New Jewish initiative offers free testing for BRCA gene mutation

Apr 18, 2024 | Article, Newsletter

Rick Kornfeld would like to have a word with you about cancer.

No, he does not have cancer. But he does carry a mutation of the tumor suppressor BRCA gene.

Kornfeld found out in December of 2022 when his physician and friend Dr. David Mellman recommended that Kornfeld undergo genetic testing because he is an Ashkenazi Jew with a grandmother who died of ovarian cancer.

“When Dave tells me to do something, I do it,” Kornfeld says.

When the call came, Dr. Mellman left him a voicemail, asking him to call back. Kornfeld knew immediately what that meant.

“If it were negative, he would have said, ‘Nothing to see here,’” Kornfeld says. “I knew it was positive for the BRCA mutation. My immediate thought was, ‘What does this mean for my two daughters?”

True to the investigator and advocate he is professionally, Kornfeld began a process to research the implications of his genetic results. While the BRCA gene mutation is most often associated with breast cancer, it is also among the known causes of ovarian, pancreatic, and prostate cancer. Kornfeld’s research initially took him to Sharsharet. Ultimately, he joined the steering committee of a new hereditary cancer prevention initiative called Bringing Radical Cancer Awareness to Our Jewish Community (BRCA).

BRCA focuses on educating the Jewish population about the increased risks associated with the BRCA gene mutation and providing an opportunity for all those over 25 with at least one Jewish grandparent to receive genetic testing in an effort to prevent cancer. For the first 100 participants, all out-of-pocket costs associated with the genetic testing will be reimbursed by the initiative.

Kornfeld understands that, for many, the response to genetic testing is, “I would rather not know.”

“That is a natural reaction,” he concedes. “Part of this initiative is to educate. I have learned that not all genetic testing is created equal. If there is nothing you can do about the results, then yes, knowledge creates a psychic weight you must carry. But when there is something you can do about results, knowledge is power. Both my two daughters and I have taken action based on my results.”

Why should you test?

While BRCA gene mutations are relatively rare among the general population, occurring in just 1 out of 400 people, the incidence is much higher among people of Jewish descent and rises to 1 in 40 people of Ashkenazi Jewish heritage.

A coalition of nonprofits, including JEWISHcolorado, the Staenberg-Loup Jewish Community Center, Sharsheret, the Kaballah Experience, and Colorado Ovarian Cancer Alliance, in collaboration with both the University of Colorado and Emory University and local cancer prevention groups, launched BRCA to educate the Jewish population about the increased risks associated with the BRCA gene mutation and to open doors to genetic testing.

Over the next three years, BRCA will encourage Coloradans of Jewish descent to protect themselves by learning more about their hereditary risk. Adults over the age of 25 can participate in the academic study by signing up here. Because the BRCA gene mutation can be passed on by either parent and affects all future generations, both males and females are encouraged to participate.

The process to enroll is simple and confidential. Participants complete a short, confidential, online assessment. They receive an at-home saliva collection kit that will be sent to the certified testing lab in a pre-paid mailer. They will meet with a certified genetic counselor via a telehealth appointment. Their physician will also receive a copy of the results and will be able to provide further assistance and connections to additional resources should the individual test positive for the BRCA mutation.

Knowledge is power

Long before Kornfeld tested positive for the BRCA gene mutation, his wife, Julie Malek, had tested negative. When he got his results, Kornfeld says his “high school genetics class” kicked in. He knew that both his daughters had a 50-50 chance of inheriting the gene mutation.

He also knew that testing positive for the BRCA gene mutation was not the same as testing positive for cancer. In 2017, he was diagnosed with papillary thyroid cancer. He had experienced no symptoms at the time, and the diagnosis came as a shock.

“It wasn’t a fun experience, but as a result, I knew the difference between hearing you have cancer and hearing you have a gene mutation,” he says. “The BRCA news is not a cancer diagnosis.”

After receiving the genetic testing, Kornfeld consulted with his long-time friend Leslie Sidell. She connected him to Sharsheret where he found online resources, genetic counseling, and guidance on how to handle the BRCA gene mutation information with his two adult daughters.
Sidell also asked Kornfeld if he would join the steering committee for the BRCA initiative.

“I would do anything she asked me to do,” Kornfeld says. “She is a real community leader, so if it’s important to Leslie, it’s important to me.”

With the genetic testing results, Kornfeld has implemented a number of preventive measures in his health care regimen. He does monthly breast exams. He schedules regular abdominal MRI tests to check for pancreatic cancer. Instead of waiting 10 years between colonoscopies, his doctor now schedules them every five years.

Even more important to Kornfeld, his daughters have both been tested for the BRCA gene mutation. One was negative, one was positive. The daughter who tested positive plans to take prophylactic steps to mitigate her risk of developing cancer.

“The perfect outcome of my genetic testing would have been I was negative, so both our children would be negative, but we don’t live in a perfect world,” Kornfeld says. “If 40 people get tested, and that one person finds out they carry the gene mutation, they might be able to save their own life. And they could significantly mitigate the risk to their children’s and grandchildren’s lives.”

When Kornfeld talks about BRCA he uses terms like “action plan,” and “empowering,” and “reducing risk.” He wants men to understand that the BRCA gene mutation is not just a “woman’s thing,” and it’s not just limited to breast cancer. And he is thankful that he had a physician who encouraged him to undergo genetic testing.

“Between the thyroid cancer diagnosis and this genetic testing, I think Dr. Mellman may very well have saved my life—and he may have saved my daughter’s life,” Kornfeld says. “And that is not a hyperbole.”