Genetic Counseling Helps Women & Families Face
It’s difficult enough to confront a diagnosis of breast or ovarian cancer without also learning that the malignancies are triggered by your genes. But women who face this type of double jeopardy – or discover they’re at greater inherited risk, though not ill – receive more than sound medical advice at Saint Barnabas, where a dedicated genetic counselor and other staff members guide patients through a careful diagnostic process that also lays out their many options for treatment.
Emotional concerns weigh heavily on women diagnosed with BRCA1 and BRCA2 mutations – which place them at much higher risk of developing breast or ovarian cancer – as well as those with an inherited syndrome upping the odds for colon and uterine malignancies. Yet even in the midst of wading through the physical and mental ramifications, science is still uncovering who may be affected.
“It’s interesting – you’ll see patients you’re sure have the gene, because every woman in their family had breast cancer, but they come up negative,” says M. Michele Blackwood, MD, director of breast health and disease management. “But genes account for only between 5% and 10% of breast cancers we see. There’s so much more we need to learn about this – I think we’re at the tip of the iceberg with all of it.”
A simple blood test or saliva sample can discern who has an inherited gene mutation linked to higher cancer risk. But despite the greater odds – 60% of those with BRCA mutations will develop breast cancer, for example, while up to 44% will get ovarian cancer – biology doesn’t always equal destiny.
Indeed, quite a few women counseled at Saint Barnabas are BRCA-positive but have no sign of disease, Dr. Blackwood says. For them, as well as those diagnosed with cancer, their options are extensive.
But newer research indicates that removing just the ovaries – whose estrogen production can fuel some cancers – may be sufficient to help prevent breast cancer in certain women with BRCA mutations. This approach that can be combined with other preventive measures includes taking birth control pills, which cuts ovarian cancer risk, or tamoxifen, which can block estrogen.
And some measures focus on preserving fertility while aggressively stopping cancer from developing, says Thad Denehy, MD, associate director of the Division of Gynecologic Oncology & Reconstructive Pelvic Surgery.
“Some women are harvesting their eggs and freezing them,” Dr. Denehy says.“ For years, they could only freeze embryos, but now we’re seeing women with no partners who want to decrease their risk of ovarian cancer, so they bank their eggs and have their ovaries removed. It’s an option that didn’t exist a few years ago.”
While much of counseling focuses on medical aspects such as risk odds and preventive measures, a good chunk is devoted to talking about who should be told about family risks and what they really mean, Ms. Roberts says. It’s her job to discuss risk factors for cancer, the genetic testing process, and available risk-reduction options with patients who are found to test positive for a BRCA gene.
“In the genetic counseling process, there is a lot of decision-making,” she says. “I try to be non-directive – it’s the patient’s decision whether or not to proceed with genetic testing, as some patients would rather not know this information.”
Mining the Family Tree
“The good news is, BRCA-associated ovarian cancers seem to respond better to chemo and get an even better response, more than regular chemo,” he says.
Dr. Denehy advises patients to probe their family’s health history, learning as much as possible about cancers that struck prior generations. Because people in earlier eras were much less likely to talk about their maladies, they might have called ovarian cancer “stomach cancer,” for example, unintentionally misleading future family members. “Be very aware of your family tree. You have to be very attuned to your family history.”
Known Risk Factors
To learn more, please call the Cancer Genetic Counseling and Inherited Risk Evaluation Program at 973-322-2822 or the Center for Breast Health and Disease Management at 973-322-7020.
Contact: Samantha Anton