When Marcia Watson-Levy was diagnosed with breast cancer in 1997 at age 58, she suspected that heredity played a role: Her sister Rhoda had died of breast cancer 12 years before, at 52.
Yet Watson-Levy, who then lived in San Francisco, said that none of her physicians — her primary doctor, her surgeon or her oncologist — suggested during the years of her treatment that she be tested for a mutation in the BRCA1 gene, which carries a 50 to 70% lifetime risk of developing the disease, or a BRCA2 mutation, linked to a 40 to 60% risk.
Watson-Levy knew about the screening test for the BRCA mutations, then a couple of years old, but she didn’t push for it. “I assumed that I was probably positive and I didn’t see the need to initiate it myself,” she said. Adding to the likelihood that she carried a mutation was Watson-Levy’s heritage. One in 40 Ashkenazi Jews (about 2.5%) carries a BRCA mutation, compared to 1 in 300 to 500 in the general population (less than 1%).
Placing faith in her doctors that genetic testing was not important in her case, Watson-Levy underwent a mastectomy, received chemotherapy for 3 1/2 years, and then went on with her life. A devotee of silent movies, she and her now-late husband Walter jetted around the country to far-flung film festivals. They frequently sailed the California coast.
More than a decade later, however, Watson-Levy was alarmed to read in an article that carrying a BRCA mutation dramatically increased the risk of a second primary breast cancer (one unrelated to the first) as well as gynecologic cancer.
The failure to get tested became a pivotal issue in Watson-Levy’s life. It is a problem that continues today for many patients, and is one that Angelina Jolie sought to address when she announced in May that she carried the BRCA1 mutation and had taken the preventive measure of a double mastectomy.
According to a study by researchers at the University of Pennsylvania, released in April, only 53% of newly diagnosed breast cancer patients who were at high risk of carrying a BRCA1 or BRCA2 mutation, based on age, diagnosis and family history of breast or ovarian cancer, reported that their doctors urged them to be tested for the defective genes. The study findings were drawn from surveys completed by 2,258 women between the ages of 18 and 64 diagnosed with breast cancer in Pennsylvania in 2007.
Jewish women, the study found, were more likely than non-Jewish women to be referred for testing and to actually take the test.
“That could be due to greater awareness of the importance of genetic testing in the Ashkenazi community,” said lead researcher Anne Marie McCarthy. Forty-six percent of Jewish women in the study said they got tested, compared to 25% of their non-Jewish study counterparts.
Another study, published in 2010 in the Journal of Cancer Education, found that newly trained doctors had “significant deficits” in their knowledge of cancer risks and inheritance patterns. Ellen Matloff, director of Cancer Genetic Counseling at the Yale Cancer Center, said such findings are concerning because genetic counseling and testing are now an integral part of surgical decision-making and medical care for newly diagnosed breast cancer patients. “Unfortunately, many clinicians are still not aware of this shift in medical management,” she said.
Even when appropriately referred by clinicians, many patients have been thwarted by cost. Until the June 13 decision by the U.S. Supreme Court that invalidated Myriad Genetics’ patent on the BRCA gene, the test, if not covered by insurance, could cost individuals more than $4,000.
Matloff said that within five hours of the ruling, seven companies announced plans to offer BRCA testing. “One company slashed Myriad’s pricing by 50% and another promised BRCA testing for less than $1,000 in the next year,” she said.
McCarthy, the Penn study researcher, said that women with a household income of less than $30,000 were 50% less likely to have had BRCA testing than women with a household income of more than $70,000.
Kathleen Raker, a plaintiff in the Myriad case, experienced firsthand how cost has curtailed BRCA testing. Raker has a worrying family history of disease: Her mother died of breast cancer at 28. Her maternal grandmother succumbed to the disease at 52. Petrified for most of her life of developing cancer, Raker, in 2007 at age 39, received a Myriad BRCA test.
The results were negative, but her genetic counselor suggested that Raker follow up with a second Myriad test that can identify less common mutations not detected in the initial test. While health insurance had covered the first test, Raker would have had to pay out of pocket for the second, which cost $650.
Raker, who works part time from her home in Williamsport, Pa., and who pays for her own insurance, ultimately declined the second test.
“In balancing the cost of the test against everyday things, it did not seem reasonable for me to be indebted for that kind of money,” said Raker, 45, whose family had been struggling financially. She said she is “thrilled” about the outcome of the Myriad case. “I believe this will result in more comprehensive and affordable testing options, which I hope to access much sooner as a result of the decision.”
Some women referred for testing simply do not follow through. Fear and fatalism are sometimes why, said Sue Friedman, a 15-year survivor of hereditary breast cancer and executive director of Facing Our Risk of Cancer Empowered (FORCE). The not-for-profit advocates for those affected by hereditary breast and ovarian cancer.
“I meet a lot of women who say, ‘I don’t want to know,’” said Friedman. There may also be implications for other family members.
“One of my strongest messages is: ‘You don’t have to decide whether to test or not, but go see a genetics expert.’ It’s about giving people their options and information and then letting them make an informed decision.”
A survey by FORCE found that even with the Genetic Information Nondiscrimination Act, “some respondents indicated that they don’t trust insurance companies,” said Friedman. “Despite this fear, there have been few documented cases of insurance discrimination.”
Until now, access to counseling — potentially a long drive from a patient’s home — has been another obstacle to testing. Counseling is now, however, available on the Internet and by phone, according to Rebecca Sutphen, a molecular and clinical geneticist who is president and chief medical officer of InformedDNA, a nationwide network of genetic experts offering the service.
“So if you have Aetna, Cigna or United Healthcare, you can literally call an 800 number and get an appointment at your convenience in your home that will be covered by your insurance,” said Sutphen.
In 2007, after reading the article on BRCA risks, Watson-Levy spoke with a genetic counselor, who recommended that she be screened. She tested positive for a BRCA mutation, and then underwent what she thought would be preventive surgeries — removal of her remaining breast and her fallopian tubes and ovaries in a procedure called an oophorectomy. Precancerous cells were found in Watson-Levy’s previously unaffected breast. Worse, she had late-stage fallopian tube cancer.
“I had no symptoms. I had no pain,” she said. “I never would have known.”
Despite the many years of delay in learning of her genetic risk, and the missed opportunity to take preventive measures sooner, Watson-Levy believed that getting tested when she did ultimately bought her valuable time for what she called her “crusade” to raise awareness so that others can make potentially life-saving medical decisions.
“This topic of conversation is very strong in me,” she said in April, from her home in Hayward, Calif., where she was receiving hospice care. Her friend Marcia O’Kane recalled that a few weeks later, Watson-Levy was elated by Jolie’s revelation and the media attention it received.
Watson-Levy died on June 21 of fallopian cancer, surrounded by friends. O’Kane organized a celebration of Watson-Levy’s life on July 28, fittingly held at a silent film theater and museum where she and Walter had shared many moments of laughter.
Karen Iris Tucker is a freelance writer who writes about health, entertainment and culture. Contact her at firstname.lastname@example.org