to be screened for a BRCA mutation after their aunts were diagnosed with breast cancer. The decision to be tested and what to do with the information is a personal choice, but they all felt this knowledge empowered them.
In the '90s, Schondorf's maternal aunt was diagnosed with an aggressive breast cancer at age 47 and passed away a couple years later. A doctor told the family about a new genetic test that could identify if other family members had a mutation that increased their risk of getting cancer.
"My mom was my role model for this whole process," said Schondorf, now 38, who discovered she has the mutation. "We were given the gift of knowledge, and then you have to make the decision that's right for you. My mom did what she could to reduce her risk." Schondorf also chose to have risk-reducing surgery about a decade ago and has another planned for later this year.
She wants to emphasize, though, that just because someone has a BRCA mutation doesn't mean they will get cancer; likewise, if they don't have a mutation, it doesn't mean they won't get cancer. But genetic testing is a tool that can provide information to help people make healthcare decisions.
When Bass was 17, both her mom and aunt received cancer diagnoses. When genetic testing and knowledge of the BRCA mutation became available to Bass, now 60, there was concern about the impact the results would have on one's ability to get health insurance. "Fear of losing insurance was a barrier at that time," she said. "My mom paid for the test in cash, but I chose to continue with my self-examinations, which I've always done and strongly encourage others to do."
As a result, Bass discovered her own cancer years ago. "It didn't even show up on a mammogram," she said.
Her diagnosis led her to genetic testing, where she learned she had a BRCA mutation. Bass feels that having the test, plus the support of a genetic counselor, helped guide her decision-making for treating her cancer. "Do I get a lumpectomy, do I do more?" she asked herself.
Genetic counselors are trained to break down the scientific side of genetics to help people understand and process the results of their tests, recommend additional testing, create a genetic family tree, and more.
"It's really valuable for this information to be available for future generations, too, because it's a family affair with genetics," said Melissa Ramos, genetic counselor at the Sarnoff Center. Ramos wants to offer a word of caution about direct-to-consumer (DTC) genetic test kits, like 23AndMe: "This may be a more accessible option for some consumers, but receiving important health information without someone to help you fully understand it can create anxiety."
Both Bass and Harris worked with a genetic counselor to create a genetics family tree; Bass discovered that the BRCA mutation came from her mother's side of the family, while Harris from her father's side. Not only can men pass along this gene, but sons, as well as daughters, are at a higher cancer risk if they inherit this gene.
Harris encourages anyone with questions about resources to contact the Sarnoff Center. "Having those resources available were so helpful, so I didn't have to start doing all that research myself," she said.
There are certain factors that would indicate one may want to be tested for a BRCA mutation. But even then, testing may not be the right decision for everyone.
Rothstein said he hopes that community members will be generous with their time and offer their experiences and insights once the survey is disseminated. "We hear a lot anecdotally about how cancer-related services might benefit individuals and families in our community," Rothstein emphasized. "But as we plan those services, we need more and better data to help us focus our efforts where they will do the most good."
To learn more about the Sarnoff Center, visit jewishgenetics.org. Polly Levinson is a freelance writer living the northern suburbs of Chicago.