“I can tell my children that they don’t need to fear they will lose me to breast cancer,” said actress Angelina Jolie last May when she announced that she underwent a preventive double mastectomy . Describing her pervasive family history of breast and ovarian cancer in a New York Times op-ed , Jolie said that she had inherited a faulty BRCA1 gene, which significantly increased her cancer risk.
A month later, the U.S. Supreme Court ruled against gene patenting, effectively breaking the monopoly one laboratory, Myriad Genetics, held on testing for genetic mutations in two genes, BRCA1 and BRCA2. These events have had far-reaching and troubling implications, say experts in the field. While the interest level in learning about hereditary cancer has increased, there is still a lot of ignorance and confusion about risk factors, which could potentially lead women to undergo unnecessary surgery.
Angelina Jolie’s op-ed and the Supreme Court decision have led more people to seek information about their genetic risk factors. At the New Jersey-based organization Sharsheret, which provides support to Jewish women contending with breast cancer, the call volume has doubled in the past year, observed executive director Rochelle Shoretz. “There’s lots of discussion about BRCA,” said Shoretz, who was, however, quick to caution that the op-ed and the Myriad decision were “wonderful starting points” at best. She added that there is much work yet to be done in the Jewish community to raise awareness for the increased risk of gene mutation among Ashkenazi Jews, and to encourage families to confront and discuss the issue.
“For Angelina to say, I was tested, I’ve had mastectomies, I’ve had reconstruction — she softened those words and took some of the stigma away. That was huge,” said Sue Friedman, executive director of the national advocacy group Facing Our Risk of Cancer Empowered.
Rachel Secemski is the type of person to whom Sharsheret regularly directs its efforts. A young mother of two and physical therapist living in New Jersey, Secemski’s father was diagnosed three years ago with breast cancer at age 52. He tested positive for a mutation in the BARD1 gene, which researchers know very little about and are investigating for its role in increasing breast cancer risk.
“He had a mastectomy, chemotherapy and radiation and is thank God in remission,” said Secemski, an Orthodox Ashkenazi Jew whose father’s three older brothers, as well as her grandfather, had prostate cancer. Recently, Secemski’s first cousin on her father’s side was diagnosed with breast cancer at age 41. That overwhelming history of familial disease led Secemski to visit Sharsheret for support services and to seek genetic counseling. Secemski hasn’t yet received genetic testing as she is awaiting the results of other family members. If they test positive for the mutation, her health insurance will cover the cost for her to be tested.
“I certainly want to be proactive because I have children. If something is going to happen I want to catch it early,” said Secemski, who, while impressed by Jolie’s admissions about her surgery, noted that it didn’t help her assess her own situation. “Ultimately, I have to be the one to ask myself, do I need to do this?”
Despite an increased interest level in genetic information, two studies suggest that ignorance and confusion about BRCA prevail. When it entered the market for BRCA testing last October, Quest Diagnostics commissioned a Harris Interactive survey, which found that about 72% of about 1,500 women polled had never heard of BRCA testing, despite all the coverage in the news featuring Jolie and Myriad.
“To us, the survey signifies an alarming gap in public awareness at a time when genetic tests — for BRCA and other mutations that promote cancer — are showing great potential to empower patients and their doctors to make decisions about their health,” said Dr. Jon R. Cohen, chief medical officer at Quest.
This lack of awareness was also spotted in a survey conducted only three weeks after Jolie’s announcement. Dina Borzekowski, a professor at the University of Maryland School of Public Health and colleagues polled more than 2,500 adults nationally, finding that among respondents who were aware of Jolie’s story, nearly half could recall Jolie’s estimated risk of breast cancer before the surgery, but fewer than 10% of those had the necessary information to interpret the risk of an average women without a BRCA gene mutation relative to Jolie’s risk. “Even those who have a personal or family member risk with cancer were somewhat ignorant,” said Borzekowski, lead author of the study, published in Genetics in Medicine. She noted that even those with a history of disease were less likely to rate their cancer risk higher than average.
A lack of knowledge about cancer risk and genetic counseling seems to be connected to unnecessary radical surgery. A study published in JAMA Surgery this May (but completed before Jolie’s comments and the Myriad patent case) found that about 70% of women who have both breasts removed following a breast cancer diagnosis do so despite a very low risk of facing cancer in the healthy breast. Clinicians traditionally advise patients with a family history of breast or ovarian cancer or with a positive test for mutations in the BRCA1 or BRCA2 genes to have the procedure. Most who had the surgery in the study lacked those factors and, rather, were candidates for a breast-conserving lumpectomy. The study also revealed that only 54% of the women who received the double mastectomy had received genetic counseling to discuss their options. Patient advocates cite counseling as critical to decision-making, and that patients be counseled before and after testing for a mutation.
Sarah T. Hawley, the lead author of the study, suggested that worry about recurrence, however unlikely, was a driving factor. Another, Hawley said, could be the desire for breast symmetry. Judy Garber, director of the Center for Cancer Genetics and Prevention at the Dana-Farber Cancer Institute, is deeply troubled by the uptick in double mastectomy surgeries in women who do not carry a genetic mutation. “The risks are low but it doesn’t feel low,” she said.
As to why so many patients aren’t connecting with genetic counselors, Ellen Matloff, the founder of Yale Cancer Genetic Counseling program, said Myriad is to blame because it markets testing directly to doctors, effectively cutting out the critical step of having people meet with counselors. “Myriad is telling doctors, not only do they not need genetic counselors but we have a kit that can help any Tom, Dick or Harry order the test themselves,” Matloff said.
Myriad indeed has a dedicated section on its website for physicians who wish to forgo a counselor and handle the process themselves. “To guide patients at risk for hereditary cancer through the information-gathering and testing process: Have them complete the quick and easy Hereditary Cancer Quiz or you may opt to use other tools designed to help you identify patients in your office,” says one tip. “Use the quiz results or other tool to aid in your evaluation of the patient,” says another.
“Myriad lowered the bar on genetic expertise when they began marketing their test to non-experts, basically saying, you’re qualified enough,” Friedman of FORCE said. “I don’t think a lab should dictate who is qualified or not.”
While she believes Jolie’s admission made it easier for her organization to explain what BRCA is to patients and families, Friedman explained: “It doesn’t necessarily help us in explaining the criteria for genetic testing, the need for genetic counseling. All of those things are where they were on the landscape before.”
Karen Iris Tucker is a freelance writer who writes about health, entertainment and cultural politics. Contact her at email@example.com.