Genetic testing can save lives, but not for everyone
This article first appeared in the St. Louis Beacon: September 23, 2008 - Beth Hudson and Susan Bober. Bober found out she had a BRCA1 genetic mutation through testing and then informed her sister. Hudson also inherited the mutation.
"This is my sister Sue and she saved my life."
That's how Beth Hudson, a former preschool teacher, introduces her sister, Susan Bober, to acquaintances.
Bober, 56, had been diagnosed with advance-stage ovarian cancer and, because her aunt and cousin had had ovarian cancer, Bober underwent genetic testing. Inherited mutations of the BRCA1 and BRCA2 genes increases a woman's risk for both breast and ovarian cancer.
Bober learned she carried the BRCA1 gene mutation and alerted her three sisters. Of the three, only Hudson, 54, of Des Peres, had inherited the BRCA1 genetic mutation.
She wasn't surprised. Hudson had been her sister's primary caregiver during her surgery, recovery and chemotherapy. So she was more aware of ovarian cancer's signs and symptoms than the average woman. She didn't have any symptoms - or so she thought.
"I made an appointment with my OB-GYN and told her I wanted to do a prophylactic hysterectomy," Hudson recalls. She had a CA-125 blood test that registered at 7 - well below the recommended ceiling of 35. Likewise, a transvaginal ultrasound showed no cause for alarm.
When Hudson went to surgery 10 days later, her OB-GYN physician was so confident it would be a routine hysterectomy that she didn't have a gynecologic oncologist standing by - a standard procedure when cancer is suspected.
"She immediately saw the cancer," Hudson said. "I had no symptoms, no pain. It was totally a fluke." The surgeon called in a GYN oncologist to excise the cancer, which was outside the ovaries. It was staged as IIC. Hudson's CA-125 had shot up to 53.
Hudson has been cancer-free since finishing chemotherapy almost a year ago [October 2007]. In retrospect, she realizes she did have one symptom - urinary frequency. But she had blamed the problem on her habit of drinking lots of water each day.
Now Hudson and Bober sing the praises of genetic testing.
"Do it, do it, do it," Hudson says. "I can't imagine why anyone wouldn't do it."
Cost is one reason. The full course of testing can cost $3,000 or more, and it may not be covered by insurance.
A second reason is that only five to 10 percent of women diagnosed with ovarian cancer carry the gene mutation.
To Test or Not to Test?
Dr. Kevin Easley, a gynecologic oncologist at The Center for Cancer Care & Research in Chesterfield, advises women to see a genetics counselor at one of the major medical centers.
"If you're diagnosed with ovarian cancer at a younger age, or if there are multiple family members, I recommend you think about getting genetic testing," he said.
A genetics counselor will take an extensive family history of a patient with cancer and assess whether that patient is at high risk for other cancers. BRCA1 and BRCA2 mutations can be passed by male or female relatives, he noted.
The counselor also can advise whether insurance is likely to cover the cost of testing. That often depends on a patient's family or personal history, Easley said.
In the case of Bober and Hudson, insurance paid for the testing.
Easley has these recommendations for a woman who learns that she carries one of the two gene mutations:
- Share the information with siblings and children.
- Consider a prophylactic mastectomy.
What about the adult daughter of a woman with ovarian cancer?
"I wouldn't do anything until she is finished with child-bearing," he said. "Oral contraceptives provide some protection. When she's done with child bearing, do genetic screening." Later, as the daughter nears the age of her mother's cancer diagnosis, he would suggest rigorous testing on a semi-annual basis: CA-125 tests, transvaginal ultrasounds and pelvic exams.
Dr. Nick Chobanian, director of the gynecologic oncology division at St. John's Mercy Medical Center, urges any woman who carries the gene mutation to have her ovaries removed after she passes child-bearing age.
"That reduces the risk of ovarian cancer by 96 percent," he said. "That's huge." In one week last month [August], he performed two prophylactic oophorectomies (surgery to remove ovaries) on women carrying one of the BRCA gene mutations.
One in 500 people carry the BRAC1 and BRAC 2 mutation, Chobanian said. BRAC1 has a higher risk for ovarian cancer than BRAC2, but either carries a 50 to 60 percent risk for breast cancer.
Now that Hudson has fully recovered from her encounter with ovarian cancer, she's considering whether to have a prophylactic mastectomy.
"I was physically and emotionally in no condition to think about it till a couple of months ago," she said.
Online and Community Resources
Take a confidential assessment of your chance of developing ovarian cancer, at the Women's Cancer Network.
Learn more about genetic testing at www.myriadtests.com/
Find a gynecological oncologist in your area. Go to www.wcn.org, click on Find A Doctor and enter your ZIP code.
St. Louis Ovarian Cancer Awareness offers information, support and fellowship. Go to www.sloca.org.
Join the Gynecological Cancer Networking Group, a monthly support group at the Wellness Community of St. Louis: www.wellnesscommunitystl.org/
Find information about clinical trials, research funding, education and advocacy efforts on a national level at the Ovarian Cancer National Alliance web site, www.ovariancancer.org/.
Jan Paul, a former reporter and editor for the St. Louis Post-Dispatch, is a two-year survivor of ovarian cancer. Her cancer was diagnosed at Stage IIIB.