Elizabeth Katz Special to the Jewish News
Proactive genetic testing and counseling can help cut risks of breast and other cancers.
Sarah Katz was 22 when her father, Howard, was diagnosed with stage 4 pancreatic cancer. She had recently graduated from college and had plans to move out of state to explore career opportunities. She decided to stay home when she learned his type of cancer came with a 5 percent chance of survival.
“I think it’s traumatizing when you look up the statistics,” said Sarah, now 28. “It was challenging, but my dad never had an attitude that this was anything other than a blip. He was positive when he felt awful.”
Because her father wanted to be proactive for both Sarah and her younger sister, Emily, he encouraged them to get genetic testing and counseling. He tested positive for a mutation in the BRCA2 gene, which increases an individual’s likelihood of being diagnosed with a variety of cancers, including breast, ovarian, pancreatic and prostate cancers, as well as melanoma.
“My perspective on the genetic testing and counseling was do it for my kids,” Howard said. “Once that test came back positive for my gene mutation, I recommended that both Emily and Sarah get tested.”
Sarah and Emily were tested late last year at the Barbara Ann Karmanos Cancer Institute, where Howard is a patient and where he was tested and counseled.
“I went back and forth for a little while on getting tested,” Sarah said.
What gave her pause were questions like if test results are positive for a genetic mutation, would she be denied health insurance for increased screenings she might need? Would she be denied life insurance? With a potential positive result and an increase in ovarian cancer likelihood, what would it mean if she wanted to have children?
“With my dad being so connected with Karmanos, it kind of skewed my idea about being tested,” she said. “It seemed very ignorant to not be tested.”
Results came back and Sarah learned that she, too, has the BRCA2 gene mutation carried by her father, though her sister Emily came back negative.
“There was relief when my sister was tested negative,” she said. “For me, though, you go through all that you can control. There’s so much you can do as far as screening for breast cancer. I face having to have an oophorectomy by age 35 (removal of the ovaries). The idea of going into early menopause is scary.
“It’s a lot to think about but I would rather be proactive. Monitoring is my best option.”
Because her father has advanced pancreatic cancer — and her paternal grandfather had been diagnosed and survived prostate cancer — Sarah and her sister had reason enough to be genetically tested. Another factor was that her father’s side of the family is Ashkenazi Jewish. Howard Katz’s father is Lithuanian and his mother is German.
Michael Simon, M.D., MPH, medical director of the Cancer Genetic Counseling Service at Karmanos, said most Jews are able to identify as Ashkenazi or Sephardic. Sephardic Jews have ancestral lineage to Spain or the Iberian Peninsula. Ashkenazi Jews have relatives from Russia and other parts of Eastern and Central Europe.
AN INCREASED RISK
Ashkenazi Jews are more susceptible than other groups to having either a mutation in the BRCA1 or BRCA2 genes. BRCA is an acronym for BReast CAncer gene. BRCA1 and BRCA2 gene mutations are similar and are often discussed as a “package,” according to Rachel Hagen, M.S., CGC, a certified genetic counselor at Karmanos.
Having mutations in the BRCA1 or BRCA2 genes increases a woman’s likelihood of being diagnosed with breast cancer. For example, BRCA1 and BRCA2 mutations increase a woman’s lifetime risk of being diagnosed with the disease by 45-85 percent. The general population’s risk of breast cancer is around 12 percent (for those without mutations).
For a woman, it also increases her chances of developing ovarian cancer. BRCA1 gene mutation increases her lifetime risk up to 40 percent while BRCA2 gene mutation increases her lifetime risk up to 27 percent.
For a man, BRCA1 and BRCA2 mutations also increase his likelihood of being diagnosed with prostate cancer. A lifetime risk of prostate cancer for men with a BRCA1 mutation is approximately 16 percent while those with a BRCA2 mutation have an approximately 20 percent chance of being diagnosed with prostate cancer. The risk of prostate cancer is about 6 percent for those without mutations.
Both men and women with BRCA2 mutations are also more susceptible to pancreatic cancer and melanoma.
“My oncologist Philip A. Philip, M.D. Ph.D., at Karmanos was the impetus in having this testing done,” Howard said. “He was asking very early on if I was Ashkenazi Jewish. He had talked to me about this years ago. When I did the blood draw for the test, the cost of the lab testing was prohibitive.”
Genetic counselor Hagen, however, worked to identify labs that would accept Howard’s health insurance.
“Karmanos’ genetic counseling services can provide support with insurance,” she said. “We work with labs that are reputable and will work with a patient’s insurance.”
If a patient tests positive for a gene mutation, “insurance will likely cover the increased screenings, but there are deductibles and co-insurance costs,” Hagen added.
She mentions that people who would like to receive genetic testing and counseling typically pay no more than $100 for the testing. They can be referred to Karmanos by a health care provider or can self-refer.
Those who may consider being tested include those with Ashkenazi Jewish lineage; if an individual has many relatives with cancer; if the cancers are rare or if they occurred before a person turned 50.
Testing usually entails a genetic counselor gathering a client’s personal and family health history. They then take this information and create a map of relatives and note what cancers they have been diagnosed with, if any.
The actual testing requires a blood draw or a saliva sample. Hagen said that counseling occurs before and after the testing is done.
“Our goal is to help the patient understand what the testing is about and what it means for them,” she said. “We discuss specific risks of being diagnosed with certain cancers and how to manage those risks.”
She also explains what a positive test result might mean for an individual’s relatives.
“We really do encourage people to share the results with as many family members as possible,” she said. “The testing can be life-saving.”
Presently, Howard Katz is doing well. Though he does not describe himself as “cancer-free,” there is no presence of pancreatic tumors in his body and he has discontinued chemotherapy. His residual side effects include permanent neuropathy and persistent fatigue, however.
He is a strong advocate for genetic testing and counseling, no matter what the test results might be.
“That’s a heavy burden (for my daughter) to bear, knowing that she has a 40 to 60 percent higher chance of getting breast cancer and a greater chance of getting ovarian cancer,” he said. “I went through some stages of guilt, but I know it’s irrational. This is genetic.
“Knowledge gives you the opportunity to be monitored. In talking with my daughters, I told them, you’re no different the day after you got tested than you were the day before. You’re simply able to monitor your health. The key is early detection and knowledge is your greatest tool.”
For additional information, contact Karmanos at (800) 527-6266.
Elizabeth Katz is a Metro Detroit freelance writer. She has no relation to Howard, Sarah or Emily Katz.