As physician-scientists in the University of Minnesota’s Department of Obstetrics, Gynecology, and Women’s Health continue to search for better ways to treat ovarian cancer, they’re simultaneously working to capitalize on what’s already known about the disease to head it off.
And they have a message for physicians and patients alike: Where ovarian cancer is concerned, knowing one’s family history can mean the difference between life and death.
Inherited gene mutations are thought to account for about 10 percent of ovarian cancer cases, though some gene mutations may be yet undiscovered. “I think we don’t do enough with family history,” says Amy Jonson, M.D., a gynecologic oncologist and assistant professor in the department.
Because of its vague symptoms and a lack of reliable screening tests, ovarian cancer is usually diagnosed at advanced stages, often making effective treatment difficult. But if a healthy patient is known to be at high risk, a range of options exists for substantially decreasing that risk.
“Once we identify the potential of a gene mutation, then we can do something about it,” Jonson says.
Preventive action varies from taking a birth-control pill—which has been shown to cut the risk of ovarian cancer, even in women with inherited gene mutations, by up to 50 percent—to preventive removal of the ovaries and fallopian tubes—which, if done at an early enough age, can significantly reduce a woman’s risk.
A lesser-known connection
While the connection between the BRCA genes and breast cancer is increasingly widely known, fewer people are aware that BRCA1 and BRCA2 also have been linked to ovarian cancer.
Geller and psychologist Sue Petzel, Ph.D., along with three colleagues, recently studied genetic counseling referral patterns for women with epithelial ovarian cancer. An estimated 11 to 15 percent of epithelial ovarian cancers are believed to be caused by BRCA1 or BRCA2 gene mutations. Another 2 percent are likely linked to hereditary nonpolyposis colorectal cancer.
In their study, presented to the Society of Gynecologic Oncologists earlier this year, only 46 of 257 women with epithelial ovarian cancer were referred for genetic counseling. Of those, only 22 women went on to receive counseling and testing. “The population at increased hereditary risk is not adequately being documented, identified, or referred for genetic services,” the study concludes.
The results point to referral barriers that need addressing, Geller says.
The value of genetic counseling
Petzel considers herself a strong advocate of genetic counseling. “It’s not always clear whether patients have enough information” to decide whether to proceed with genetic testing, she says. ” There’s a big information lapse. It’s complex.”
Typically, a genetic counselor begins by helping the woman take a comprehensive family history to quantify her risk of being a gene mutation carrier. The counselor then helps her explore the pros and cons of genetic testing.
For many women, it’s not an easy decision.
“Some people just don’t want to know,” Jonson says. “They’re afraid, or they don’t want their daughter to worry. And it’s cost-prohibitive if you have to pay out of pocket.”
Initial genetic testing can cost up to $4,000, but if a gene mutation has already been documented in a woman’s family or if the woman herself already has been diagnosed with breast or ovarian cancer, most insurance companies will pay for it, Jonson says.
“There’s a misperception that there might be punitive repercussions” from insurers, Geller adds. But in Minnesota, at least, the law protects patients from negative consequences of testing.
After testing, a patient can make a more informed decision about how to proceed. If she’s currently healthy but found to be a gene mutation carrier, she might opt for a preventive measure—or not.
Occasionally, Jonson says, a patient who’s found not to have a gene mutation but has “a really striking family history” will still choose preventive surgery. “We can’t possibly be positive we have all the gene mutations figured out,” Jonson says.
Tracking hereditary cancers
University of Minnesota health professionals are launching a first-of-its-kind effort to help monitor familial cancers—including breast, ovarian, colorectal, and prostate cancers—at the population level: the William C. Bernstein Hereditary Cancer Registry, run by colon and rectal surgeon Robert Madoff, M.D., and Timothy Church, Ph.D., a professor in the University’s School of Public Health.
The registry aims to identify people who may be at greater risk for hereditary cancers—following, educating, and studying these families to learn more about the intricacies of genetic connections and improve outcomes for patients who are dealing with these cancers and their families.
Dealing with these cancers and their families. “We thought it would be important for our patients to be involved in a familial cancer registry,” Geller says. “It’s really exciting for our department.” Eventually, health professionals in the department hope the registry may even help reveal other gene mutations that are factors in ovarian and breast cancers.
“Even one person alerted earlier who can make a decision that changes her health direction—that’s huge,” Petzel says.