"...I am 100 percent confident that I would not even be here today, or in as good health as I am, had it not been for the information that I got from genetic counseling."
In November 2021, as Nancie Petrucelli reviewed her upcoming patient schedule, she recognized an all too familiar last name.
“I thought, could it be?”
Petrucelli, the director and senior genetic counselor with Karmanos Cancer Institute’s Cancer Genetic Counseling Service, checked the new patient’s chart. She found that the patient’s mother was also her former patient more than two decades ago.
“There was even a letter in the chart that I’d written to the mother back in 1998,” Petrucelli said.
That letter was to Jennifer Traub, who sought Petrucelli to provide genetic counseling to her now-adult daughter.
Petrucelli met Traub when she was starting her career as a genetic counselor. Traub was a young wife and mom of two. Due to Traub’s significant family history of breast and ovarian cancer, going back to her great-grandmother, her physician referred her for genetic counseling.
“My mom, her two sisters, my maternal grandmother, maternal great-grandmother, and one of my sisters all have had breast or ovarian cancer,” Traub explained. “With the exception of my sister and one of my aunts, they all lost their lives to breast or ovarian cancer.”
Nancie Petrucelli, MS, CGC
Traub’s genetic testing revealed that she is positive for the BRCA1 gene mutation, which increases her risk of developing cancer. BRCA1 stands for breast cancer gene 1, which everyone has two copies of, just like the BRCA2 gene. When a person tests positive for a gene mutation in one of the BRCA genes, they tend to have a much higher risk of developing breast and ovarian cancer than people who do not have the gene mutation. Other cancers associated with the BRCA genes include male breast cancer, prostate cancer, pancreatic cancer and melanoma.
“In 1998, I was in my mid-to late-20s. I had just given birth to my daughter. It was devastating to learn I was positive. Today, this news is no longer a death sentence, but nobody really knew what to do with it back then. Cancer genetic testing was so new,” Traub expressed.
Petrucelli explained that cancer genetic testing for the BRCA genes started around the mid-1990s, just a few short years before Traub became her patient. Traub credits the guidance, information and resources Petrucelli provided with helping her make the tough decision to undergo a complete hysterectomy (removal of the uterus) and oophorectomy (removal of the ovaries) in 1999. In 2000, Traub had a prophylactic bilateral mastectomy. A prophylactic bilateral mastectomy can be a total mastectomy, where both breasts are removed, including the nipples, or a nipple-sparing mastectomy, where surgeons remove as much breast tissue as possible, leaving the nipples.
What is genetic counseling and testing?
Doctors refer patients for genetic counseling because of a personal or family history of cancer or both. Petrucelli said that cancer development is connected to genes about 10 percent of the time. That means the cancer development is not sporadic but due to a genetic mutation running in the family.
“People who have hereditary cancer, as we refer to it, are at significantly higher risk to develop certain types of cancer in their lifetime because of the genetic mutation that they have inherited,” Petrucelli said. “Patients are referred to a genetic counselor who evaluates the family history and determines if the cancer in the family could be genetic. We refer to that process as risk assessment. We are looking for certain clues or red flags of hereditary cancer.”
Petrucelli said the genetic counselor then discusses the family history with the patient and determines if testing is appropriate. If testing is indicated, the genetic counselor helps facilitate sample collection, which can be either blood or saliva, and sends the sample to a laboratory for genetic analysis.
“Cancer genes play a very important function in our bodies when they are working properly, to protect us from developing certain cancers,” she concluded. “The testing is to ensure there is no mutation within the gene that would cause the gene not to work.”
A profound experience comes full circle
“Given my risk of developing breast and ovarian cancer, and the prevalence of both cancers in my family, I am 100 percent confident that I would not even be here today, or in as good health as I am, had it not been for the information that I got from genetic counseling. I feel it was really that profound of an effect,” Traub expressed.
The effect was profound indeed. After recovering from her surgeries, Traub returned to college, and in 2006 she earned her Bachelor of Science degree in Dietetics. She began a career as a registered dietician nutritionist (RDN), specializing in nutrition support for cancer prevention and reducing the risk of developing cancer through nutrition.
“I wanted to help others understand the role and importance of nutrition in helping reduce their risk of developing cancer,” she said.
Even though they lost touch after Traub’s testing and surgeries were completed, she and Petrucelli never forgot each other.
“I remembered her because when I had to tell her she was positive for the BRCA1 gene mutation, it was just very emotional. We were about the same age, and we connected, and that session just stuck with me. She made quite an impact on me,” recalled Petrucelli.
Traub remembers Petrucelli “going above and beyond” in helping and supporting her as she decided to have her surgeries, one of the most challenging decisions of her life. When Traub’s adult children needed genetic counseling, she knew she wanted Petrucelli to handle their case. Petrucelli counseled and facilitated testing for Traub’s daughter in November 2021 and her son in January 2022.
“I’m just grateful that I had the experience of getting tested and being able to do something about it. I’m grateful that I could use my experience in a career that helps others and even guide my daughter (who is also positive for BRCA1) through her research and making her decision,” Traub said.
She is also grateful to have reconnected with Petrucelli. In fact, Traub nominated Petrucelli for the Heart of Genetic Counseling Award, which the National Society of Genetic Counselors sponsors. The award is presented to distinguished genetic counselors who provide exceptional and irreplaceable care to families dealing with significant health challenges.
“For Jennifer to honor me this way as a professional is just really special,” Petrucelli said. “It gives purpose to what I do every day. It’s very gratifying and is validating.”
Consider genetic counseling if you have:
- Several relatives with the same or related cancers (i.e., multiple relatives with breast cancer or colon and uterine cancers on the same side of the family)
- A personal or family history of a rare or unusual cancer, such as male breast cancer, ovarian cancer or pancreatic cancer
- A relative with more than one type of cancer
- A personal or family history of cancer, or both, under the age of 50
Though genetic testing does not require a physician referral, some insurance companies may require that a provider refers you. Most insurance companies cover genetic testing. Should you opt to proceed with a genetic test, the outside testing laboratory will investigate your insurance coverage and notify you of any out-of-pocket expenses.
Karmanos offers genetic counseling and testing throughout the Karmanos Cancer Network within McLaren Health Care. To learn more about genetic counseling and testing, visit karmanos.org/genetics.
The Genetic Information Nondiscrimination Act of 2008 is a federal law that protects people from discrimination based on genetic information when it comes to health insurance and employment. There are also state laws that do the same. A genetic counselor can address any concerns regarding genetic discrimination during a genetic counseling appointment.